Christine Klein, MD
Head of Institute
Name: Christine Klein, nee Winter
Position/Title: Director of the Institute of Neurogenetics and of the Section of Clinical and Molecular Neurogenetics at the Department of Neurology,
Schilling Professor of Neurology
Address: Institute of Neurogenetics and Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck
Ratzeburger Allee 160, 23538 Lübeck, Germany
Phone: +49-451-2903351; Fax: +49-451-2903353
Email: christine.klein@neuro.uni-luebeck.de
1988-1994: Medical School (Hamburg, Heidelberg, Lübeck) including elective periods abroad:
- University of Vitebsk, Belarus (Neurology, 1991)
- Karolinska Hospital, Stockholm, Sweden (Pediatrics, 1992)
- University of Rennes, France (Neurology, 1993)
- Wollongong District Hospital, Wollongong, Australia (Accident & Emergency, 1993)
1991-1992: Medical Thesis (Laboratory of Craig Garner, PhD, Center of Molecular Neurobiology, Hamburg; “Characterization of synaptic proteins of the rat brain”)
1994-1995: Final year studies (Neurology, Queen Square, London, UK; Internal Medicine, University of Oxford, Oxford, UK)
1995-1997: Medical residency at the Dept. of Neurology, Medical University of Lübeck, Germany
1997-1999: Neurogenetics Research Fellow (Laboratory of Xandra O. Breakefield, PhD), Molecular Neurogenetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, USA
1999-2001: Resident, Dept. of Neurology, Medical University of Lübeck, Germany
2001: Habilitation (Neurogenetics; “Molecular genetics of dystonia”
2001-2005: Assistant Professor in Neurogenetics
2004–2015: Research Fellow/Clinical Fellow/Visiting Professor (1 – 4 months each) with Anthony E. Lang, MD at the Movement Disorders Unit of the Toronto Western Hospital, Toronto, Canada
2005–2009: Lichtenberg Professor of Clinical and Molecular Neurogenetics (Associate Professor)
2009–present: Schilling Professor of Clinical and Molecular Neurogenetics and Section Head (Full Professor)
2012: Offer; position of head of Department of Neurology, Ottawa, Canada; declined
2013-present: Head of the Institute of Neurogenetics (University of Lübeck)
2019-2020: President of the German Neurological Society
2021-present: Past-President of the German Neurological Society
2022-present: Chair-elect of the European Section of the Movement Disorder Society
August 2023: Offer; Full Professor (W3), Focus Neurodegeneration, at the Department of Neurology of the Medical Faculty of Ulm University
1995: National Board of Medical Examiners Licensing Examination
1996: Schleswig-Holstein (S-H) College of Physicians General License
2004: Neurology (S-H College of Physicians)
2005: College of Physicians and Surgeons of Ontario (Clinical Fellow)
1997-1999: International Research Fellowship awarded by the German Research Foundation (DFG); Harvard Medical School, Boston, USA
2000: Hilde Ulrich's Foundation for Research in Parkinson's Disease Award 2000
2000: Oppenheim Award of the German Dystonia Foundation
2001: Parkinson Award of the German Neurological Society
2003: Heisenberg Fellowship of the German Research Foundation (DFG)
2005: Lichtenberg Career Development Award of the Volkswagen Foundation
2007: Heinrich Pette Award of the German Neurological Society
2008: Honorary member of the Belgian Neurological Society
2008: Derek-Denny Brown Award of the American Neurological Association
2009: Schilling Career Development Award of the Hermann and Lilly Schilling Foundation
2011: Julius Brendel Visitiing Professor at the University of Auckland, New Zealand
2012: Mount Sinai Medical School of Medicine Grand Rounds Dedicated to Melvin Yahr, New York, USA
2014: BioMedTec Award
2015: The 19th John and Rose Druker Memorial Lecture, Longwood Grand Rounds, Boston, USA
2017 and 2018: Invited by the Nobel Committee to nominate candidates for the Nobel Prize in Physiology or Medince 2018 and 2019.
2019: Honorary member of the Austrian Parkinson’s Disease Society
2019: Cotzias Award of the Spanish Society of Neurology
2019: C. David Marsden Presidential Lecture at the International Congress of Parkinson’s Disease and Movement Disorders
2021: Johns Hopkins Grand Rounds
2021: Member of the National Academy of Sciences (Leopoldina)
Current Grants
“Identification of new genetic causes of dystonia by high-throughput sequencing”; KL 1134/18-1
Principal Investigator: Christine Klein
Funding agency: German Research Foundation (DFG)
Funding period: 2020-2023
Amount: € 24,200
“Enrollment of subjects into the Dystonia Coalition Projects”
Principal Investigator: Christine Klein
Funding agency: Dystonia Coalition
Funding period: 2011–2023
Amount: € 100,000
“The Parkinson´s Progression Markers Initiative (PPMI)”
Principal Investigators: Christine Klein and Norbert Brüggemann
Funding agency: The Michael J. Fox Foundation
Funding period: 2020-2024
Amount: US$ 1,000,000
“Global Parkinson´s Genetic Program (GP2) Working Groups: Monogenic PD Hub, Monogenic Portal Development, Monogenic Sample Prioritization & Monogenic Data Analysis”
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2020-2023
Amount: US$ 3,804,134
“Master Services Agreement: Biomaterials and clinical data of Parkinson disease (PD) patients with mutations in Parkin, PINK1, and GBA, matched, mutation negative PD patients, and unaffected controls”
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2020-2023
Amount: US$ 298,434
”Research Unit FOR2488, P2: Reduced Penetrance in Parkin and PINK1 Deficiency: Inflammation as a Factor Influencing Penetrance in Parkinson's Disease”; KL1134/16-2
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2020-2024
Amount: € 79,125
“Research Unit FOR2488, P10: Investigation of modifying factors of Parkinson's disease in the population-based Cooperative Health Research in South Tyrol (CHRIS) cohort”; KL1134/19-1
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2020-2024
Amount: € 268,310
“Research Unit FOR2488, Z1: Coordination Fund”; KL1134/17-2
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2020-2024
Amount: € 542,800
“The Bachmann-Strauss Fellowship in Dystonia Research – Klein Lab”; MJFF-021099
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2021-2024
Amount: US$ 150,000
“Global Parkinson´s Genetics Program (GP2) – 2023 Working Group Lead”; MJFF-023315
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2023
Amount: US$ 50,000
“What influence does COVID-19 have on the development of Parkinson's disease?”; KL 1134/21-1
Principal Investigator: Christine Klein
Funding agency: German Research Foundation (DFG)
Funding period: 2022-2025
Amount: € 47,000
“Discovery of novel causes and modifiers of amyotrophic lateral sclerosis by nuclear and mitochondrial whole genome sequencing.”; KL 1134/23-1
Principal Investigator: Christine Klein
Funding agency: German Research Foundation (DFG)
Funding period: 2022-2024
Amount: € 24,200
“MJFF Consortium on PRKN and PINK1″; MJFF-023275
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2023-2025
Amount: US$ 51,750
Grants completed within the past 5 years
“Schilling Department of Clinical and Molecular Neurogenetics”
Principal Investigator: Christine Klein
Funding agency: Hermann and Lilly Schilling Foundation and Stifterverband für die Deutsche Wissenschaft
Funding period: 2009‐2019
Amount: € 4,450,000
“MitoPD Mitochondrial endophenotypes of PD” 031A430B
Principal Investigator: Christine Klein
Funding agency: Federal Ministry of Research and Education (BMBF)
Funding period: 2015–2018
Amount: € 1,099,269
„Molecular characterization of TUBB4 mutations”; KL1134/13-1
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2014–2018
Amount: € 103,800
“Building up a collaborative resource of biomaterials to unravel the genetic cause and molecular pathways of XDP and to enable comprehensive – omics approaches and drug screening”
Principal Investigator: Dr. Christine Klein
Funding agency: Massachusetts General Hospital (CCXDP)
Funding period: 2015–2018
Amount: € 91,340
“DYSTRACT: German Dystonia Registry”
Principal Investigator: Christine Klein
Funding agency: Federal Ministry of Research and Education (BMBF)
Funding period: 2016–2019
Amount: € 886,284
“Establishing a pipeline for individualized CIBD cellular models based on iPSCs”
Principal Investigator: Christine Klein
Funding agency: Cluster of Excellence (DFG)
Funding period: 2017–2018
Amount: € 47,500
“Research Unit FOR2488, P1: Markers and mechanisms of reduced penetrance in LRRK2 mutation carriers”; KL1134/15-1
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2016–2020
Amount: € 2,750
“Research Unit FOR2488, P2: Clarification of mechanisms of endogenous disease protection”; KL1134/16-1
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2016–2020
Amount: € 37,065
“Research Unit FOR2488, Z1: Coordination Fund”; KL1134/17-1
Principal Investigator: Christine Klein
Funding agency: German Research Society (DFG)
Funding period: 2016–2020
Amount: € 593,200
“Identifying global cohorts with monogenic Parkinson´s disease”; 15015
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2018
Amount: US$ 50,312
“SysMedPD: Systems Medicine of Mitochondrial Parkinson`s Disease”
Principal Investigator: Christine Klein
Funding agency: European Commissions (H2020)
Funding period: 2015–2020
Amount: € 672,512.50
“Characterizing global cohorts with monogenic Parkinson´s disease”; 15015.01+.02
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2018-2020
Amount: US$ 318,674.25
”The Edmond J. Safra Fellowship in Movement Disorders 2018”; 15845
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2018-2021
Amount: US$ 180,000.00
”Novel mitochondrial biomarkers in genetically stratified Parkinson´s disease patients”; 15524
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2018-2021
Amount: US$ 199,750
“The global monogenic Parkinson´s disease cohort – establishing a comprehensive research and clinical trial-ready resource”; 15015.03
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2020-2021
Amount: US$ 162,454.83
“Global Parkinson´s Genetics Program (GP2) – 2020 Working Group Lead”; 18786
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2020
Amount: US$ 25,000
“Global Parkinson´s Genetics Program (GP2) – 2021 Working Group Lead”; 020066
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2021
Amount: US$ 25,000
”Luebeck/LRRK2 International Parkinson’s Disease Study – LIPAD”
Principal Investigator: Christine Klein
Funding agency: Centogene
Funding period: 2019-2022
Amount: € 500,000
“Multi‐Site Communication in the Brain” (Collaborative Research Center 936)
Co- Principal Investigators (Subproject C5): Alexander Münchau and Christine Klein
Funding Agency: German Research Foundation (SFB)
Funding period: 2011-2023
Amount: € 1,245,800
“Online Tool for Correlations of Genotype and Phenotype”
Principal Investigator: Christine Klein
Funding agency: The International Parkinson and Movement Disorder Society
Funding period: 2014–2022
Amount: € 584,400
“B-Fast” (National Covid-19 Pandemic Network)
Principal Investigator: Christine Klein
Funding agency: DLR
Funding period: 2020-2021
Amount: € 408,079.86
“Global Parkinson´s Genetics Program (GP2) – 2022 Working Group Lead”; 021890
Principal Investigator: Christine Klein
Funding agency: The Michael J. Fox Foundation
Funding period: 2022
Amount: US$ 25,000
“NAPKONv2: IMMUNBRIDGE; ELISA-Kohorte”
Principal Investigator: Christine Klein
Funding agency: Federal Ministry of Research and Education (BMBF)
Funding period: 2022
Amount: € 120,000
Mentoring and Award Committees
- Mentor for the International Parkinson and Movement Disorder Society (MDS) LEAP Program Class of 2018 and 2022
- Appointment to the Selection Board for the “Heinz Maier Leibnitz” Prize (DFG) 2019-2021
- Board of Trustees of the Gertrud Reemtsma Foundation (International Prize for Translational Neuroscience) 2019-present
- Elected member of the Award Committee of the Paul Martini Award
Societies
- German Society of Neurology
- German Society of Neurogenetics
- German Dystonia Society
- European Academy of Neurology (Fellow)
- American Neurological Association
- American Academy of Neurology
- Movement Disorder Society
- College of Physicians and Surgeons of Ontario
- Honorary Member of the Belgian Neurological Society
Research Network
- Competence Network Parkinson’s Disease Germany
- Dystonia Study Group USA
- Parkinson Study Group USA (GenePD Study)
- Dystonia Coalition (USA)
- MJFF Global Genetic Parkinson’s Disease Study Group
- GP2 (Global Parkinson’s Genetics Program)
Boards (completed)
- Board Member “Gender Equality Issues at the University of Lübeck”
- Councilor to the Neurogenetics Section of the American Academy of Neurology and member of the Neurogenetics Topic Work Group
- Head of the Neurogenetics Working Group of the German Society of Neurology
- Adviser to the National Government (Ministry of Health) on rare diseases
- Member of the Board of the Center for Clinical Studies, University Lübeck
- Member of the working group “Human whole genome sequencing” of the Senate Commission on Genetic Research (Genetic SK) and the Senate Commission on basic issues in Clinical Research (SGKF) of the German Research Foundation (DFG)
- Member of the DFG Permanent Senate Commission on Key Questions in Clinical Research
Foundations
- Member of the Scientific Advisory Board of the Dystonia Medical Research Foundation (2006-2009)
- Member of the Scientific Advisory Board of the Bachmann-Strauss Dystonia & Parkinson Foundation (2010-2015)
- Elected member of the Neurology Study Section of the German Research Foundation (DFG), 2012-2016
- Ad-hoc member of the Lichtenberg Panel of the Volkswagen Foundation (2015 and 2019)
- Member of the Cellular and Molecular Neuroscience Expert Review Group of the Wellcome Trust (2016 – 2018)
- Member of the Science Committee of the Else Kröner Fresenius Foundation (since 2015)
- Member of the Scientific Advisory Board of the Schilling Foundation (2021-2025)
Editorial Boards
- Deputy Editor, Movement Disorders (since 2020)
- Deputy Editor, Science Advances (since 2021)
- Associate Editor, Annals of Neurology (2015-2021)
- Associate Editor, Movement Disorders (until 2019)
- Editorial Board Movement Disorders (2003-2007 and 2010-2013)
- Progress in Neurobiology (2017-2020)
- Web Site Editorial Board of the Movement Disorder Society (2008-2010)
- Parkinson’s Disease (since 2010)
- Neurology (2008-2016)
Symposia and Conferences (selected)
- Organization and Co-Chair of the international symposium “Genetics of Movement Disorders – Gateways and Perspectives”, Lübeck, 2000
- Organization and Co-Chair of the international symposium “Genetics of Movement Disorders – Gateways and Perspectives II”, Lübeck, 2005
- Member of the congress planning committee of the 5th German Parkinson’s Disease Congress, Ulm, 2007
- Member of the Congress Scientific Program Committee (CSPC) of the Movement Disorders Society for the annual meetings 2008 (Chicago), 2009 (Paris), 2010 (Buenos Aires), 2011 (Toronto), 2012 (Dublin)
- Organization and Chair of the 14th Annual Meeting of the German Society of Neurogenetics, Lübeck, 2008
- Member of the congress planning committee of the 6th German Parkinson’s Disease Congress, Marburg, 2009
- Member of the congress planning committee of the 7th German Parkinson’s Disease Congress, Kiel, 2011
- Member of the congress planning committee of the 85th Annual Meeting of the German Society of Neurology, Hamburg, 2012
- Member of the congress planning committee of the 87th Annual Meeting of the German Society of Neurology, Munich, 2014
- Chair of the Congress Scientific Program Committee (CSPC) of the International Parkinson Disease and Movement Disorder Society for the annual conferences 2016 (Berlin) and 2017 (Vancouver)
- Organization and Chair of the 1st International Conference on Reduced Penetrance in Lübeck, Germany, 2018 (endorsed and supported by the DFG and MDS)
Task Forces
- Co-Chair of the Task Force on Genetic Nomenclature in Movement Disorders of the International Parkinson and Movement Disorder Society
- Member of the MDS Task Force on Parkinson’s Disease Subtypes of the International Parkinson and Movement Disorder Society
- Co-Chair of the Task Force for Genetic Testing in Parkinson’s disease of the International Parkinson and Movement Disorder Society
Journals
- American Journal of Human Genetics
- American Journal of Medical Genetics
- Annals of Neurology
- Archives of Neurology
- BBA Molecular Cell Research
- Brain
- Cancer Research
- Clinical Genetics
- Elife
- European Journal of Human Genetics
- European Journal of Neurology
- FEBS Letters
- Human Genetics
- Human Molecular Genetics
- Human Mutation
- Journal of Clinical Investigation
- Journal of Neural Transmission
- Journal of Neurochemistry
- Journal of Neurology
- Journal of Neurology Neurosurgery and Psychiatry
- Journal of the Neurological Sciences
- Journal of Nucleic Acids
- Movement Disorders
- Nature Clinical Practice Neurology
- Nature Communications
- Nature Genetics
- Nature Medicine
- Nature Review Immunology
- Neurogenetics
- Neurology
- Neuropediatrics
- Neuroscience Letters
- New England Journal of Medicine
- PLoS Biology
- PLoS Genetics
- Progress in Neurobiology
- Science
- The Journal of Neuroscience
- The Lancet
- The Lancet Neurology
- Trends in Neurosciences
Grants
- German Research Foundation (DFG)
- Wellcome Trust (London)
- Dystonia Medical Research Foundation
- European Commission
- Medical Research Council (MRC) (UK)
- Prinses Beatrix Fonds (Niederlande)
- Intramural funding program of the University of Lübeck
- Fortüne Program of the University of Tübingen
- Intramural Research Funding of the University of Kiel
- Completed PhD theses: n=12 (7 “summa cum laude”)
- Completed MD theses: n=~50
- Completed Master and Bachelor theses: n=~40
- Faculty positions for former mentees: n=14, including 10 professorships (3 Full, 7 Associate)
Teaching
- Neurology bedside teaching
- Neurology main lecture series (selected topics)
- Case studies in movement and neurogenetic disorders
- Seminar within the Master’s Program “Molecular Life Sciences” at the Natural Sciences Section
- Neurogenetics seminar series
- Neurobiomedicine lecture series
- Weekly journal club for graduate and undergraduate students
- Lectures at international meetings and other Universities
Invited Talks
>600 invited talks (1995-2023; plenary and keynote lectures and grand rounds are highlighted with an asterisk)
Selected invited talks are listed below:
- Klein C. Genetics of the dystonias: The dopamine connection. The Mount Sinai Medical Center Lecture, Mount Sinai Medical Center, New York, USA, February 1999.
- Klein C. Clinical-genetic correlates in dystonia. Faculty of the Teaching Course “Update in dystonia” der Movement Disorder Society. VI. Annual Meeting of the Movement Disorder Society in Barcelona, Spain, June 2000.
- Klein C. Genetics of Parkinson's disease. Faculty of the teaching course: Genetics of Movement Disorders. 53rd Annual Meeting of the American Academy of Neurology, Philadelphia, USA, May 2001.
- Klein C. Molecular genetics of dystonia. Plenary Lecture at the 4th International Congress of the European Paediatric Neurology Society. Baden-Baden, Germany, September 2001.
- *Klein C. Molekulare Krankheitsmodelle/Neurogenetik: Dystonien. Plenary Lecture at the 74th Congress of the German Society of Neurology. Aachen, Germany, September 2001.
- Klein C. The dopamine connection, imprinting, and haploinsufficiency – What is yet to come in dystonia and Parkinson genetics? Invited lecture, Mayo Clinic Jacksonville, Jacksonville, Florida, USA, March 2003.
- *Klein C. Genetics of parkinsonism. Plenary lecture at the 35th Danube Symposium, Belgrade, Serbia and Montenegro, September 2003.
- Klein C. Genetics of Movement Disorders. Faculty of the teaching course Genetics in Neurology. 56th Annual Meeting of the American Academy of Neurology, San Francisco, USA, April 2004.
- *Klein C. Movement disorders: Classifications. Plenary lecture at the 41st Annual Meeting of the Society for the Study of Inborn Errors of Metabolism Amsterdam, The Netherlands, September 2004.
- *Klein C. Genetic and environmental factors in the etiology of Parkinson’s disease. Plenary lecture at the 9th International Congress of the Movement Disorder Society, New Orleans, USA, March 2005.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 57th Annual Meeting of the American Academy of Neurology, Miami, USA, April 2005.
- *Klein C. The Genetics of Parkinson’s disease. Contemporary Clinical Issues and Case Studies Plenary Session. Plenary lecture at the 57th Annual Meeting of the American Academy of Neurology, Miami, USA, April 2005.
- Klein C. Early-onset parkinsonism (Parkin, DJ-1 and PINK1). Co-director of the teaching course “Genetics of parkinsonism” at the 16th International Congress on Parkinson’s Disease and Related Disorders, Berlin, Germany, June 2005.
- Klein C. Clinical and molecular genetics of Parkinson’s disease and dystonia: The dopamine connection. Lecture within the Mind Seminar Series, MassGeneral Institute for Neurodegenerative Disease, Harvard Medical School, Boston, USA, September 2005.
- *Klein C. Advances in the genetics of movement disorders are revolutionizing diagnosis. Plenary lecture at the 130th Annual Meeting of the American Neurological Association, San Diego, USA, September 2005.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 58th Annual Meeting of the American Academy of Neurology, San Diego, USA, April 2006.
- Klein C. Etiology of Parkinson’s disease. Faculty of the teaching course “Parkinson’s and Movement Disorders Update” at the 58th Annual Meeting of the American Academy of Neurology, San Diego, USA, April 2006.
- Klein C. Clinical spectrum of PINK1 mutations and evidence for a role of heterozygous mutations in a large family. Faculty of the teaching course “Case Studies in Neurogenetics” at the 58th Annual Meeting of the American Academy of Neurology, San Diego, USA, April 2006.
- Klein C. Clinical and molecular genetics of primary dystonia and dystonia-plus syndromes. Invited talk at the 2. NINDS-DMRF Workshop on Dystonia, Bethesda, USA, June 2006.
- *Klein C. Heterozygous mutations cause autosomal recessive familial parkinsonism – YES. Plenary controversy at the 10th International Congress of the Movement Disorder Society, Kyoto, Japan, November 2006.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 59th Annual Meeting of the American Academy of Neurology, Boston, USA, April 2007.Klein C. Parkinson’s disease: Basic Science. Faculty of the teaching course “Parkinson’s and Movement Disorders Update” at the 59th Annual Meeting of the American Academy of Neurology, Boston, USA, April 2007.
- *Klein C. Genetic Parkinson’s disease: Implications for neurological care. Plenary lecture at the Movement Disorder Society of Australia 2007 Conference, Gold Coast, Australia, October 2007.
- *Klein C. Clinical and molecular genetics of dystonia and dystonia-plus syndromes. Plenary Lecture at the Movement Disorder Society of Australia 2007 Conference, Gold Coast, Australia, October 2007.
- Klein C. Clinical and molecular genetics of dystonia and dystonia-plus syndromes. Invited lecture, Basal Ganglia Club of the Institute of Neurology and Neurosurgery, Queen Square, London, England, November 2007.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 60th Annual Meeting of the American Academy of Neurology, Chicago, USA, April 2008.
- Klein C. Course director “Neurogenetics Case Presentations” at the 60th Annual Meeting of the American Academy of Neurology, Chicago, USA, April 2008.
- Klein C. Moderator of the “Highlights Session: Movement Disorders” at the 60th Annual Meeting of the American Academy of Neurology, Chicago, USA, April 2008.
- *Klein C. Contribution of genetics to the understanding of Parkinson’s disease. Plenary lecture at the 7th National Congress of Parkinson’s Disease and Movement Disorders. Bodrum, Turkey, April 2008.
- *Klein C. Deciphering the role of heterozygous mutations in recessive genes linked to parkinsonism: Common benign variants or susceptibility factor? Plenary lecture at the 133rd Annual Meeting of the American Neurological Association (Derek Denny-Brown Awardee), Salt Lake City, USA, September 2008.
- *Klein C. Genetics of dystonia. Plenary lecture at the 14th Annual Meeting of the German Society of Neurogenetics. Lübeck, Germany, September 2008.
- Klein C. Parkinson’s disease genotypes and (endo-)phenotypes. Invited lecture at the National Hospital of Neurology, Queen Square, London, England, January 2009.
- Klein C. Introduction to neurogenetics. Course director of the teaching course “Genetics in Neurology” at the 61st Annual Meeting of the American Academy of Neurology, Seattle, USA, April 2009.
- Klein C. Neurogenetics: The European perspective. Faculty of the teaching course “Advances in genetics and molecular biology in global neurology” at the 61st Annual Meeting of the American Academy of Neurology, Seattle, USA, April 2009.
- Klein C. Is genetic testing for parkinsonism useful? – A (qualified) yes. Invited talk, WFN XVIII World Congress on Parkinson’s Disease and Related Disorders, Miami, USA, 2009.
- Klein C. Highlights of recent advances in neurogenetics and their impact on clinical practice, ethics, and health policies. Focus on Parkinson´s disease, movement disorders, and motor neuron disease. Invited talk at the 62nd Annual Meeting der American Academy of Neurology, Toronto, Canada, April 2010.
- *Klein C. Genetic testing. Plenary lecture at the 2nd World Parkinson Congress, Glasgow, Great Britain, September 2010.
- Klein C. Parkinson´s disease: what genetics has taught us. Brendel Professorship at the University of Auckland, Auckland, New Zealand, February 2011.
- Klein C. Introduction and genetics of movement disorders. Course director of the teaching course “Genetics in Neurology” at the 63rd AAN Annual Meeting of the American Academy of Neurology, Honolulu, Hawaii, USA, April 2011.
- Klein C. Genetic aspects of Parkinson´s disease. Invited talk within the Integrated Neuroscience Session: Advances in the genetics of movement disorders at the 63rd AAN Annual Meeting of the American Academy of Neurology, Honolulu, Hawaii, USA, April 2011.
- Klein C. Parkinson’s disease: What genetics has taught us. Grand Rounds at the University of Calgary, Canada, June 2011.
- *Klein C. Parkinson’s disease: What genetics has taught us. Keynote Lecture at the 4th Hope Conference der Parkinson Alberta Society und Parkinson Society of Canada, Calgary, Canada, June 2011.
- *Klein C. Genes as risk factors for dystonia. Plenary lecture at the 5th International Dystonia Symposium, Barcelona, Spain, October 2011.
- Klein C. The role of causative and modifying genes in parkinsonism and dystonia. Invited speaker of the Basal Ganglia Club of the Institute of Neurology and Neurosurgery, Queen Square, London, England, December 2011.
- *Klein C. MSSM Grand Rounds Dedicated to Melvin Yahr: Translating new findings in dystonia and Parkinson disease genetics into clinical practice. Invited talk at the Mount Sinai Medical School of Medicine, New York, USA, April 2012.
- Klein C. Introduction and genetics of movement disorders. Invited talk within the course “Genetics in Neurology” at the 64th AAN Annual Meeting, New Orleans, Louisiana, USA, April 2012. *Klein C. What is more important: DYT phenotype or genotype? Invited plenary talk at the 16. International Congress of the Movement Disorder Society, Dublin, Ireland, June 2012.
- *Klein C. Basics in genetics of movement disorders. Invited plenary talk at the 1st International Congress of the Movement Disorder Society of the Philippines, Manila, Philippines, August 2012.
- *Klein C. Phenotypic presentations of genetic parkinsonism. Hot topics in movement disorders. Invited plenary talk at the 16th annual meeting of the European Federation of the Neurological Sciences (EFNS), Stockholm, Sweden, September 2012.
- *Klein C. Can new strategies cure Parkinson’s disease? Invited plenary talk within the President symposium of the 85th Congress of the German Society of Neurology. Hamburg, Germany, September 2012.
- Klein C. Modeling genetic and idiopathic Parkinson’s disease with iPS cell-derived neurons. Invited talk at the Oxford Parkinson’s Disease Centre, Oxford, March 2013.
- Klein C. Update on the genetics of dystonia. Invited talk at the 10th Turkish Parkinson Disease and Movement Disorder Congress. Antalya, Turkey, Mai 2013.
- Klein C. An update on primary dystonia. Invited talk within the 17th International Congress of Parkinson´s Disease and Movement Disorders, Sydney, Australia, June 2013.
- Klein C. iPS-cells and Parkinson-Syndromes. Invited talk and chair of the 86th annual meeting of the German Society of Neurology in Dresden, Germany, September 2013.
- Klein C. Can the interaction between genetics, environment and behavior be a key determinant of PD expression? Plenary talk at the 3rd World Parkinson Congress, Montreal, Canada, October 2013.
- *Klein C. Multimodal treatment approaches to Parkinson disease. Plenary talk at the 8th annual meeting of the GEO-PD-Consortiums, Lübeck, Germany, October 2013.
- Klein C. DPG-Symposium: News about Parkinson: Genetic. Invited talk and chair at the Neuro-Week 2014. Munich, Germany, September 2014.
- *Klein C. Translating Genetic findings into clinical practice: The Parkinson example. Invited plenary talk at the XXIInd World Congress of Psychiatric Genetics. Copenhagen, Denmark, October 2014.
- Klein C. Genetics of Movement Disorders. Invited talk at the Annual Meeting of the American Academy of Neurology, Washington, USA, April 2015.
- *Klein C. Should whole exome sequencing be part of neurological practice today? Invited Plenary Debate at the Annual Meeting of the American Academy of Neurology, Washington, USA, April 2015.
- Klein C. Genotype-phenotype correlations – Studies in monogenic PD. 10th Annual GEoPD Meeting. Tokyo, Japan, October 2015.
- Klein C. Translating neurogenetics into clinical practice. Novosibirsk Neurology Lectures. Novosibirsk, Russia, December 2015.
- Klein C. Parkinson‘s disease: From genes to cause-directed therapies? Plenary talk at the 6th International Symposium: Crossroads in Biology. Cologne, February 2016.
- *Klein C. Phenotype/Genotype in Movement Disorders: The very latest on the genetics of dystonia. Plenary talk at the 5th AOPMC. Manila, Philippines, March 2016.
- Klein C. Translational aspects of dystonia. Seoul National University Hospital Symposium. Seoul, South Korea, April 2016.
- *Klein C. Biomarkers of Parkinson‘s disease: Genetic aspects. Plenary talk at the Annual Meeting of the Korean Movement Disorder Society. Seoul, South Korea, April 2016.
- Klein C. Utility of Next Generation Sequencing Methods in Clinical Neurology. Invited talk at the MDS Argentina Symposium. Buenos Aires, October 2016.
- Klein C. Hereditary Parkinsonism. Invited talk at the MDS Argentina Symposium. Buenos Aires, October 2016.
- Klein C. Genetics E: MDS Gene. 3rd XDP Workshop. Luebeck, Germany October 2016.
- Klein C. Genetic Advances in Movement Disorders. Faculty at the Annual Meeting of the American Academy of Neurology. Boston, USA, April 2017.
- Klein C. Glucocerebrosidase gene – What can we learn for Parkinson‘s disease? Recent Advances in Rare Diseases (RARD) 2017. Moscow, Russia, May 2017.
- Klein C. Next-generation phenotyping: Catching up with genetics? Kolling Seminar Series. Sydney, Australia, October 2017.
- Klein, C. Genetic Analysis and the Clinician – using genetic analysis to guide therapy. 12th Annual Meeting of the Genetic Epidemiology of Parkinsons`s Consortium (GEoPD). Cairns, Queensland, October 2017.
- Klein C. Dinner Speech: 9.5 Questions and Theses on Rare Diseases. DASNE: German Academy of Rare Neurological Diseases. Wartburg, Germany November 2017.
- Klein C. Genetics and Neurodegenerative Diseases. Proteinopathies and Neurodegenerative Disorders (NDD) Symposium. Paris, France, December 2017.
- Klein C. Hot Topics – Monogenic Movement Disorders. Takamatsu International Symposium 2018. Tokyo, Japan, February 2018.
- *Klein C. Genetics of XDP. Invited talk at the 2nd International MDSP Congress. Manila, Philippines, March 2018.
- *Klein C. Moving forward on XDP research. Invited talk at the 2nd International MDSP Congress. Manila, Philippines, March 2018.
- *Klein C. Rare causes of common movement disorders. Plenary lecture at the 15th Annual Congress of the Austrian Society of Neurology. Linz, Austria, March 2018.
- Klein C. Dystract – a German Research Network. Dystonia Europe 25th Anniversary. Brussels, Belgium, April 2018.
- *Klein C. Update on the genetics of Parkinson’s disease: Phenotypic implications. Update on Movement Disorders. Belgrade, Serbia, May 2018.
- Klein C. Dystonia – how to recognize and treat – Level 1: Inherited familial forms of dystonia. EAN Congress Lisbon. Lisbon, Portugal, June 2018.
- *Klein C. Parkin-linked Parkinson`s disease: From clinical insights to pathogenic mechanisms and novel therapeutic approaches. The 20th Anniversary of Parkin Discovery. Kobe, Japan, July 2018.
- Klein C. Cellular models of myoclonus-dystonia. Fourth DRMF Myoclonus-Dystonia Workshop. Paris, France, September 2018.
- Klein C. Ethical issues with genetic testing in the next generation sequencing era. Invited talk at the International Congress of Parkinson`s Disease and Movement Disorders. Hongkong, China, October 2018.
- Klein C. Using genetics to guide therapy. Parkinson’s Disease Symposium. Paris, France, December 2018.
- *Klein C. Genetics of dystonia: Current state of research and clinical implications. Plenary Lecture at the German Congress for Parkinson’s Disease and Movement Disorders. Duesseldorf, Germany, March 2019.
- *Klein C. Update of the Genetics of Dystonia. Plenary Lecture at the Third International Taiwanese Congress of Neurology (3rd ITCN) and 2019 Annual Meeting of Taiwan Neurological Society (2019 AMTNS). Taipei, Taiwan, May 2019.
- *Klein C. The role of genetics in personalized medicine of Parkinson`s disease. Plenary Lecture at the Third International Taiwanese Congress of Neurology (3rd ITCN) and 2019 Annual Meeting of Taiwan Neurological Society (2019 AMTNS). Taipei, Taiwan, May 2019.
- *Klein C. Genetic classification of Dystonia. Plenary Lecture at the 4th International Congress on Treatment of Dystonia. Hannover, Germany, May 2019.
- Klein C. Role of Parkinson`s disease genes (Parkin & Pink1) in neuroinflammation. 3rd Movement Disorders Journal Conference Neuroinflammation in Parkinson’s disease and other parkinsonism. Hoboken, New Jersey, May 2019.
- *Klein C. Should we routinely genotype patients in movement disorders clinics? – Yes. XXIV World Congress of Parkinson’s Disease and Related Disorders Debate. Montreal, Canada, June 2019.
- *Klein C. Keynote: What to learn to other chronic diseases. Prodromal Parkinson’s Disease Course in Kiel. Kiel, Germany, June 2019.
- Klein C. Role of Mitochondria and Energy Metabolism in Monogenic Parkinson`s Disease. FENS Regional Meeting. Belgrade, Serbia, July 2019.
- Klein C. New Developments in Neurogenetic at the Max Planck Institute of Experimental Medicine in Göttingen. Reduced penetrance of inherited movement disorders: Elucidating mechanisms of endogenous disease protection. Göttingen, Germany, September 2019.
- *Klein C. C. David Marsden Presidential Lecture at the 2019 International Congress of Parkinson’s Disease and Movement Disorders. Reduced penetrance of inherited movement disorders: Elucidating mechanisms of endogenous disease protection Nice, France, September 2019.
- *Klein C. Symposio: Actualización en Genética de los Trastornos del Movimiento. Genetics of Parkinson`s Disease: One gene – many phenotypes/ one phenotype – many genes. Santiago de Chile, Chile, October 2019.
- Klein C. Symposio: Actualización en Genética de los Trastornos del Movimiento. Genetics of hyperkinetic movement disorders: dystonia, paroxysmal, disorders and chorea. Santiago de Chile, Chile, October 2019.
- *Klein C. Conferencia: Detectives de la information genómica. Deciphering mechanisms of endogenous disease protection. Santiago de Chile, Chile, October 2019.
- Klein C. Symposium: Genetic of Movement Disorders in sub-Saharan Africa. Importance of Genetics in Movement Disorders. Cape Town, South Africa, November 2019.
- *Klein C. Jahrestagung der Österreichischen Parkinsongesellschaft Ehrenmitgliedschaft. Herausforderung für die Praxis: Genetisch bedingte Bewegungsstörungen. Vienna, Austria, November 2019.
- Klein C. 6th Congress of the European Academy of Neurology – 1st Virtual Congress. TC10_02: Advances in Genetics. May 2020. Virtual
- Klein C. MDS Virtual Congress 2020, Skills Workshop 508. Genetic testing, Counseling and Issual Ethics. September 2020. Virtual
- *Klein C. Edinburgh Parkinsons’s Lecture 2020. Genetic factors in Parkinson’s disease: cause or modifier? October 2020. Virtual
- Klein C. GEoPD Virtual Conference 2020. MFF/GEoPD Monogenic PD Project. October 2020. Virtual
- Klein C. GEoPD Virtual Conference 2020. Clinical features of GBA-PD. October 2020. Virtual
- Klein C. GP2 Annual Conference. Current investigational trials for GBA-related therapies. November 2020. Virtual
- Klein C. GP2 Annual Conference. GBA mutations in PD: from rare to common. November 2020. Virtual
- Klein C. GP2 Annual Conference. GP2 Monogenic Hub. November 2020. Virtual
- Klein C. International Symposium on Primary Familial Brain Calcification and related Movement disorders: Primary familial brain calcifications: Insights from MDSGene and PDGF (R) B pathophysiology. November 2020. Virtual
- Klein C. Movement Disorder Society of Philippines. Update on XDP genetics. February 2021. Virtual
- Klein C. Movement Disorder Society of Philippines. The Role of Precision Medicine in Movement Disorders. February 2021. Virtual
- *Klein C. 18th Jahrestagung der Österreichischen Gesellschaft für Neurologie (ÖGN). Genetische Diagnostik Neurologischer Erkrankungen. April 2021. Virtual
- *Klein C. John Hopkins Clinical Neuroscience Grand Rounds. Parkinson`s disease genetics: Cause or risk? April 2021. Virtual
- Klein C. EAN 2021. Sex-related differences in genetic neurological disorders. June 2021. Virtual
- Klein C. (Discussant) MDS Congress 2021. Video Challenge September 2021. Virtual
- Klein C. IBRO- APCR School-Neuromics. Reduced Penetrance in Genetic Parkinson’s Disease and Related Movement Disorders. Malaysia, September 2021. Virtual
- Klein C. GEoPD Annual Meeting, Omsk, Russia. Monogenic Parkinson’s disease: Networks and Cohorts. October 2021. Virtual.
- Klein C. A Decade of Collaboration. XDP-Webinar. October 2021. Virtual
- Klein C. 8th Emirati German Congress in Medicine and Dental Medicine 2021. Reduced penetrance of hereditary movement disorders – Elucidating mechanisms of disease protection. Universitv of Sharjah, Sharjah UAE, November 2021.
- Klein C. 8th Emirati German Conqress in Medicine and Dental Medicine 2021. One-year surveillance of SARS-CoV-2 transmission of the ELISA Cohort: A model for population-based monitoring of infection risk. LübEck Longitudinal Study on Infections with SARS-COV-2. University of Sharjah, Sharjah UAE, November 2021.
- Klein C. Linzer Neurowissenschaftlicher Donnerstag 2022. Genetik bei Bewegungsstörung. Linz, February 2022. Virtual
- Klein C. Deutscher Kongress für Parkinson und Bewegungsstörungen 2022. Zwei Michael J Fox Foundation-Initiativen, ein Datenprojekt und GP2/ASAP. Hannover, March 2022. Virtual.
- Klein C. Deutscher Kongress für Parkinson und Bewegungsstörungen 2022. Ausblick der Dystonieforschung: Wo geht die Reise hin? Hannover, March 2022. Virtual.
- *Klein C. World Congress on Parkinson' Disease and Related Disorders 2022. Melvin Yahr plenary lecture. How has genetics reshaped the field of movement disorders? Prague, Czech Republic, May 2022.
- Klein C. Mosaic divergent repeat interruptions in XDP influence repeat stability and Disease onset. CCXDP Seminar. Institute of Neurogenetics, Luebeck. May 2022. Virtual.
- Klein C. Symposium in honor of Prof. Vladimir Kostic. Genetics of movement disorders. Belgrade, Serbia, May 2022.
- Klein C. Colloque de neurosciences cliniques 2022. Update on the genetics of movement disorders. Lausanne, Switzerland, June 2022.
- Klein C. Symposium of the National Academy of Sciences Leopoldina: Breakthroughs in medicine: X-linked dystonia-parkinsonism as an example of personalized medicine. Halle (Saale), Germany, July 2022.
- Klein C. HD2022: Milton Wexler Symposium: Elucidating genetic modifiers of age-related penetrance in X-linked dystonia-parkinsonism. Boston, USA, August 2022.
- Klein C. DGN, German Neurological Society. Geschlechtergerechtigkeit in der Neurologie. Berlin, Germany, November 2022.
- *Klein C. LXXVII Chilean Congress of SONEPSYN. The discovery of X-linked dystonia parkinsonism: A translational medicine tale. Pucon, Chile, November 2022.
- Klein Sociedad Chilena De Neurologia, Psiquiatria y. Neurocirugia. 2nd Symposium: Movement Disorders. The role of genetics in the differential diagnosis of dystonia. Pucon, Chile, November 2022.
- Klein CETRAM Seminar: Introduction to the Monogenic Network of GP2. Santiago, Chile, November 2022.
- *Klein C. 17th International meeting of the GEoPD consortium and open symposium. Pathogenesis of Parkinson ́s Disease. Update on Monogenic GP2 network. Karolinska Institut, Solna, Sweden, November 2022. Virtual.
- Klein The Royal Society: Endosomal network in neurodegeneration. VPS35 causal mutations in Parkinson's disease. London, England, November 2022.
- Klein C. 5th International Brainstorming Symposium: Therapeutic Strategies and Molecular Mechanisms across Repeat Expansion Diseases. Genetic Modifiers in X-linked Dystonia- Parkinsonism (XDP). Center for Neurogenetics, Gainesville, USA, January 2023.
- Klein Neuroscience Seminar Series GoPD Group (Prof. T. Outeiro). Genetic causes and modifiers of parkinsonism. Göttingen, Germany, February 2023. Virtual.
- Klein Neuroscience Seminar Koc University. Update on the genetics and modifiers of Parkinson's disease. Istanbul, Turkey, March 2023.
- *Klein C. 15th National Parkinson's Disease & Movement Disorders Congress. Genetics in Parkinson's disease. Dalaman, Turkey, March 2023.
- Klein 4th International Academic Colloquium. Discovering Causal, Risk, and Protective Factors in XDP. Manila, Rep. of the Philippines April 2023.
- *Klein C. UST-FMS Luis Guerrero Memorial Lecture. The XDP Saga Moving to Modern Day Genetics as an Exemplar. Manila, Rep. of the Philippines, April 2023.
- Klein MDS-AOS Basic Science School. Genetics of Dystonia: What's known? What's new? What's next? Manila, Rep. of the Philippines, April 2023.
- Klein MDS-AOS Basic Science School. New Insights in X-Linked Dystonia-Parkinsonism Genetics. Manila, Rep. of the Philippines, April 2023.
- Klein 21st Annual Scandinavian Meeting. How will genetics change the view on movement disorders? Stockholm, Sweden, April 2023. Virtual.
- Klein Brains on Chips: iPSCs as a model for analyzing neurodegenerative diseases. Braunschweig, Germany, May 2023.
- Klein Science Seminar Edinburgh University. Genetic causes and modifiers of parkinsonism. Edinburgh, Scotland, June 2023.
- Klein 7th KAST-Leopoldina Bilateral Symposium: Advances in Brain Research. Reduced penetrance of hereditary movement disorders: Elucidating mechanisms of endogenous disease protection. Halle (Saale), Germany, June 2023.
- Klein C. 9th EAN Congress: MDS-ES: Early/prodromal detection and risk stratification in Parkinson's disease and Dementia with Lewy bodies: Insights from Genetics. Budapest, Hungary July 2023.
- Klein C. International Congress of PD and Movement Disorders 2023. What about my kids? Genetic and epigenetic factors influencing inheritance in Parkinsons disease, and potential for modification. Copenhagen, Denmark, August 2023.
- Klein C. MDS-ES School for Young Neurologists. Genetics of Parkinson's disease. Brno, Czech Republic, September 2023.
- Klein C. Genetics of the dystonias: The dopamine connection. The Mount Sinai Medical Center Lecture, Mount Sinai Medical Center, New York, USA, February 1999.
- Klein C. Clinical-genetic correlates in dystonia. Faculty of the Teaching Course “Update in dystonia” der Movement Disorder Society. VI. Annual Meeting of the Movement Disorder Society in Barcelona, Spain, June 2000.
- Klein C. Genetics of Parkinson's disease. Faculty of the teaching course: Genetics of Movement Disorders. 53rd Annual Meeting of the American Academy of Neurology, Philadelphia, USA, May 2001.
- Klein C. Molecular genetics of dystonia. Plenary Lecture at the 4th International Congress of the European Paediatric Neurology Society. Baden-Baden, Germany, September 2001.
- Klein C. Molekulare Krankheitsmodelle/Neurogenetik: Dystonien. Plenary Lecture at the 74th Congress of the German Society of Neurology. Aachen, Germany, September 2001.
- Klein C. The dopamine connection, imprinting, and haploinsufficiency – What is yet to come in dystonia and Parkinson genetics? Invited lecture, Mayo Clinic Jacksonville, Jacksonville, Florida, USA, March 2003.
- Klein C. Genetics of parkinsonism. Plenary lecture at the 35th Danube Symposium, Belgrad, Serbia and Montenegro, September 2003.
- Klein C. Genetics of Movement Disorders. Faculty of the teaching course Genetics in Neurology. 56th Annual Meeting of the American Academy of Neurology, San Francisco, USA, April 2004.
- Klein C. Movement disorders: Classifications. Plenary lecture at the 41st Annual Meeting of the Society for the Study of Inborn Errors of Metabolism Amsterdam, The Netherlands, September 2004.
- Klein C. Genetic and environmental factors in the etiology of Parkinson’s disease. Plenary lecture at the 9th Internationalen Congress of the Movement Disorder Society, New Orleans, USA, March 2005.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 57th Annual Meeting of the American Academy of Neurology, Miami, USA, April 2005.
- Klein C. The Genetics of Parkinson’s disease. Contemporary Clinical Issues and Case Studies Plenary Session. Plenary lecture at the 57th Annual Meeting of the American Academy of Neurology, Miami, USA, April 2005.
- Klein C. Early-onset parkinsonism (Parkin, DJ-1 and PINK1). Co-director of the teaching course “Genetics of parkinsonism” at the 16th International Congress on Parkinson’s Disease and Related Disorders, Berlin, Germany, June, 2005.
- Klein C. Clinical and molecular genetics of Parkinson’s disease and dystonia: The dopamine connection. Lecture within the Mind Seminar Series, MassGeneral Institute for Neurodegenerative Disease, Harvard Medical School, Boston,USA, September 2005.
- Klein C. Advances in the genetics of movement disorders are revolutionizing diagnosis. Plenary lecture at the 130th Annual Meeting of the American Neurological Association, San Diego, USA, September 2005.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 58th Annual Meeting of the American Academy of Neurology, San Diego, USA, April 2006.
- Klein C. Etiology of Parkinson’s disease. Faculty of the teaching course “Parkinson’s and Movement Disorders Update” at the 58th Annual Meeting of the American Academy of Neurology, San Diego, USA, April 2006.
- Klein C. Clinical spectrum of PINK1 mutations and evidence for a role of heterozygous mutations in a large family. Faculty of the teaching course “Case Studies in Neurogenetics” at the 58th Annual Meeting of the American Academy of Neurology, San Diego, USA, April 2006.
- Klein C. Clinical and molecular genetics of primary dystonia and dystonia-plus syndromes. Invited talk at the 2. NINDS-DMRF Workshop on Dystonia, Bethesda, USA, June 2006.
- Klein C. Heterozygous mutations cause autosomal recessive familial parkinsonism – YES. Plenary controversy at the 10th International Congress of the Movement Disorder Society, Kyoto, Japan, November 2006.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 59th Annual Meeting of the American Academy of Neurology, Boston, USA, April 2007.
- Klein C. Parkinson’s disease: Basic Science. Faculty of the teaching course “Parkinson’s and Movement Disorders Update” at the 59th Annual Meeting of the American Academy of Neurology, Boston, USA, April 2007.
- Klein C. Genetic Parkinson’s disease: Implications for neurological care. Plenary lecture at the Movement Disorder Society of Australia 2007 Conference, Gold Coast, Australia, October 2007.
- Klein C. Clinical and molecular genetics of dystonia and dystonia-plus syndromes. Plenary Lecture at the Movement Disorder Society of Australia 2007 Conference, Gold Coast, Australia, October 2007.
- Klein C. Clinical and molecular genetics of dystonia and dystonia-plus syndromes. Invited lecture, Basal Ganglia Club of the Institute of Neurology and Neurosurgery, Queen Square, London, England, November 2007.
- Klein C. Genetics of movement disorders. Faculty of the teaching course “Genetics in Neurology” at the 60th Annual Meeting of the American Academy of Neurology, Chicago, USA, April 2008.
- Klein C. Course director “Neurogenetics Case Presentations” at the 60th Annual Meeting of the American Academy of Neurology, Chicago, USA, April 2008.
- Klein C. Moderator of the “Highlights Session: Movement Disorders” at the 60th Annual Meeting of the American Academy of Neurology, Chicago, USA, April 2008.
- Klein C. Contribution of genetics to the understanding of Parkinson’s disease. Plenary lecture at the 7th National Congress of Parkinson’s Disease and Movement Disorders. Bodrum, Turkey, April 2008.
- Klein C. Deciphering the role of heterozygous mutations in recessive genes linked to parkinsonism: Common benign variants or susceptibility factor? Plenary lecture at the 133rd Annual Meeting of the American Neurological Association (Derek Denny-Brown Awardee), Salt Lake City, USA, September 2008.
- Klein C. Genetics of dystonia. Plenary lecture at the 14th Annual Meeting of the German Society of Neurogenetics. Lübeck, Germany, September 2008.
- Klein C. Parkinson’s disease genotypes and (endo-)phenotypes. Invited lecture at the National Hospital of Neurology, Queen Square, London, England, January 2009.
- Klein C. Introduction to neurogenetics. Course director of the teaching course “Genetics in Neurology” at the 61st Annual Meeting of the American Academy of Neurology, Seattle, USA, April 2009.
- Klein C. Neurogenetics: The European perspective. Faculty of the teaching course “Advances in genetics and molecular biology in global neurology” at the 61st Annual Meeting of the American Academy of Neurology, Seattle, USA, April 2009.
- Klein C. Is genetic testing for parkinsonism useful? – A (qualified) yes. Invited talk, WFN XVIII World Congress on Parkinson’s Disease and Related Disorders, Miami, USA, 2009.
- Klein C. Highlights of recent advances in neurogenetics and their impact on clinical practice, ethics, and health policies. Focus on Parkinson´s disease, movement disorders, and motor neuron disease. Invited talk at the 62nd Annual Meeting der American Academy of Neurology, Toronto, Canada, April 2010.
- Klein C. Genetic testing. Plenary lecture at the 2nd World Parkinson Congress, Glasgow, Great Britain, September 2010.
- Klein C. Parkinson´s disease: what genetics has taught us. Brendel Professorship at the University of Auckland, Auckland, New Zealand, February 2011.
- Klein C. Introduction and genetics of movement disorders. Course director of the teaching course “Genetics in Neurology” at the 63rd AAN Annual Meeting of the American Academy of Neurology, Honolulu, Hawaii, USA, April 2011.
- Klein C. Genetic aspects of Parkinson´s disease. Invited talk within the Integrated Neuroscience Session: Advances in the genetics of movement disorders auf dem 63rd AAN Annual Meeting of the American Academy of Neurology, Honolulu, Hawaii, USA, April 2011.
- Klein C. Parkinson’s disease: What genetics has taught us. Grand Rounds at the University of Calgary, Canada, June 2011.
- Klein C. Parkinson’s disease: What genetics has taught us. Keynote Lecture at the 4th Hope Conference der Parkinson Alberta Society und Parkinson Society of Canada, Calgary, Canada, June 2011.
- Klein C. Genes as risk factors for dystonia. Plenary lecture at the 5th International Dystonia Symposium, Barcelona, Spain, October 2011.
- Klein C. The role of causative and modifying genes in parkinsonism and dystonia. Invited speaker of the Basal Ganglia Club of the Institute of Neurology and Neurosurgery, Queen Square, London, England, December 2011.
- Klein C. MSSM Grand Rounds Dedicated to Melvin Yahr: Translating new findings in dystonia and Parkinson disease genetics into clincial practice. Invited named lecture at the Mount Sinai Medical School of Medicine, New York, USA, April 2012.
- Klein C. University of Ottawa Neuroscience Rounds: Translating movement disorders genetics into clincial practice. Invited Lecture at the University of Ottawa, Ottawa, Canada, May 2012.
- Klein C. What is more important: DYT phenotype or genotype? Invited plenary lecture at the 16. International Congress of the Movement Disorder Society, Dublin, Irleand, June 2012.
- Klein C. Vancouver Children’s Hospital Rounds: Genetics of dystonia and non-epileptic paroxysmal dyskinesia. Invited lecture at the University of British Columbia, Vancouver, Canada, July 2012.
- Klein C. Updates on X-linked dystonia-parkinsonism: Genetics. Invited plenary lecture at the 1. International Congress of the Movement Disorder Society of the Philippines, Manila, Philippines, August 2012.
- Klein C. Phenotypic presentations of genetic parkinsonism. Hot topics in movement disorders. Invited plenary lecture at the 16. Annual Meeting of the European Federation of the Neurological Sciences (EFNS), Stockholm, Sweden, September 2012.
- Usnich T, Hauptmann B, Hanssen H, Prasuhn J, Balck A, Borsche M, Tadic V, Klee A, Noblejas-Sanchez G, Vollstedt EJ, Klein C, Brüggemann N, Kasten M, EPIPARK Study Group. Depressive symptoms in Parkinson's disease are insufficiently but more often treated than in other chronic conditions. Npj Parkinson's Disease 2023;1:113.
- Grossmann D, Malburg N, Glaß H, Weeren V, Sondermann V, Pfeiffer JF, Petters J, Lukas J, Seibler P, Klein C, Grünewald A, Hermann A. Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons. Movement Disorders : official Journal of The Movement Disorder Society 2023;in press.
- Pal G, Cook L, Schulze J, Verbrugge J, Alcalay RN, Merello M, Sue CM, Bardien S, Bonifati V, Chung SJ, Foroud T, Gatto E, Hall A, Hattori N, Lynch T, Marder K, Mascalzoni D, Novaković I, Thaler A, Raymond D, Salari M, Shalash A, Suchowersky O, Mencacci NE, Simuni T, Saunders-Pullman R, Klein C. Genetic Testing in Parkinson's Disease. Movement Disorders : official Journal of The Movement Disorder Society 2023;8:1384-1396.
- Gabbert C, Schaake S, Lüth T, Much C, Klein C, Aasly JO, Farrer MJ, Trinh J. GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters. Bmc Genomics 2023;1:322.
- Saunders-Pullman R, Raymond D, Ortega RA, Shalash A, Gatto E, Salari M, Markgraf M, Alcalay RN, Mascalzoni D, Mencacci NE, Bonifati V, Merello M, Chung SJ, Novakovic I, Bardien S, Pal G, Hall A, Hattori N, Lynch T, Thaler A, Sue CM, Foroud T, Verbrugge J, Schulze J, Cook L, Marder K, Suchowersky O, Klein C, Simuni T. International Genetic Testing and Counseling Practices for Parkinson's Disease. Movement Disorders : official Journal of The Movement Disorder Society 2023;8:1527-1535.
- Gabbert C, König IR, Lüth T, Kasten M, Grünewald A, Klein C, Trinh J. Lifestyle factors and clinical severity of Parkinson's disease. Scientific Reports 2023;1:9537.
- Tay YW, Tan AH, Lim JL, Lohmann K, Ibrahim KA, Abdul Aziz Z, Chin YT, Mawardi AS, Lim TT, Looi I, Chia YK, Ooi JCE, Cheah WK, Dy Closas AMF, Lit LC, Hor JW, Toh TS, Muthusamy KA, Bauer P, Skrahin V, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Genetic study of early-onset Parkinson's disease in the Malaysian population. Parkinsonism & Related Disorders 2023;111:105399.
- Mertin R, Diesta C, Brüggemann N, Rosales RL, Hanssen H, Westenberger A, Steinhardt J, Heldmann M, Manalo HTS, Oropilla JQ, Klein C, Helmchen C, Sprenger A. Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP). Journal of Neurology 2023;9:4262-4275.
- Loens S, Hamami F, Lohmann K, Odorfer T, Ip CW, Zittel S, Zeuner KE, Everding J, Becktepe J, Marth K, Borngräber F, Kollewe K, Kamm C, Kühn AA, Gelderblom M, Volkmann J, Klein C, Bäumer T. Tremor is associated with familial clustering of dystonia. Parkinsonism & Related Disorders 2023:105400.
- Castelo Rueda MP, Zanon A, Gilmozzi V, Lavdas AA, Raftopoulou A, Delcambre S, Del Greco F, Klein C, Grünewald A, Pramstaller PP, Hicks A, Pichler I. Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers. Npj Parkinsons Dis 2023;IF 9.3:in press..
- Borsche M, Pratuseviciute N, Schaake S, Hinrichs F, Morel G, Uter J, Lohmann K, Klein C, Alessi DR, Hagenah J, Sammler E. The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity. Mov Disord 2023;in press.
- Vos M, Klein C, Hicks AA. Role of Ceramides and Sphingolipids in Parkinson's Disease. J Mol Biol 2023:168000.
- Borsche M, Märtens A, Hörmann P, Brückmann T, Lohmann K, Tunc S, Klein C, Hiller K, Balck A. In Vivo Investigation of Glucose Metabolism in Idiopathic and PRKN-Related Parkinson's Disease. Mov Disord 2023;in press.
- Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord 2023;2:286-303.
- Thomsen M, Lange LM, Klein C, Lohmann K. MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP. Mov Disord 2023;3:507-508.
- Hanssen H, Diesta CCE, Heldmann M, Dy J, Tantianpact J, Steinhardt J, Sauza R, Manalo HTS, Sprenger A, Reyes CJ, Tuazon R, Laabs BH, Domingo A, Rosales RL, Klein C, Münte TF, Westenberger A, Oropilla JQ, Brüggemann N. Basal Ganglia Atrophy as a Marker for Prodromal X-Linked Dystonia-Parkinsonism. Ann Neurol 2023;in press.
- Biasiotto R, Kösters M, Tschigg K, Pramstaller PP, Brüggemann N, Borsche M, Klein C, Hicks AA, Mascalzoni D. Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study. Eur J Hum Genet 2023;in press.
- Mandik F, Kanana Y, Rody J, Misera S, Wilken B, Laabs von Holt BH, Klein C, Vos M. A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities. Front Cell Dev Biol 2023:1000553.
- Chemla A, Arena G, Saraiva C, Berenguer-Escuder C, Grossmann D, Grünewald A, Klein C, Seibler P, Schwamborn JC, Krüger R. Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A>G (p.T351A) or c.2067A>G (p.T610A) in the RHOT1 gene encoding Miro1. Stem Cell Res 2023;IF 1.6:in press..
- Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N, LIPAD Study Group. Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants. Parkinsonism Relat Disord 2022:105248.
- Closas AMFD, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tay YW, Muthusamy KA, Ahmad-Annuar AB, Klein C, Lim SY. A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up. J Mov Disord 2022;1:91-94.
- Klein C, Bloem BR. Research in movement disorders in 2022: a new era of biomarker and treatment development. Lancet Neurol 2022;1:17-19.
- Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease. Brain 2022;in press.
- Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review. Mov Disord 2022;3:368-377.
- Gallinat A, Rakovic A, Klein C, Badimon L. DJ-1 regulates mitochondrial gene expression during ischemia and reperfusion. Free Radic Biol Med 2022;Pt 1:430-436.
- Klein C. Let's make science, not war! Sci Adv 2022;42:eadf1663.
- Scorr LM, Cho HJ, Kilic-Berkmen G, McKay JL, Hallett M, Klein C, Baumer T, Berman BD, Feuerstein JS, Perlmutter JS, Berardelli A, Ferrazzano G, Wagle-Shukla A, Malaty IA, Jankovic J, Bellows ST, Barbano RL, Vidailhet M, Roze E, Bonnet C, Mahajan A, LeDoux MS, Fung VSC, Chang FCF, Defazio G, Ercoli T, Factor S, Wojno T, Jinnah HA. Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review. Dystonia 2022;in press.
- Rosenbohm A, Pott H, Thomsen M, Rafehi H, Kaya S, Szymczak S, Volk AE, Mueller K, Silveira I, Weishaupt JH, Tönnies H, Seibler P, Zschiedrich K, Schaake S, Westenberger A, Zühlke C, Depienne C, Trinh J, Ludolph AC, Klein C, Bahlo M, Lohmann K. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study. Mov Disord 2022;12:2427-2439.
- Pramstaller PP, Berlit P, Bassetti CLA, Klein C. What if I could become the doctor I always wanted to be? Eur J Neurol 2022;12:3481-3483.
- Peters E, Alabid A, Elsner S, Klein C, Borsche M, Rupp J, Katalinic A. [Quality assurance follow-up survey of the ELISA cohort study on the prevalence of COVID-19: The view of study participants – What is well received?]. Z Evid Fortbild Qual Gesundhwes 2022:59-69.
- Shafique A, Arif B, Chu ML, Moran E, Hussain T, Zamora FM, Wohler E, Sobreira N, Klein C, Lohmann K, Naz S. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. Journal of Medical Genetics 2022;4:352-358.
- Algodon SM, Fischer T, Rosales R, Jamora RD, Diesta CC, Saranza G, Brüggemann N, Klein C, Westenberger A. Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders. Mov Disord 2022;10:2168-2169.
- Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A. Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism. Mov Disord 2022;11:2284-2289.
- Periñán MT, Brolin K, Bandres-Ciga S, Blauwendraat C, Klein C, Gan-Or Z, Singleton A, Gomez-Garre P, Swanberg M, Mir P, Noyce A. Effect Modification between Genes and Environment and Parkinson's Disease Risk. Ann Neurol 2022;5:715-724.
- Balck A, Föh B, Borsche M, Rahmöller J, Vollstedt EJ, Waldeck F, Käding N, Twesten C, Mischnik A, Gillessen-Kaesbach G, Ehlers M, Sina C, Taube S, Busch H, Rupp J, Katalinic A, Klein C. Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study. BMC Public Health 2022;1:1305.
- Kilic-Berkmen G, Defazio G, Hallett M, Berardelli A, Ferrazzano G, Belvisi D, Klein C, Bäumer T, Weissbach A, Perlmutter JS, Feuerstein J, Jinnah HA, Dystonia Coalition Investigators. Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence. J Neurol Sci 2022:120319.
- Bottigliengo D, Foco L, Seibler P, Klein C, König IR, Del Greco M F. A Mendelian randomization study investigating the causal role of inflammation on Parkinson's disease. Brain 2022;10:3444-3453.
- Steinhardt J, Hanssen H, Heldmann M, Sprenger A, Laabs BH, Domingo A, Reyes CJ, Prasuhn J, Brand M, Rosales R, Münte TF, Klein C, Westenberger A, Oropilla JQ, Diesta C, Brüggemann N. Prodromal X-Linked Dystonia-Parkinsonism is Characterized by a Subclinical Motor Phenotype. Mov Disord 2022;7:1474-1482.
- Usnich T, Hanssen H, Lohmann K, Lohse C, Klein C, Kasten M, Brüggemann N, EPIPARK Study Group. Pronounced Orthostatic Hypotension in GBA-Related Parkinson's Disease. J Parkinsons Dis 2022;5:1539-1544.
- Trinh J, Lüth T, Schaake S, Laabs BH, Schlüter K, Laβ J, Pozojevic J, Tse R, König I, Jamora RD, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Kaiser FJ, Depienne C, Pearson CE, Westenberger A, Klein C. Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset. Brain 2022;3:1075-1082.
- Klein C, Borsche M, Balck A, Föh B, Rahmöller J, Peters E, Knickmann J, Lane M, Vollstedt EJ, Elsner SA, Käding N, Hauswaldt S, Lange T, Hundt JE, Lehrian S, Giese J, Mischnik A, Niemann S, Maurer F, Homolka S, Paulowski L, Kramer J, Twesten C, Sina C, Gillessen-Kaesbach G, Busch H, Ehlers M, Taube S, Rupp J, Katalinic A. One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk. Sci Adv 2022;15:eabm5016.
- Rakovic A, Voß D, Vulinovic F, Meier B, Hellberg AK, Nau C, Klein C, Leipold E. Electrophysiological Properties of Induced Pluripotent Stem Cell-Derived Midbrain Dopaminergic Neurons Correlate With Expression of Tyrosine Hydroxylase. Front Cell Neurosci 2022:817198.
- Krajka V, Vulinovic F, Genova M, Tanzer K, Jijumon AS, Bodakuntla S, Tennstedt S, Mueller-Fielitz H, Meier B, Janke C, Klein C, Rakovic A. H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects. Sci Adv 2022;10:eabj9229.
- Prasuhn J, Göttlich M, Gerkan F, Kourou S, Ebeling B, Kasten M, Hanssen H, Klein C, Brüggemann N. Relationship between brain iron deposition and mitochondrial dysfunction in idiopathic Parkinson's disease. Mol Med 2022;1:28.
- Gabbert C, König IR, Lüth T, Kolms B, Kasten M, Vollstedt EJ, Balck A, Grünewald A, Klein C, Trinh J. Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson's disease. J Neurol 2022;8:4195-4203.
- Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A. Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. Int J Mol Sci 2022;4
- Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS, Hallett M, Klein C, Wagle-Shukla A, Malaty IA, Reich SG, Berman BD, Feuerstein J, Vidailhet M, Roze E, Jankovic J, Mahajan A, Espay AJ, Barbano RL, LeDoux MS, Pantelyat A, Frank S, Stover N, Berardelli A, Leegwater-Kim J, Defazio G, Norris SA, Jinnah HA, Dystonia Coalition Investigators. Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations. Mov Disord Clin Pract 2022;2:183-190.
- Caldi Gomes L, Galhoz A, Jain G, Roser AE, Maass F, Carboni E, Barski E, Lenz C, Lohmann K, Klein C, Bähr M, Fischer A, Menden MP, Lingor P. Multi-omic landscaping of human midbrains identifies disease-relevant molecular targets and pathways in advanced-stage Parkinson's disease. Clin Transl Med 2022;1:e692.
- Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J. Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. Genes (Basel) 2022;1
- Vos M, Klein C. Ceramide-induced mitophagy impairs ß-oxidation-linked energy production in PINK1 deficiency. Autophagy 2022;3:703-704.
- Weissbach A, Steinmeier A, Pauly M, Al-Shorafat DM, Saranza G, Lang A, Brüggemann N, Tadic V, Klein C, Münchau A, Bäumer T, Brown MJN. Longitudinal evaluations of somatosensory-motor inhibition in Dopa-responsive dystonia. Parkinsonism Relat Disord 2022:40-46.
- de Leon MAJ, Rosales RL, Klein C, Westenberger A. A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report. BMC Neurol 2022;1:11.
- Wasner K, Smajic S, Ghelfi J, Delcambre S, Prada-Medina CA, Knappe E, Arena G, Mulica P, Agyeah G, Rakovic A, Boussaad I, Badanjak K, Ohnmacht J, Gérardy JJ, Takanashi M, Trinh J, Mittelbronn M, Hattori N, Klein C, Antony P, Seibler P, Spielmann M, Pereira SL, Grünewald A. Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation. Mov Disord 2022;7:1405-1415.
- van der Veen S, Zutt R, Klein C, Marras C, Berkovic SF, Caviness JN, Shibasaki H, de Koning TJ, Tijssen MAJ. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord 2022;11:1602-1613.
- Koch S, Laabs BH, Kasten M, Vollstedt EJ, Becktepe J, Brüggemann N, Franke A, Krämer UM, Kuhlenbäumer G, Lieb W, Mollenhauer B, Neis M, Trenkwalder C, Schäffer E, Usnich T, Wittig M, Klein C, König IR, Lohmann K, Krawczak M, Caliebe A. Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease. Genes (Basel) 2021;12
- Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K. Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review. Mov Disord 2021;2:237-252.
- Lim JL, Lohmann K, Tan AH, Tay YW, Ibrahim KA, Abdul Aziz Z, Mawardi AS, Puvanarajah SD, Lim TT, Looi I, Ooi JCE, Chia YK, Muthusamy KA, Bauer P, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features. J Neural Transm (Vienna) 2021;1:37-48.
- Capponi S, Stöffler N, Penney EB, Grütz K, Nizamuddin S, Vermunt MW, Castelijns B, Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Muñoz EL, Ang MA, Diesta CCE, Creyghton MP, Klein C, Bragg DC, De Rijk P, Timmers HTM. Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism. Brain Commun 2021;4:fcab253.
- Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN, ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease, Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors, Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. The commercial genetic testing landscape for Parkinson's disease. Parkinsonism Relat Disord 2021:107-111.
- Vos M, Dulovic-Mahlow M, Mandik F, Frese L, Kanana Y, Haissatou Diaw S, Depperschmidt J, Böhm C, Rohr J, Lohnau T, König IR, Klein C. Ceramide accumulation induces mitophagy and impairs β-oxidation in PINK1 deficiency. Proc Natl Acad Sci U S A 2021;43
- Lüth T, Wasner K, Klein C, Schaake S, Tse R, Pereira SL, Laß J, Sinkkonen L, Grünewald A, Trinh J. Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept. Front Aging Neurosci 2021:713084.
- Jarazo J, Barmpa K, Modamio J, Saraiva C, Sabaté-Soler S, Rosety I, Griesbeck A, Skwirblies F, Zaffaroni G, Smits LM, Su J, Arias-Fuenzalida J, Walter J, Gomez-Giro G, Monzel AS, Qing X, Vitali A, Cruciani G, Boussaad I, Brunelli F, Jäger C, Rakovic A, Li W, Yuan L, Berger E, Arena G, Bolognin S, Schmidt R, Schröder C, Antony PMA, Klein C, Krüger R, Seibler P, Schwamborn JC. Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-β-Cyclodextrin Treatment. Mov Disord 2021;1:80-94.
- Krajka V, Naujock M, Pauly MG, Stengel F, Meier B, Stanslowsky N, Klein C, Seibler P, Wegner F, Capetian P. Ventral Telencephalic Patterning Protocols for Induced Pluripotent Stem Cells. Front Cell Dev Biol 2021:716249.
- Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C, LIPAD Study Group. LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort. Front Neurol 2021:710572.
- Castelo Rueda MP, Raftopoulou A, Gögele M, Borsche M, Emmert D, Fuchsberger C, Hantikainen EM, Vukovic V, Klein C, Pramstaller PP, Pichler I, Hicks AA. Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort. Front Neurol 2021:706145.
- Kleineberg NN, Knauss S, Gülke E, Pinnschmidt HO, Jakob CEM, Lingor P, Hellwig K, Berthele A, Höglinger G, Fink GR, Endres M, Gerloff C, Klein C, Stecher M, Classen AY, Rieg S, Borgmann S, Hanses F, Rüthrich MM, Hower M, Tometten L, Haselberger M, Piepel C, Merle U, Dolff S, Degenhardt C, Jensen BO, Vehreschild MJGT, Erber J, Franke C, Warnke C, LEOSS Study Group. Neurological symptoms and complications in predominantly hospitalized COVID-19 patients: Results of the European multinational Lean European Open Survey on SARS-Infected Patients (LEOSS). Eur J Neurol 2021;12:3925-3937.
- Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. A Multi-center Genome-wide Association Study of Cervical Dystonia. Mov Disord 2021;12:2795-2801.
- Schulz JB, Berlit P, Diener HC, Gerloff C, Greinacher A, Klein C, Petzold GC, Piccininni M, Poli S, Röhrig R, Steinmetz H, Thiele T, Kurth T, German Society of Neurology SARS-CoV-2 Vaccination Study Group. COVID-19 Vaccine-Associated Cerebral Venous Thrombosis in Germany. Ann Neurol 2021;4:627-639.
- Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J. Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. Neurol Genet 2021;4:e608.
- Saper CB, Klein C, McArthur JC, Pearl PL, Goetz CG. Remembrance of Things Past: A Critical Step in Changing our Future. Ann Neurol 2021;4:521-523.
- Borsche M, Reichel D, Fellbrich A, Lixenfeld AS, Rahmöller J, Vollstedt EJ, Föh B, Balck A, Klein C, Ehlers M, Moser A. Persistent cognitive impairment associated with cerebrospinal fluid anti-SARS-CoV-2 antibodies six months after mild COVID-19. Neurol Res Pract 2021;1:34.
- Weissbach A, Steinmeier A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Brüggemann N, Tadic V, Klein C, Lohmann K, Brown MJN, Beste C, Münchau A, Bäumer T. Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia. Mov Disord 2021;8:1986-1987.
- Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun 2021;1:3216.
- Mascalzoni D, Biasiotto R, Borsche M, Brüggemann N, De Grandi A, Goegele M, Frygner-Holm S, Klein C, Kösters M, Staunton C, Pramstaller PP, Krawczak M, Hicks AA. Balancing scientific interests and the rights of participants in designing a recall by genotype study. Eur J Hum Genet 2021;7:1146-1157.
- Cook L, Schulze J, Kopil C, Hastings T, Naito A, Wojcieszek J, Payne K, Alcalay RN, Klein C, Saunders-Pullman R, Simuni T, Foroud T. Genetic Testing for Parkinson Disease: Are We Ready? Neurol Clin Pract 2021;1:69-77.
- Liu G, Peng J, Liao Z, Locascio JJ, Corvol JC, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J, International Genetics of Parkinson Disease Progression (IGPP) Consortium, Scherzer CR. Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease. Nat Genet 2021;6:787-793.
- Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, Follett J, Farrer MJ, Trinh J, Gasser T, Goldwurm S, Gustavsson E, Klein C, Lang AE, Langston JW, Latourelle J, Lynch T, Marder K, Marras C, Martin ER, McLean CY, Mejia-Santana H, Molho E, Myers RH, Nuytemans K, Ozelius L, Payami H, Raymond D, Rogaeva E, Rogers MP, Ross OA, Samii A, Saunders-Pullman R, Schüle B, Schulte C, Scott WK, Tanner C, Tolosa E, Tomkins JE, Vilas D, Trojanowski JQ, 23andMe Research Team, Uitti R, Vance JM, Visanji NP, Wszolek ZK, Zabetian CP, Mirelman A, Giladi N, Orr Urtreger A, Cannon P, Fiske B, Foroud T. Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease. Ann Neurol 2021;1:76-88.
- Klein C, König IR. Exploring Uncharted Territory: Genetically Determined Sex Differences in Parkinson's Disease. Ann Neurol 2021;1:15-18.
- Prasuhn J, Borsche M, Hicks AA, Gögele M, Egger C, Kritzinger C, Pichler I, Castelo-Rueda MP, Langlott L, Kasten M, Mascalzoni D, Klein C, Pramstaller PP, Brüggemann N. Task matters – challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism Relat Disord 2021:101-104.
- Gisatulin M, Rossi M, Perandones C, Klein C, Lohmann K, Merello M. Involuntary moaning in a Hispanic family with eight affected members. Parkinsonism Relat Disord 2021:206-208.
- Vos M, Klein C. The Importance of Drosophila melanogaster Research to UnCover Cellular Pathways Underlying Parkinson's Disease. Cells 2021;3
- Mestre TA, Fereshtehnejad SM, Berg D, Bohnen NI, Dujardin K, Erro R, Espay AJ, Halliday G, van Hilten JJ, Hu MT, Jeon B, Klein C, Leentjens AFG, Marinus J, Mollenhauer B, Postuma R, Rajalingam R, Rodríguez-Violante M, Simuni T, Surmeier DJ, Weintraub D, McDermott MP, Lawton M, Marras C. Parkinson's Disease Subtypes: Critical Appraisal and Recommendations. J Parkinsons Dis 2021;2:395-404.
- Huber MK, Raichle C, Lingor P, Synofzik M, Borgmann S, Erber J, Tometten L, Rimili W, Dolff S, Wille K, Knauss S, Piepel C, Lanznaster J, Rieg S, Prasser F, Pilgram L, Spottke A, Klockgether T, Klein C, Hopfner F, Höglinger GU, LEOSS Study Group. Outcomes of SARS-CoV-2 Infections in Patients with Neurodegenerative Diseases in the LEOSS Cohort. Mov Disord 2021;4:791-793.
- Jamora RDG, Suratos CTR, Bautista JEC, Ramiro GMI, Westenberger A, Klein C, Ledesma LK. Neurocognitive profile of patients with X-linked dystonia-parkinsonism. J Neural Transm (Vienna) 2021;5:671-678.
- Grütz K, Klein C. Dystonia updates: definition, nomenclature, clinical classification, and etiology. J Neural Transm (Vienna) 2021;4:395-404.
- Baumann H, Ott F, Weber J, Trilck-Winkler M, Münchau A, Zittel S, Kostić VS, Kaiser FJ, Klein C, Busch H, Seibler P, Lohmann K. Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. Mov Disord 2021;6:1381-1391.
- Prasuhn J, Kasten M, Vos M, König IR, Schmid SM, Wilms B, Klein C, Brüggemann N. The Use of Vitamin K2 in Patients With Parkinson's Disease and Mitochondrial Dysfunction (PD-K2): A Theranostic Pilot Study in a Placebo-Controlled Parallel Group Design. Front Neurol 2021:592104.
- Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord 2021;5:730-741.
- Vollstedt EJ, Warrlich E, Hauptmann B, Hanssen H, Klein C, Kasten M, EPIPARK Study Group. Letter to the Editor about the Ongre et al. publication: ‘Progression of fatigue in Parkinson's disease-a 9-year follow-up' (Eur J Neurol 2020. doi: 10.1111/ene.14520). Eur J Neurol 2021;6:e35-e36.
- Tran F, Klein C, Arlt A, Imm S, Knappe E, Simmons A, Rosenstiel P, Seibler P. Stem Cells and Organoid Technology in Precision Medicine in Inflammation: Are We There Yet? Front Immunol 2021:573562.
- Lim SY, Tan AH, Ahmad-Annuar A, Klein C, Tan LCS, Rosales RL, Bhidayasiri R, Wu YR, Shang HF, Evans AH, Pal PK, Hattori N, Tan CT, Jeon B, Tan EK, Lang AE. Parkinson's disease in the Western Pacific Region. Lancet Neurol 2021;9:865-879.
- Trinh J, Zeldenrust FMJ, Huang J, Kasten M, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C. Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review. Mov Disord 2021;12:1857-1870.
- Prasuhn J, Brüggemann N, Hessler N, Berg D, Gasser T, Brockmann K, Olbrich D, Ziegler A, König IR, Klein C, Kasten M. An omics-based strategy using coenzyme Q10 in patients with Parkinson's disease: concept evaluation in a double-blind randomized placebo-controlled parallel group trial. Neurol Res Pract 2020:31.
- Skrahina V, Gaber H, Vollstedt EJ, Förster TM, Usnich T, Curado F, Brüggemann N, Paul J, Bogdanovic X, Zülbahar S, Olmedillas M, Skobalj S, Ameziane N, Bauer P, Csoti I, Koleva-Alazeh N, Grittner U, Westenberger A, Kasten M, Beetz C, Klein C, Rolfs A, ROPAD Study Group. The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings. Mov Disord 2020;4:1005-1010.
- Kline EM, Houser MC, Herrick MK, Seibler P, Klein C, West A, Tansey MG. Genetic and Environmental Factors in Parkinson's Disease Converge on Immune Function and Inflammation. Mov Disord 2020;1:25-36.
- Pott H, Brüggemann N, Reese R, Zeuner KE, Gandor F, Gruber D, DysTract Study Group, Klein C, Volkmann J, Lohmann K. Truncating VPS16 Mutations Are Rare in Early Onset Dystonia. Ann Neurol 2020;3:625-626.
- Föh B, Borsche M, Balck A, Taube S, Rupp J, Klein C, Katalinic A. Complications of nasal and pharyngeal swabs: a relevant challenge of the COVID-19 pandemic? Eur Respir J 2020;4
- Lange LM, Klein C. Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia. Mov Disord 2020;1:84.
- Santos-García D, Pozojevic J, de Deus Fonticoba T, Kurtis M, Gamez J, Klein C, Monje MHG, Westenberger A. First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation. Mov Disord 2020;2:523-525.
- Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Ann Neurol 2020;3:485-497.
- Dulovic-Mahlow M, König IR, Trinh J, Diaw SH, Urban PP, Knappe E, Kuhnke N, Ingwersen LC, Hinrichs F, Weber J, Kupnicka P, Balck A, Delcambre S, Vollbrandt T, Grünewald A, Klein C, Seibler P, Lohmann K. Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity. Ann Neurol 2020;1:158-164.
- Borsche M, Pereira SL, Klein C, Grünewald A. Mitochondria and Parkinson's Disease: Clinical, Molecular, and Translational Aspects. J Parkinsons Dis 2020;1:45-60.
- Noyce AJ, Klein C. Genetic Risk of Alzheimer's Disease – Sleepless with the Enemy. Ann Neurol 2020;1:27-29.
- Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA. Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort. Neurology 2020;4:e563-e574.
- Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Brain 2020;10:3041-3051.
- Delcambre S, Ghelfi J, Ouzren N, Grandmougin L, Delbrouck C, Seibler P, Wasner K, Aasly JO, Klein C, Trinh J, Pereira SL, Grünewald A. Mitochondrial Mechanisms of LRRK2 G2019S Penetrance. Front Neurol 2020:881.
- Wasner K, Grünewald A, Klein C. Parkin-linked Parkinson's disease: From clinical insights to pathogenic mechanisms and novel therapeutic approaches. Neurosci Res 2020:34-39.
- Pauly MG, Ruiz López M, Westenberger A, Saranza G, Brüggemann N, Weissbach A, Rosales RL, Diesta CC, Jamora RDG, Reyes CJ, Madoev H, Petkovic S, Ozelius LJ, Klein C, Domingo A. Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example. Mov Disord 2020;11:1933-1938.
- Busch H, Klein C. ‘Moving genes': how dystonia genes functionally converge on the transcriptome. Brain 2020;9:2631-2634.
- Krause C, Schaake S, Grütz K, Sievert H, Reyes CJ, König IR, Laabs BH, Jamora RD, Rosales RL, Diesta CCE, Pozojevic J, Gemoll T, Westenberger A, Kaiser FJ, Klein C, Kirchner H. DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-Parkinsonism. Mov Disord 2020;12:2220-2229.
- Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R. A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease. Sci Transl Med 2020;560
- Lüth T, König IR, Grünewald A, Kasten M, Klein C, Hentati F, Farrer M, Trinh J. Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors. Mov Disord 2020;10:1854-1858.
- Tan AH, Lohmann K, Tay YW, Lim JL, Ahmad-Annuar A, Ramli N, Chin YT, Mawardi AS, Azmi K, Aziz ZA, Puvanarajah SD, Bauer P, Klein C, Rolfs A, Lim SY. PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases. Parkinsonism Relat Disord 2020:34-39.
- Norris SA, Jinnah HA, Klein C, Jankovic J, Berman BD, Roze E, Mahajan A, Espay AJ, Murthy AV, Fung VSC, LeDoux MS, Chang FCF, Vidailhet M, Testa C, Barbano R, Malaty IA, Bäumer T, Loens S, Wright LJ, Perlmutter JS. Clinical and Demographic Characteristics of Upper Limb Dystonia. Mov Disord 2020;11:2086-2090.
- Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D. Don't do harm by diagnosis – An abnormal cranial CT: Still fa(h)r from a disease. Parkinsonism Relat Disord 2020:116-118.
- San Luciano M, Tanner CM, Meng C, Marras C, Goldman SM, Lang AE, Tolosa E, Schüle B, Langston JW, Brice A, Corvol JC, Goldwurm S, Klein C, Brockman S, Berg D, Brockmann K, Ferreira JJ, Tazir M, Mellick GD, Sue CM, Hasegawa K, Tan EK, Bressman S, Saunders-Pullman R, Michael J. Fox Foundation LRRK2 Cohort Consortium. Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance. Mov Disord 2020;10:1755-1764.
- Lim SY, Lim JL, Ahmad-Annuar A, Lohmann K, Tan AH, Lim KB, Tay YW, Shing YL, Muthusamy KA, Bauer P, Rolfs A, Klein C. Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters. Neurodegener Dis 2020;1:39-45.
- Cascalho A, Foroozandeh J, Hennebel L, Swerts J, Klein C, Rous S, Dominguez Gonzalez B, Pisani A, Meringolo M, Gallego SF, Verstreken P, Seibler P, Goodchild RE. Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia. Brain 2020;6:1746-1765.
- Winkler AS, Knauss S, Schmutzhard E, Leonardi M, Padovani A, Abd-Allah F, Charway-Felli A, Emmrich JV, Umapathi T, Satishchandra P, Hoo FK, Dalmau J, Oreja-Guevara C, Ferreira MLB, Pfausler B, Michael BD, Tagliavini F, Höglinger G, Endres M, Klein C, Hemmer B, Carroll W, Sejvar J, Solomon T. A call for a global COVID-19 Neuro Research Coalition. Lancet Neurol 2020;6:482-484.
- Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Private variants in PRKN are associated with late-onset Parkinson's disease. Parkinsonism Relat Disord 2020:24-26.
- Mainka T, Biskup S, Kühn AA, Klein C, Lohmann K, Ganos C. Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation. Mov Disord Clin Pract 2020;4:453-455.
- Saranza G, Grütz K, Klein C, Westenberger A, Lang AE. Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia. Brain 2020;5:e36.
- Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease. Mov Disord 2020;7:1245-1248.
- Stengel F, Vulinovic F, Meier B, Grütz K, Klein C, Capetian P. Impaired differentiation of human induced neural stem cells by TOR1A overexpression. Mol Biol Rep 2020;5:3993-4001.
- Lang AE, Bally JF, Breen DP, Schaake S, Trinh J, Rakovic A, Klein C. Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors. Parkinsonism Relat Disord 2020:80.
- Tolosa E, Vila M, Klein C, Rascol O. LRRK2 in Parkinson disease: challenges of clinical trials. Nat Rev Neurol 2020;2:97-107.
- Trinh J, Klein C. Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome. Ann Neurol 2020;2:172-174.
- Germer EL, Imhoff S, Vilariño-Güell C, Kasten M, Seibler P, Brüggemann N, International Parkinson’s Disease Genomics Consortium., Klein C, Trinh J. The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. Front Neurol 2020:1284.
- Westenberger A, Klein C. Essential phenotypes of NOTCH2NLC-related repeat expansion disorder. Brain 2019;1:5-8.
- Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Rose E, Jinnah HA, Perlmutter JS. Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. J Neurol Neurosurg Psychiatry 2019;in press.
- Weissbach A, Wittke C, Kasten M, Klein C. ‘Atypical' Parkinson's disease – genetic. Int Rev Neurobiol 2019:207-235.
- Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrahrou Z, Erdmann J, Klein C, Alvarez-Fischer D. Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification. Brain 2019;1:e1.
- Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. J Neurol 2019;in press.
- Dulovic-Mahlow M, Lukomska A, Diaw SH, Balck A, Borsche M, Grütz K, Lenz I, Rudolph F, Lohmann K, Klein C, Seibler P. Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease. Stem Cell Res 2019:101629.
- Nickels SL, Walter J, Bolognin S, Gérard D, Jaeger C, Qing X, Tisserand J, Jarazo J, Hemmer K, Harms A, Halder R, Lucarelli P, Berger E, Antony PMA, Glaab E, Hankemeier T, Klein C, Sauter T, Sinkkonen L, Schwamborn JC. Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. Parkinsonism Relat Disord 2019:48-55.
- Grover S, Lill CM, Kasten M, Klein C, Del Greco M F, König IR. Risky behaviors and Parkinson disease: A mendelian randomization study. Neurology 2019;15:e1412-e1424.
- Hanssen H, Prasuhn J, Heldmann M, Diesta CC, Domingo A, Göttlich M, Blood AJ, Rosales RL, Jamora RDG, Münte TF, Klein C, Brüggemann N. Imaging gradual neurodegeneration in a basal ganglia model disease. Ann Neurol 2019;4:517-526.
- Borsche M, Balck A, Kasten M, Lohmann K, Klein C, Brüggemann N. The sooner, the later – Delayed diagnosis in Parkinson's disease due to Parkin mutations. Parkinsonism Relat Disord 2019:284-285.
- Münchau A, Schöls L, Klein C, Graessner H. [Model for personalized diagnostics and treatment in neurology-German Academy for Rare Neurological Diseases]. Nervenarzt 2019;8:796-803.
- Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C. Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy? Ann Clin Transl Neurol 2019;6:1102-1105.
- Krause C, Sievert H, Geißler C, Grohs M, El Gammal AT, Wolter S, Ohlei O, Kilpert F, Krämer UM, Kasten M, Klein C, Brabant GE, Mann O, Lehnert H, Kirchner H. Critical evaluation of the DNA-methylation markers ABCG1 and SREBF1 for Type 2 diabetes stratification. Epigenomics 2019;8:885-897.
- Vollstedt EJ, Kasten M, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. Using global team science to identify genetic parkinson's disease worldwide. Ann Neurol 2019;2:153-157.
- Ouzren N, Delcambre S, Ghelfi J, Seibler P, Farrer MJ, König IR, Aasly JO, Trinh J, Klein C, Grünewald A. Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers. Ann Neurol 2019;2:324-326.
- Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. Ann Neurol 2019;6:812-822.
- Brüggemann N, Klein C. Will genotype drive treatment options? Mov Disord 2019;9:1294-1299.
- Connor-Robson N, Booth H, Martin JG, Gao B, Li K, Doig N, Vowles J, Browne C, Klinger L, Juhasz P, Klein C, Cowley SA, Bolam P, Hirst W, Wade-Martins R. An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2. Neurobiol Dis 2019:512-526.
- Klein C, Baumann H, Olschewski L, Hanssen H, Münchau A, Ferbert A, Brüggemann N, Lohmann K. De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient. Parkinsonism Relat Disord 2019:337-339.
- Trinh J, Tadic V, Klein C. How Do I Confirm that a New Mutation is Pathogenic? Mov Disord Clin Pract 2019;2:229.
- Guida M, Zanon A, Montibeller L, Lavdas AA, Ladurner J, Pischedda F, Rakovic A, Domingues FS, Piccoli G, Klein C, Pramstaller PP, Hicks AA, Pichler I. Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells. Int J Mol Sci 2019;3
- Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. Role of ANO3 mutations in dystonia: A large-scale mutational screening study. Parkinsonism Relat Disord 2019:196-200.
- Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A. Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants. Hum Mutat 2019;12:2444.
- Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the ‘IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord 2019;12:1901-1904.
- Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol 2019;4:460-467.
- Klein C, Hattori N, Marras C. MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease. J Parkinsons Dis 2018;s1:S25-S30.
- Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A, International Parkinson's Disease Genomics Consortium (IPDGC)., Klein C. Utility and implications of exome sequencing in early-onset Parkinson's disease. Mov Disord 2018;1:133-137.
- Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol 2018;2:211-216.
- Chung SJ, König IR, Lohmann K, Hinrichs F, Kim J, Ryu HS, Lee HJ, Kim K, Lee JH, Jung KW, Kim MJ, Kim MJ, Kim YJ, Yun SC, Hong SM, Myung SJ, Klein C. Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease. Parkinsonism Relat Disord 2018:151-155.
- Rakovic A, Ziegler J, Mårtensson CU, Prasuhn J, Shurkewitsch K, König P, Paulson HL, Klein C. PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion. Cell Death Differ 2018;8:1428-1441.
- Penamora-Destriza JM, Domingo A, Schmidt TGPM, Westenberger A, Klein C, Rosales R. First Report of a Filipino with Mohr-Tranebjaerg Syndrome. Mov Disord Clin Pract 2018;4:417-419.
- Sprenger A, Hanssen H, Hagedorn I, Prasuhn J, Rosales RL, Jamora RDG, Diesta CC, Domingo A, Klein C, Brüggemann N, Helmchen C. Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration. Parkinsonism Relat Disord 2018:170-178.
- Kishinevsky S, Wang T, Rodina A, Chung SY, Xu C, Philip J, Taldone T, Joshi S, Alpaugh ML, Bolaender A, Gutbier S, Sandhu D, Fattahi F, Zimmer B, Shah SK, Chang E, Inda C, Koren J 3rd, Saurat NG, Leist M, Gross SS, Seshan VE, Klein C, Tomishima MJ, Erdjument-Bromage H, Neubert TA, Henrickson RC, Chiosis G, Studer L. HSP90-incorporating chaperome networks as biosensor for disease-related pathways in patient-specific midbrain dopamine neurons. Nat Commun 2018;1:4345.
- Chakraborty J, von Stockum S, Marchesan E, Caicci F, Ferrari V, Rakovic A, Klein C, Antonini A, Bubacco L, Ziviani E. USP14 inhibition corrects an in vivo model of impaired mitophagy. EMBO Mol Med 2018;11
- Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain 2018;10:2995-3008.
- Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C. Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. Brain 2018;10:3052-3064.
- Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord 2018;7:1108-1118.
- Sliter DA, Martinez J, Hao L, Chen X, Sun N, Fischer TD, Burman JL, Li Y, Zhang Z, Narendra DP, Cai H, Borsche M, Klein C, Youle RJ. Parkin and PINK1 mitigate STING-induced inflammation. Nature 2018;7722:258-262.
- Ohlei O, Dobricic V, Lohmann K, Klein C, Lill CM, Bertram L. Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. Parkinsonism Relat Disord 2018:50-57.
- Capetian P, Stanslowsky N, Bernhardi E, Grütz K, Domingo A, Brüggemann N, Naujock M, Seibler P, Klein C, Wegner F. Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. Experimental Neurology 2018:47-58.
- Trinh J, Hüning I, Yüksel Z, Baalmann N, Imhoff S, Klein C, Rolfs A, Gillessen-Kaesbach G, Lohmann K. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. J Hum Genet 2018;9:997-1001.
- Valadas JS, Esposito G, Vandekerkhove D, Miskiewicz K, Deaulmerie L, Raitano S, Seibler P, Klein C, Verstreken P. ER Lipid Defects in Neuropeptidergic Neurons Impair Sleep Patterns in Parkinson's Disease. Neuron 2018;6:1155-1169.e6.
- Steinlechner S, Jabusch HC, Altenmüller E, Borngräber F, Hagenah J, Klein C, Lencer R, Schmidt A. Personality profiles are different in musician's dystonia and other isolated focal dystonias. Psychiatry Res 2018:26-29.
- Heldmann M, Heeren J, Klein C, Rauch L, Hagenah J, Münte TF, Kasten M, Brüggemann N. Neuroimaging abnormalities in individuals exhibiting Parkinson's disease risk markers. Mov Disord 2018;9:1412-1422.
- Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP, International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord 2018;7:1056-1076.
- Marek M, Linnepe S, Klein C, Hummel T, Paus S. High prevalence of olfactory dysfunction in cervical dystonia. Parkinsonism Relat Disord 2018:33-36.
- Mestre TA, Pont-Sunyer C, Kausar F, Visanji NP, Ghate T, Connolly BS, Gasca-Salas C, Kern DS, Jain J, Slow EJ, Faust-Socher A, Kasten M, Wadia PM, Zadikoff C, Kumar P, de Bie RM, Thomsen T, Lang AE, Schüle B, Klein C, Tolosa E, Marras C. Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study. Mov Disord 2018;6:960-965.
- Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol 2018;6:1075-1088.
- Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A. WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype. Neurol Genet 2018;2:e227.
- Kuseyri O, Weissbach A, Bruggemann N, Klein C, Giżewska M, Karall D, Scholl-Bürgi S, Romanowska H, Krzywińska-Zdeb E, Monavari AA, Knerr I, Yapıcı Z, Leuzzi V, Opladen T. Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders. Journal of inherited Metabolic Disease 2018;5:849-863.
- Heinzel S, Kasten M, Behnke S, Vollstedt EJ, Klein C, Hagenah J, Pausch C, Heilmann R, Brockmann K, Suenkel U, Yilmaz R, Liepelt-Scarfone I, Walter U, Berg D. Age- and sex-related heterogeneity in prodromal Parkinson's disease. Mov Disord 2018;6:1025-1027.
- Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lee LV, Rosales RL, Brüggemann N. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. Neuroimage Clin 2018:835-846.
- Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 2018;5:897-909.e21.
- Pauly MG, Krajka V, Stengel F, Seibler P, Klein C, Capetian P. Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells. Front Cell Dev Biol 2018:3.
- Park JS, Koentjoro B, Klein C, Sue CM. Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's Disease. Mov Disord 2018;5:852-854.
- Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Mov Disord 2018;3:482-488.
- Prasuhn J, Mårtensson CU, Krajka V, Klein C, Rakovic A. Genome-Edited, TH-expressing Neuroblastoma Cells as a Disease Model for Dopamine-Related Disorders: A Proof-of-Concept Study on DJ-1-deficient Parkinsonism. Front Cell Neurosci 2018:426.
- Ebrahimi-Fakhari D, Moufawad El Achkar C, Klein C, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. PRRT2-Associated Paroxysmal Movement Disorders. 2018;in press.
- Geschwind DH, Paulson HL, Klein C. Preface. Handb Clin Neurol 2018:ix-x.
- Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler P. SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila. Hum Mol Genet 2018;13:2412-2425.
- Klein C. Genetics Series. Mov Disord 2018;4:435.
- Kumar KR, Lohmann K, Klein C. Genetics of Parkinson disease and other movement disorders. Curr Opin Neurol 2018;4:466-474.
- Huang E, Qu D, Huang T, Rizzi N, Boonying W, Krolak D, Ciana P, Woulfe J, Klein C, Slack RS, Figeys D, Park DS. PINK1-mediated phosphorylation of LETM1 regulates mitochondrial calcium transport and protects neurons against mitochondrial stress. Nat Commun 2017;1:1399.
- Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K. Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias. Genes (Basel) 2017;10
- Wagner J, Vulinović F, Grünewald A, Unger MM, Möller JC, Klein C, Michel PP, Ries V, Oertel WH, Alvarez-Fischer D. Acylated and unacylated ghrelin confer neuroprotection to mesencephalic neurons. Neuroscience 2017:137-145.
- Dobričić V, Tomić A, Branković V, Kresojević N, Janković M, Westenberger A, Rašić VM, Klein C, Novaković I, Svetel M, Kostić VS. GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia. Parkinsonism Relat Disord 2017:81-84.
- Lange LM, Tunc S, Tennstedt S, Münchau A, Klein C, Assmann B, Lohmann K. A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia. Mov Disord 2017;10:1495-1497.
- Shamir R, Klein C, Amar D, Vollstedt EJ, Bonin M, Usenovic M, Wong YC, Maver A, Poths S, Safer H, Corvol JC, Lesage S, Lavi O, Deuschl G, Kuhlenbaeumer G, Pawlack H, Ulitsky I, Kasten M, Riess O, Brice A, Peterlin B, Krainc D. Analysis of blood-based gene expression in idiopathic Parkinson disease. Neurology 2017;16:1676-1683.
- Weissbach A, Werner E, Bally JF, Tunc S, Löns S, Timmann D, Zeuner KE, Tadic V, Brüggemann N, Lang A, Klein C, Münchau A, Bäumer T. Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation. Ann Neurol 2017;4:543-553.
- Lill CM, Klein C. What would Dr. James Parkinson think today? The role of genetics in Parkinson's disease. Mov Disord 2017;8:1115-1116.
- Kasten M, Marras C, Klein C. Nonmotor Signs in Genetic Forms of Parkinson's Disease. Int Rev Neurobiol 2017:129-178.
- Zittel S, Alvarez-Fischer D, Schweiger U, Klein C, Münchau A. Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians. Neurology 2017;3:307.
- Weissbach A, König IR, Hückelheim K, Pramstaller PP, Werner E, Brüggemann N, Tadic V, Lohmann K, Bäumer T, Münchau A, Kasten M, Klein C. Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers. Parkinsonism Relat Disord 2017:95-99.
- Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord 2017:118-120.
- Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol 2017;7:806-812.
- Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S. A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1. J Clin Neurol 2017;3:303-305.
- Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism. Cereb Cortex 2017;7:2243-2252.
- Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding. Brain Struct Funct 2017;8:3807-3817.
- Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T. Facial twitches in ADCY5-associated disease – Myokymia or myoclonus? An electromyography study. Parkinsonism Relat Disord 2017:73-75.
- Steinlechner S, Hagenah J, Rumpf HJ, Meyer C, John U, Bäumer T, Brüggemann N, Kasten M, Münchau A, Klein C, Lencer R. Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease. J Neurol 2017;6:1076-1084.
- Tadic V, Klein C, Hinrichs F, Münchau A, Lohmann K, Brüggemann N. CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia. J Neurol 2017;5:1008-1010.
- Simon DK, Wu C, Tilley BC, Lohmann K, Klein C, Payami H, Wills AM, Aminoff MJ, Bainbridge J, Dewey R, Hauser RA, Schaake S, Schneider JS, Sharma S, Singer C, Tanner CM, Truong D, Wei P, Wong PS, Yang T. Caffeine, creatine, GRIN2A and Parkinson's disease progression. J Neurol Sci 2017:355-359.
- Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep 2017;3:26.
- Balck A, Klein C. Reduced penetrance of Leucine-rich repeat kinase 2 mutations: Discovering genetic factors of endogenous disease protection. Mov Disord 2017;4:527.
- Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm (Vienna) 2017;4:417-430.
- Zittel S, Lohmann K, Bauer P, Klein C, Münchau A. Munchausen syndrome by genetics: Next-generation challenges for clinicians. Neurology 2017;10:1000-1001.
- Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Sci Rep 2017:41156.
- Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 2017;2:287-305.
- Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P. Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency. J Cell Biol 2017;3:695-708.
- Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D. Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord 2017:43-49.
- Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. Hum Mol Genet 2017;6:1078-1086.
- Al-Rumayyan A, Klein C, Alfadhel M. Early-Onset Parkinsonism: Case Report and Review of the Literature. Pediatr Neurol 2017:102-106.e1.
- Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. Mov Disord 2017;4:576-584.
- Baumann H, Wolff S, Münchau A, Hagenah JM, Lohmann K, Klein C. Evaluating the role of TMEM230 variants in Parkinson's disease. Parkinsonism Relat Disord 2016:100-101.
- Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. J Pediatr 2016:306-308.e1.
- Fung VS, Chang FC, Westenberger A, Klein C. Reply letter to “ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity”. Mov Disord 2016;2:306.
- Markopoulou K, Chase BA, Robowski P, Strongosky A, Narożańska E, Sitek EJ, Berdynski M, Barcikowska M, Baker MC, Rademakers R, Sławek J, Klein C, Hückelheim K, Kasten M, Wszolek ZK. Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction. PLoS One 2016;11:e0165112.
- Weissbach A, Bäumer T, Pramstaller PP, Brüggemann N, Tadic V, Chen R, Klein C, Münchau A. Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers. Clin Neurophysiol 2016;1:275-280.
- Capetian P, Azmitia L, Pauly MG, Krajka V, Stengel F, Bernhardi EM, Klett M, Meier B, Seibler P, Stanslowsky N, Moser A, Knopp A, Gillessen-Kaesbach G, Nikkhah G, Wegner F, Döbrössy M, Klein C. Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts. Front Cell Neurosci 2016:245.
- Klein C, Löchte T, Delamonte SM, Braenne I, Hicks AA, Zschiedrich-Jansen K, Simon DK, Friedman JH, Lohmann K. PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology. Mov Disord 2016;12:1927-1929.
- Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C, International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”: Necessary evolution, no magic! Mov Disord 2016;11:1760-1762.
- Brüggemann N, Heldmann M, Klein C, Domingo A, Rasche D, Tronnier V, Rosales RL, Jamora RD, Lee LV, Münte TF. Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. Parkinsonism Relat Disord 2016:91-97.
- Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, Klein C, Bertram L. Launching the movement disorders society genetic mutation database (MDSGene). Mov Disord 2016;5:607-609.
- Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS. Phenotypic insights into ADCY5-associated disease. Mov Disord 2016;7:1033-1040.
- Bäumer T, Schmidt A, Heldmann M, Landwehr M, Simmer A, Tönniges D, Münte T, Lohmann K, Altenmüller E, Klein C, Münchau A. Abnormal interhemispheric inhibition in musician's dystonia – Trait or state? Parkinsonism Relat Disord 2016:33-38.
- Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. Cell Mol Life Sci 2016;16:3205-3215.
- Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. The role of mutations in COL6A3 in isolated dystonia. J Neurol 2016;4:730-734.
- Grünewald A, Klein C. Urinary LRRK2 phosphorylation: Penetrating the thicket of Parkinson disease? Neurology 2016;11:984-985.
- Koschmidder E, Weissbach A, Brüggemann N, Kasten M, Klein C, Lohmann K. A nonsense mutation in CHCHD2 in a patient with Parkinson disease. Neurology 2016;6:577-579.
- Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. RAB39B mutations are a rare finding in Parkinson disease patients. Parkinsonism Relat Disord 2016:116-117.
- Norris SA, Jinnah HA, Espay AJ, Klein C, Brüggemann N, Barbano RL, Malaty IA, Rodriguez RL, Vidailhet M, Roze E, Reich SG, Berman BD, LeDoux MS, Richardson SP, Agarwal P, Mari Z, Ondo WG, Shih LC, Fox SH, Berardelli A, Testa CM, Cheng FC, Truong D, Nahab FB, Xie T, Hallett M, Rosen AR, Wright LJ, Perlmutter JS. Clinical and demographic characteristics related to onset site and spread of cervical dystonia. Mov Disord 2016;12:1874-1882.
- Zeuner KE, Knutzen A, Granert O, Sablowsky S, Götz J, Wolff S, Jansen O, Dressler D, Schneider SA, Klein C, Deuschl G, van Eimeren T, Witt K. Altered brain activation in a reversal learning task unmasks adaptive changes in cognitive control in writer's cramp. Neuroimage Clin 2015:63-70.
- Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;Pt 12:3476-3495.
- Kumar KR, Vulinovic F, Lohmann K, Park JS, Schaake S, Sue CM, Klein C. Mutations in TUBB4A and spastic paraplegia. Mov Disord 2015;13:1857-1858.
- Steinlechner S, Wenzel L, Kasten M, Tadic V, Brüggemann N, Hagenah J, Rumpf HJ, Klein C, Lencer R. [Evaluation of Psychiatric Disorders on the Basis of a SCID Screening]. Fortschritte Der Neurologie-psychiatrie 2015;9:499-505.
- Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M, GEO-PD Consortium. Large-scale assessment of polyglutamine repeat expansions in Parkinson disease. Neurology 2015;15:1283-1292.
- Kritzinger C, Vollstedt EJ, Hückelheim K, Lorwin A, Graf J, Tunc S, Klein C, Kasten M. Qualitative Characteristics of Depression in Parkinson's Patients and Controls. Behav Neurol 2015:961372.
- Weissbach A, Bäumer T, Brüggemann N, Tadic V, Zittel S, Cheng B, Thomalla G, Klein C, Münchau A. Premotor-motor excitability is altered in dopa-responsive dystonia. Mov Disord 2015;12:1705-1709.
- Westenberger A, Klein C. A new gene for primary familial brain calcification: The importance of phosphate homeostasis. Mov Disord 2015;9:1213.
- Schmitt I, Kaut O, Khazneh H, deBoni L, Ahmad A, Berg D, Klein C, Fröhlich H, Wüllner U. L-dopa increases α-synuclein DNA methylation in Parkinson's disease patients in vivo and in vitro. Mov Disord 2015;13:1794-1801.
- Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, Wood NW. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet 2015;18:5326-5329.
- Erro R, Klein C. DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia. Mov Disord 2015;13:1725.
- Morrison M, Klein C, Clemann N, Collier DA, Hardy J, Heisserer B, Cader MZ, Graf M, Kaye J. StemBANCC: Governing Access to Material and Data in a Large Stem Cell Research Consortium. Stem Cell Rev Rep 2015;5:681-687.
- Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet 2015;6:938-947.
- Kresojević N, Janković M, Petrović I, Kumar KR, Dragašević N, Dobričić V, Novaković I, Svetel M, Klein C, Pekmezović T, Kostić VS. Presenting symptoms of GBA-related Parkinson's disease. Parkinsonism Relat Disord 2015;7:804-807.
- Freundlieb N, Backhaus W, Brüggemann N, Gerloff C, Klein C, Pinnschmidt HO, Hummel FC. Differential effects of BDNF val(66)met in repetitive associative learning paradigms. Neurobiol Learn Mem 2015:11-17.
- Weissbach A, Bäumer T, Rosales R, Lee LV, Brüggemann N, Domingo A, Westenberger A, Jamora RD, Diesta CC, Brandt V, Tadic V, Zittel S, Klein C, Münchau A. Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. Mov Disord 2015;6:873-875.
- Kasten M, Klein C. Genetic risk loci for Parkinson's disease: Moving from state to trait? Mov Disord 2015;6:747-749.
- Rakovic A, Seibler P, Klein C. iPS models of Parkin and PINK1. Biochem Soc Trans 2015;2:302-307.
- Vos M, Verstreken P, Klein C. Stimulation of electron transport as potential novel therapy in Parkinson's disease with mitochondrial dysfunction. Biochem Soc Trans 2015;2:275-279.
- Sixel-Döring F, Lohmann K, Klein C, Trenkwalder C, Mollenhauer B. REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations. Mov Disord 2015;4:597-598.
- Bertram L, Klein C. Probing the exome in Alzheimer disease and other neurodegenerative disorders. JAMA Neurol 2015;4:389-391.
- Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wächter T, Deuschl G, Krüger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology 2015;9:895-903.
- Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur J Hum Genet 2015;10:1334-1340.
- Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet 2015;2:245-257.
- Marz M, Ferracin M, Klein C. MicroRNAs as biomarker of Parkinson disease? Small but mighty. Neurology 2015;7:636-638.
- McCann H, Fung VS, Klein C, Halliday GM. Unusual α-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation. Neuropathol Appl Neurobiol 2015;6:837-842.
- Munsie LN, Milnerwood AJ, Seibler P, Beccano-Kelly DA, Tatarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ. Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N. Human Molecular Genetics 2015;6:1691-1703.
- Tunc S, Graf J, Tadic V, Brüggemann N, Schmidt A, Al-Khaled M, Wolff S, Vollstedt EJ, Lorwin A, Hampf J, Piskol L, Klein C, Hagenah J, Kasten M. A population-based study on combined markers for early Parkinson's disease. Mov Disord 2014;4:531-537.
- Nürnberger L, Klein C, Baudrexel S, Roggendorf J, Hildner M, Chen S, Kang JS, Hilker R, Hagenah J. Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers. Mov Disord 2014;3:386-392.
- von Otter M, Bergström P, Quattrone A, De Marco EV, Annesi G, Söderkvist P, Wettinger SB, Drozdzik M, Bialecka M, Nissbrandt H, Klein C, Nilsson M, Hammarsten O, Nilsson S, Zetterberg H. Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease – a multicenter study. BMC Med Genet 2014:131.
- Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C. Novel GNAL mutations in two German patients with sporadic dystonia. Mov Disord 2014;14:1833-1834.
- Huttenlocher J, Krüger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P. EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. J Med Genet 2014;1:37-41.
- Ebrahimi-Fakhari D, Kang KS, Kotzaeridou U, Kohlhase J, Klein C, Assmann BE. Child Neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology 2014;18:1680-1683.
- Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C, GEO-PD Consortium. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 2014;21:1906-1913.
- Domingo A, Schmidt TG, Barcelon E, Lukban M, Westenberger A, Klein C. X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. J Neurol 2014;11:2225-2227.
- Weissbach A, Klein C. Hereditary dystonia and parkinsonism: two sides of the same coin? Brain 2014;Pt 9:2402-2404.
- Capetian P, Pauly MG, Azmitia LM, Klein C. Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models. Front Cell Neurosci 2014:205.
- Lohmann K, Klein C. Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 2014;4:699-707.
- Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RD, Rosales RL, Klein C, Westenberger A. Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women? JAMA Neurol 2014;9:1177-1180.
- Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P. Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. Hum Mutat 2014;9:1114-1122.
- Deuse T, Hua X, Wang D, Maegdefessel L, Heeren J, Scheja L, Bolaños JP, Rakovic A, Spin JM, Stubbendorff M, Ikeno F, Länger F, Zeller T, Schulte-Uentrop L, Stoehr A, Itagaki R, Haddad F, Eschenhagen T, Blankenberg S, Kiefmann R, Reichenspurner H, Velden J, Klein C, Yeung A, Robbins RC, Tsao PS, Schrepfer S. Dichloroacetate prevents restenosis in preclinical animal models of vessel injury. Nature 2014;7502:641-644.
- Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, Ralić V, Petrović I, Lukić MJ, Lohmann K, Novaković I, Klein C, Kostić VS. De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. Mov Disord 2014;9:1190-1193.
- Seibler P, Klein C. Stimulus-triggered acquisition of pluripotency: revolutionizing human disease modeling and regenerative therapies? Mov Disord 2014;4:451.
- Morais VA, Haddad D, Craessaerts K, De Bock PJ, Swerts J, Vilain S, Aerts L, Overbergh L, Grünewald A, Seibler P, Klein C, Gevaert K, Verstreken P, De Strooper B. PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. Science 2014;6180:203-207.
- Winkler S, Vollstedt EJ, Kasten M, Alvarez-Fischer D, Klein C, Lohmann K. The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease. J Neurol 2014;4:833-834.
- Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Reply: dystonia after severe head injuries. Mov Disord 2014;4:578-579.
- Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014;4:490-494.
- Brüggemann N, Stiller S, Tadic V, Kasten M, Münchau A, Graf J, Klein C, Hagenah J. Non-motor phenotype of dopa-responsive dystonia and quality of life assessment. Parkinsonism Relat Disord 2014;4:428-431.
- Koschmidder E, Mollenhauer B, Kasten M, Klein C, Lohmann K. Mutations in VPS26A are not a frequent cause of Parkinson's disease. Neurobiol Aging 2014;6:1512.e1-2.
- Lohmann K, Klein C. The many faces of TUBB4A mutations. Neurogenetics 2014;2:81-82.
- Westenberger A, Klein C. The genetics of primary familial brain calcifications. Curr Neurol Neurosci Rep 2014;10:490.
- Grünewald A, Arns B, Meier B, Brockmann K, Tadic V, Klein C. Does uncoupling protein 2 expression qualify as marker of disease status in LRRK2-associated Parkinson's disease? Antioxid Redox Signal 2013;13:1955-1960.
- Zanon A, Rakovic A, Blankenburg H, Doncheva NT, Schwienbacher C, Serafin A, Alexa A, Weichenberger CX, Albrecht M, Klein C, Hicks AA, Pramstaller PP, Domingues FS, Pichler I. Profiling of Parkin-binding partners using tandem affinity purification. PLoS One 2013;11:e78648.
- Schmidt A, Jabusch HC, Altenmüller E, Kasten M, Klein C. Challenges of making music: what causes musician's dystonia? JAMA Neurol 2013;11:1456-1459.
- Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 2013;1:207-212.
- Morgante F, Klein C. Dystonia. Continuum (Minneap Minn) 2013;5 Movement Disorders:1225-1241.
- Trilck M, Hübner R, Seibler P, Klein C, Rolfs A, Frech MJ. Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks. Orphanet J Rare Dis 2013:144.
- Mollenhauer B, Trautmann E, Sixel-Döring F, Wicke T, Ebentheuer J, Schaumburg M, Lang E, Focke NK, Kumar KR, Lohmann K, Klein C, Schlossmacher MG, Kohnen R, Friede T, Trenkwalder C, DeNoPa Study Group. Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort. Neurology 2013;14:1226-1234.
- Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging 2013;1:266.e5-14.
- Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA, Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord 2013;12:1740-1744.
- Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013;9:1077-1082.
- Lohmann K, Klein C. Genetics of dystonia: what's known? What's new? What's next? Mov Disord 2013;7:899-905.
- Klein C, Fahn S. Translation of Oppenheim's 1911 paper on dystonia. Mov Disord 2013;7:851-862.
- Kasten M, Grünewald A, Klein C. Next-generation phenotyping and genomic incidental findings–reply. JAMA Neurol 2013;12:1590-1591.
- Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 2013;11:2694.e19-20.
- Kasten M, Heinzow B, Vieregge P, Klein C. Reply to: “polychlorinated biphenyls in prospectively collected serum and Parkinson's disease risk”. Mov Disord 2013;9:1317.
- Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grünewald A, Gölnitz U, Saviouk V, Rolfs A, Klein C, Sue CM. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol 2013;10:2516-2522.
- Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol 2013;6:783-787.
- Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;7:863-873.
- Alvarez-Fischer D, Noelker C, Vulinović F, Grünewald A, Chevarin C, Klein C, Oertel WH, Hirsch EC, Michel PP, Hartmann A. Bee venom and its component apamin as neuroprotective agents in a Parkinson disease mouse model. PLoS One 2013;4:e61700.
- Klein C, Münchau A. Progressive dystonia. Handb Clin Neurol 2013:1889-1897.
- Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013;4:537-545.
- Klein C, Krainc D. Glucocerebrosidase mutations: tipping point toward Parkinson disease and dementia? JAMA Neurol 2013;6:686-688.
- Dehay B, Martinez-Vicente M, Caldwell GA, Caldwell KA, Yue Z, Cookson MR, Klein C, Vila M, Bezard E. Lysosomal impairment in Parkinson's disease. Mov Disord 2013;6:725-732.
- Mastroeni C, Bergmann TO, Rizzo V, Ritter C, Klein C, Pohlmann I, Brueggemann N, Quartarone A, Siebner HR. Brain-derived neurotrophic factor–a major player in stimulation-induced homeostatic metaplasticity of human motor cortex? PLoS One 2013;2:e57957.
- Agosta F, Kostic VS, Davidovic K, Kresojević N, Sarro L, Svetel M, Stanković I, Comi G, Klein C, Filippi M. White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations. Mov Disord 2013;6:772-778.
- Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC, French Parkinson's Disease Genetics Study Group., International Parkinson's Disease Genomics Consortium (IPDGC). The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry 2013;6:666-673.
- Appenzeller S, Schulte C, Thier S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbäumer G. No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease. Mov Disord 2013;9:1305-1306.
- Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov Disord 2013;5:675-678.
- Kresojević N, Mijajlović M, Perić S, Pavlović A, Svetel M, Janković M, Dobričić V, Novaković I, Lakočević MB, Klein C, Kostić VS. Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations. Parkinsonism Relat Disord 2013;4:431-435.
- Weissbach A, Kasten M, Grünewald A, Brüggemann N, Trillenberg P, Klein C, Hagenah J. Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia. Parkinsonism Relat Disord 2013;4:422-425.
- Appenzeller S, Thier S, Papengut F, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Schreiber S, Deuschl G, Kuhlenbäumer G. No association between NOD2 variants and Parkinson's disease. Mov Disord 2013;9:1191-1192.
- Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med 2013;1:a008888.
- Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C. Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? Mov Disord 2013;7:921-927.
- Kasten M, Hagenah J, Graf J, Lorwin A, Vollstedt EJ, Peters E, Katalinic A, Raspe H, Klein C. Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK). Int J Epidemiol 2012;1:128-128k.
- Hilker R, Pilatus U, Eggers C, Hagenah J, Roggendorf J, Baudrexel S, Klein JC, Neumaier B, Fink GR, Steinmetz H, Klein C, Hattingen E. The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations. PLoS One 2012;12:e51308.
- Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C. Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. J Biol Chem 2012;4:2223-2237.
- Freundlieb N, Philipp S, Schneider SA, Brüggemann N, Klein C, Gerloff C, Hummel FC. No association of the BDNF val66met polymorphism with implicit associative vocabulary and motor learning. PLoS One 2012;11:e48327.
- Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K. Exome sequencing in a family with restless legs syndrome. Mov Disord 2012;13:1686-1689.
- Schneider SA, Drude L, Kasten M, Klein C, Hagenah J. A study of subtle motor signs in early Parkinson's disease. Mov Disord 2012;12:1563-1566.
- Lohmann K, Klein C. Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. Mov Disord 2012;8:963.
- Tadic V, Kasten M, Brüggemann N, Stiller S, Hagenah J, Klein C. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol 2012;12:1558-1562.
- Dehay B, Martinez-Vicente M, Ramirez A, Perier C, Klein C, Vila M, Bezard E. Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove. Autophagy 2012;9:1389-1391.
- Göbel A, Macklin EA, Winkler S, Betensky RA, Klein C, Lohmann K, Simon DK. Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes. J Neurol 2012;11:2503-2505.
- Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Frequency of the D620N mutation in VPS35 in Parkinson disease. Arch Neurol 2012;10:1360-1364.
- Schmidt A, Kumar KR, Redyk K, Grünewald A, Leben M, Münchau A, Sue CM, Hagenah J, Hartmann H, Lohmann K, Christen HJ, Klein C. Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. Arch Neurol 2012;5:668-670.
- Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA. Phenotypes and genetic architecture of focal primary torsion dystonia. J Neurol Neurosurg Psychiatry 2012;10:1006-1011.
- Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med 2012;141:141ra90.
- Kumar KR, Klein C. Commentary for “Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy”. Mov Disord 2012;7:E1-2.
- Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 2012;7:797-802.
- Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc Natl Acad Sci U S A 2012;24:9611-9616.
- Schmitt I, Wüllner U, van Rooyen JP, Khazneh H, Becker J, Volk A, Kubisch C, Becker T, Kostic VS, Klein C, Ramirez A. Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression. Eur J Hum Genet 2012;12:1265-1269.
- Kasten M, Kertelge L, Tadic V, Brüggemann N, Schmidt A, van der Vegt J, Siebner H, Buhmann C, Lencer R, Kumar KR, Lohmann K, Hagenah J, Klein C. Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease. Mov Disord 2012;6:754-759.
- Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. Arch Neurol 2012;8:1071-1075.
- Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology 2012;13:1016-1024.
- Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP, 23andMe Genetic Epidemiology of Parkinson's Disease Consortium., International Parkinson's Disease Genomics Consortium., Parkinson's Disease GWAS Consortium., Wellcome Trust Case Control Consortium 2)., Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet 2012;3:e1002548.
- Anders S, Sack B, Pohl A, Münte T, Pramstaller P, Klein C, Binkofski F. Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele. Brain 2012;Pt 4:1128-1140.
- Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet 2012;2:301-307.
- Grünewald A, Arns B, Seibler P, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. Neurobiol Aging 2012;8:1843.e1-7.
- Schneider SA, Schneider UH, Klein C. Genetic testing for neurologic disorders. Semin Neurol 2012;5:542-552.
- Klein C. Next-generation neurogenetics: the future has begun. Semin Neurol 2012;5:431-432.
- Richter J, Appenzeller S, Ammerpohl O, Deuschl G, Paschen S, Brüggemann N, Klein C, Kuhlenbäumer G. No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients. Mov Disord 2012;4:590-591.
- Schmidt A, Altenmüller E, Jabusch HC, Lee A, Wiegers K, Klein C, Lohmann K. The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia. Parkinsonism Relat Disord 2012;5:690-691.
- van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011;6:964-973.
- Klein C, Krainc D. Movement disorders in 2011: Translating new research findings into clinical practice. Nat Rev Neurol 2011;2:65-66.
- Klein C. The Wilson films–Huntington's chorea. Movement Disorders : official Journal of The Movement Disorder Society 2011;14:2464-2466.
- Abramov AY, Gegg M, Grunewald A, Wood NW, Klein C, Schapira AH. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS One 2011;10:e25622.
- Djarmati-Westenberger A, Brüggemann N, Espay AJ, Bhatia KP, Klein C. A novel DCC mutation and genetic heterogeneity in congenital mirror movements. Neurology 2011;16:1580.
- Wilcox RA, Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. Mov Disord 2011;13:2404-2408.
- Heinitz S, Klein C, Djarmati A. The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease. Mov Disord 2011;13:2441-2442.
- Arif B, Grünewald A, Fatima A, Ramirez A, Ali A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Malik A, Klein C, Naz S. An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech. Mov Disord 2011;12:2279-2283.
- Zittel S, Bäumer T, Brüggemann N, Gerloff C, Klein C, Münchau A. Paroxysmal cervical myoclonus. Mov Disord 2011;13:2445-2446.
- Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011;10:898-908.
- Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 2011;2:171-175.
- Palada V, Terzić J, Mazzulli J, Bwala G, Hagenah J, Peterlin B, Hung AY, Klein C, Krainc D. Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease. Neurobiol Aging 2011;4:836.e1-3.
- Klein C, Hagenah J, Landwehrmeyer B, Münte T, Klockgether T. [The presymptomatic stage of neurodegenerative disorders]. Der Nervenarzt 2011;8:994-1001.
- Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destée A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, De Nigris F, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R, Genetic Epidemiology of Parkinson's Disease Consortium. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiol Aging 2011;11:2108.e1-5.
- Marras C, Schüle B, Munhoz RP, Rogaeva E, Langston JW, Kasten M, Meaney C, Klein C, Wadia PM, Lim SY, Chuang RS, Zadikof C, Steeves T, Prakash KM, de Bie RM, Adeli G, Thomsen T, Johansen KK, Teive HA, Asante A, Reginold W, Lang AE. Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology 2011;4:325-333.
- Nery FC, Armata IA, Farley JE, Cho JA, Yaqub U, Chen P, da Hora CC, Wang Q, Tagaya M, Klein C, Tannous B, Caldwell KA, Caldwell GA, Lencer WI, Ye Y, Breakefield XO. TorsinA participates in endoplasmic reticulum-associated degradation. Nat Commun 2011:393.
- Klein C, Chuang R, Marras C, Lang AE. The curious case of phenocopies in families with genetic Parkinson's disease. Mov Disord 2011;10:1793-1802.
- Schiebler S, Schmidt A, Zittel S, Bäumer T, Gerloff C, Klein C, Münchau A. Arm tremor in cervical dystonia–is it a manifestation of dystonia or essential tremor? Mov Disord 2011;10:1789-1792.
- Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, Pahnke J, Gasser T, Volkmann J, Münchau A, Hagenah J, Benecke R, Klein C, Lohmann K. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. Mov Disord 2011;11:2136-2137.
- López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R. Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. J Neurol 2011;12:2155-2162.
- Seibler P, Graziotto J, Jeong H, Simunovic F, Klein C, Krainc D. Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells. J Neurosci 2011;16:5970-5976.
- Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodríguez C, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G, Klein C, Lohmann K, Kaiser FJ. Truncating mutations in THAP1 define the nuclear localization signal. Mov Disord 2011;8:1565-1567.
- Schneider SA, Klein C. What is the role of genetic testing in movement disorders practice? Curr Neurol Neurosci Rep 2011;4:351-361.
- Rakovic A, Grünewald A, Voges L, Hofmann S, Orolicki S, Lohmann K, Klein C. PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1. Parkinsons Dis 2011:153979.
- Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord 2011;5:858-861.
- Kostić VS, Lukić-Ječmenica M, Novaković I, Dobričić V, Brajković L, Krajinović M, Klein C, Pavlović A. Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification. J Neurol 2011;9:1637-1642.
- Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C. Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. PLoS One 2011;3:e16746.
- Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ, Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 2011;5:778-792.
- Enders L, Spector JT, Altenmüller E, Schmidt A, Klein C, Jabusch HC. Musician's dystonia and comorbid anxiety: two sides of one coin? Mov Disord 2011;3:539-542.
- Klein C, Krainc D, Schlossmacher MG, Lang AE. Translational research in neurology and neuroscience 2011: movement disorders. Arch Neurol 2011;6:709-716.
- Fong CY, Rolfs A, Schwarzbraun T, Klein C, O'Callaghan FJ. Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation. Eur J Paediatr Neurol 2011;3:271-275.
- Reetz K, Kleiman A, Klein C, Lencer R, Zuehlke C, Brockmann K, Rolfs A, Binkofski F. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. PLoS One 2011;1:e15125.
- Klein C, Ziegler A. From GWAS to clinical utility in Parkinson's disease. Lancet 2011;9766:613-614.
- Brüggemann N, Wuerfel J, Petersen D, Klein C, Hagenah J, Schneider SA. Idiopathic NBIA–clinical spectrum and transcranial sonography findings. European Journal of Neurology 2011;6:e58-59.
- Klein C, Djarmati A. Parkinson disease: genetic testing in Parkinson disease-who should be assessed? Nat Rev Neurol 2011;1:7-9.
- Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R. Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Mov Disord 2011;5:885-888.
- Schmidt A, Jabusch HC, Altenmüller E, Enders L, Saunders-Pullman R, Bressman SB, Münchau A, Klein C, Hagenah J. Phenotypic spectrum of musician's dystonia: a task-specific disorder? Mov Disord 2011;3:546-549.
- Kasten M, Brüggemann N, König IR, Doerry K, Steinlechner S, Wenzel L, Lohmann K, Klein C, Lencer R. Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility. Psychopharmacology (Berl) 2010;3:729-736.
- Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, Eckerle S, Bähre M, Münchau A, Djarmati A, van der Vegt J, Siebner H, Binkofski F, Ramirez A, Behrens MI, Klein C. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol 2010;11:1357-1363.
- Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clinical Genetics 2010;6:594-597.
- Hagenah J, König IR, Kötter C, Seidel G, Klein C, Brüggemann N. Basal ganglia hyperechogenicity does not distinguish between patients with primary dystonia and healthy individuals. J Neurol 2010;4:590-595.
- Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;4:554-559.
- Ramirez A, Ziegler A, Winkler S, Kottwitz J, Giesen R, Díaz-Grez F, Miranda M, Venegas P, Godoy OT, Avello R, Behrens MI, Klein C, Segura-Aguilar J, Lohmann K. Association of Parkinson disease to PARK16 in a Chilean sample. Parkinsonism Relat Disord 2010;1:70-71.
- Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AH, Pramstaller PP, Sue CM, Klein C. Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS One 2010;9:e12962.
- Machner B, Sprenger A, Behrens MI, Ramirez A, Brüggemann N, Klein C, Helmchen C. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord 2010;15:2687-2689.
- Steinlechner S, Brüggemann N, Sobottka V, Benthien A, Behn B, Klein C, Schmid G, Lencer R. Restless legs syndrome as a possible predictor for psychiatric disorders in parents of children with ADHD. Eur Arch Psychiatry Clin Neurosci 2010;4:285-291.
- Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord 2010;1:157-161.
- Brüggemann N, Schneider SA, Sander T, Klein C, Hagenah J. Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification. Mov Disord 2010;15:2661-2664.
- Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, Drude L, van der Vegt J, Siebner H, Pawlack H, Pramstaller PP, Behrens MI, Ramirez A, Reichel D, Buhmann C, Hagenah J, Klein C, Lohmann K, Kasten M. Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Mov Disord 2010;15:2665-2669.
- Zittel S, Moll CK, Brüggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schönweiler R, Hagenah J, Klein C, Münchau A, Schneider SA. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010;14:2405-2412.
- Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010;12:1929-1937.
- Kasten M, Bruggemann N, Schmidt A, Klein C. Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease. Neurology 2010;5:478; author reply 478-9.
- Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S. Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord 2010;10:1364-1372.
- Machner B, Klein C, Sprenger A, Baumbach P, Pramstaller PP, Helmchen C, Heide W. Eye movement disorders are different in Parkin-linked and idiopathic early-onset PD. Neurology 2010;2:125-128.
- Gruber D, Kühn AA, Schoenecker T, Kivi A, Trottenberg T, Hoffmann KT, Gharabaghi A, Kopp UA, Schneider GH, Klein C, Asmus F, Kupsch A. Pallidal and thalamic deep brain stimulation in myoclonus-dystonia. Mov Disord 2010;11:1733-1743.
- Weissbach A, Djarmati A, Klein C, Dragasević N, Zühlke C, Raković A, Guzvić M, Butz E, Tönnies H, Siebert R, Petrović I, Svetel M, Kostić VS, Lohmann K. Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15. Mov Disord 2010;11:1577-1582.
- Facheris MF, Hicks AA, Minelli C, Hagenah JM, Kostic V, Campbell S, Hayward C, Volpato CB, Pattaro C, Vitart V, Wright A, Campbell H, Klein C, Pramstaller PP. Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease. J Mol Neurosci 2010;3:246-250.
- Kägi G, Klein C, Wood NW, Schneider SA, Pramstaller PP, Tadic V, Quinn NP, van de Warrenburg BP, Bhatia KP. Nonmotor symptoms in Parkin gene-related parkinsonism. Mov Disord 2010;9:1279-1284.
- Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Hum Mol Genet 2010;16:3124-3137.
- Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiol Dis 2010;3:402-408.
- Kasten M, Tadic V, Klein C, Rocca WA, Savica R, Eric Ahlskog J, Grossardt BR. Anemia or low hemoglobin levels preceding Parkinson disease: a case-control study. Neurology 2010;20:1655; author reply 1655-6.
- Klebe S, Thier S, Lorenz D, Nothnagel M, Schreiber S, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Deuschl G, Kuhlenbäumer G. LINGO1 is not associated with Parkinson's disease in German patients. Am J Med Genet B Neuropsychiatr Genet 2010;6:1173-1178.
- van Eimeren T, Binkofski F, Buhmann C, Hagenah J, Strafella AP, Pramstaller PP, Siebner HR, Klein C. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease. Parkinsonism Relat Disord 2010;6:384-387.
- Schneider SA, Klein C, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. PINK1 Type of Young-Onset Parkinson Disease. 2010;in press.
- Brüggemann N, Klein C, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. Parkin Type of Early-Onset Parkinson Disease. 2010;in press.
- Klein C, Lohmann K, Marras C, Münchau A, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. Hereditary Dystonia Overview. 2010;in press.
- Hagenah J, König IR, Sperner J, Wessel L, Seidel G, Condefer K, Saunders-Pullman R, Klein C, Brüggemann N. Life-long increase of substantia nigra hyperechogenicity in transcranial sonography. Neuroimage 2010;1:28-32.
- Stanley K, Hagenah J, Brüggemann N, Reetz K, Severt L, Klein C, Yu Q, Derby C, Pullman S, Saunders-Pullman R. Digitized spiral analysis is a promising early motor marker for Parkinson Disease. Parkinsonism Relat Disord 2010;3:233-234.
- Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiology of Disease 2010;2:192-200.
- Krüger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Genetic Epidemiology of Parkinson's disease consortium. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 2009;3:548.e9-18.
- Reetz K, Lencer R, Hagenah JM, Gaser C, Tadic V, Walter U, Wolters A, Steinlechner S, Zühlke C, Brockmann K, Klein C, Rolfs A, Binkofski F. Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum 2009;2:210-217.
- Spuler S, Krug H, Klein C, Medialdea IC, Jakob W, Ebersbach G, Gruber D, Hoffmann KT, Trottenberg T, Kupsch A. Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach. Mov Disord 2009;5:552-559.
- Svetel M, Ozelius LJ, Buckley A, Lohmann K, Brajković L, Klein C, Kostić VS. Rapid-onset dystonia-parkinsonism: case report. J Neurol 2009;3:472-474.
- van Nuenen BF, van Eimeren T, van der Vegt JP, Buhmann C, Klein C, Bloem BR, Siebner HR. Mapping preclinical compensation in Parkinson's disease: an imaging genomics approach. Mov Disord 2009:S703-10.
- Verleger R, Hagenah J, Weiss M, Ewers T, Heberlein I, Pramstaller PP, Siebner HR, Klein C. Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers. Neuropsychologia 2009;2:467-476.
- Klein C, Schneider SA, Lang AE. Hereditary parkinsonism: Parkinson disease look-alikes–an algorithm for clinicians to “PARK” genes and beyond. Mov Disord 2009;14:2042-2058.
- Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009;14:2104-2111.
- Netzer C, Klein C, Kohlhase J, Kubisch C. New challenges for informed consent through whole genome array testing. Journal of Medical Genetics 2009;7:495-496.
- Pichler I, Marroni F, Pattaro C, Lohmann K, de Grandi A, Klein C, Hicks AA, Pramstaller PP. Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). Am J Med Genet B Neuropsychiatr Genet 2009;1:350-355.
- Lencer R, Steinlechner S, Stahlberg J, Rehling H, Orth M, Baeumer T, Rumpf HJ, Meyer C, Klein C, Muenchau A, Hagenah J. Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles. Journal of Neurology, Neurosurgery, And Psychiatry 2009;10:1176-1179.
- Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology 2009;16:1441-1443.
- Paus S, Gadow F, Knapp M, Klein C, Klockgether T, Wüllner U. Motor complications in patients form the German Competence Network on Parkinson's disease and the DRD3 Ser9Gly polymorphism. Mov Disord 2009;7:1080-1084.
- Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009;5:447-452.
- Hertel S, Sprenger A, Klein C, Kömpf D, Helmchen C, Kimmig H. Different saccadic abnormalities in PINK1 mutation carriers and in patients with non-genetic Parkinson's disease. J Neurol 2009;7:1192-1194.
- Zschiedrich K, König IR, Brüggemann N, Kock N, Kasten M, Leenders KL, Kostić V, Vieregge P, Ziegler A, Klein C, Lohmann K. MDR1 variants and risk of Parkinson disease. Association with pesticide exposure? J Neurol 2009;1:115-120.
- Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 2009;6:425-429.
- van Nuenen BF, Weiss MM, Bloem BR, Reetz K, van Eimeren T, Lohmann K, Hagenah J, Pramstaller PP, Binkofski F, Klein C, Siebner HR. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology 2009;12:1041-1047.
- Kahl KG, Hagenah J, Zapf S, Trillenberg P, Klein C, Lencer R. Botulinum toxin as an effective treatment of clozapine-induced hypersalivation. Psychopharmacology (Berl) 2009;1-2:229-230.
- Reetz K, Siebner HR, Gaser C, Hagenah J, Buechel C, Kasten M, Petersen D, Pramstaller PP, Klein C, Binkofksi F. Premotor Gray Matter Volume is Associated with Clinical Findings in Idiopathic and Genetically Determined Parkinson's Disease. The Open Neuroimaging Journal 2008:102-105.
- Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. Mov Disord 2008;3:429-433.
- Klein C, Lohmann K. Parkinson disease(s): is “Parkin disease” a distinct clinical entity? Neurology 2008;2:106-107.
- Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med 2008:32.
- Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008;10:1380-1385.
- Reetz K, Gaser C, Klein C, Hagenah J, Büchel C, Gottschalk S, Pramstaller PP, Siebner HR, Binkofski F. Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease. Mov Disord 2008;1:99-103.
- McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord 2008;11:1596-1601.
- Marras C, Klein C, Lang AE, Wakutani Y, Moreno D, Sato C, Yip E, Munhoz RP, Lohmann K, Djarmati A, Bi A, Rogaeva E. LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation. Neurobiol Aging 2008;4:721-722.
- DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet 2008;1:95-99.
- Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW, International LRRK2 Consortium. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008;7:583-590.
- Kamm C, Fischer H, Garavaglia B, Kullmann S, Sharma M, Schrader C, Grundmann K, Klein C, Borggraefe I, Lobsien E, Kupsch A, Nardocci N, Gasser T. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008;23:2261-2262.
- Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology 2008;1:28-34.
- Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch HC, Altenmüller E, Münchau A, Lohmann K, Klein C. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008;5:380-381.
- Klein C, Ziegler A. How to predict the risk of Parkinson disease in relatives of parkin mutation carriers: a complex puzzle of age, penetrance, and number of mutated alleles. Arch Neurol 2008;4:443-444.
- Muhle H, Neumann A, Lohmann-Hedrich K, Lohnau T, Lu Y, Winkler S, Waltz S, Fischenbeck A, Kramer PL, Klein C, Stephani U. Childhood-onset restless legs syndrome: clinical and genetic features of 22 families. Mov Disord 2008;8:1113-21; quiz 1203.
- Facheris MF, Maniak S, Scaravilli F, Schüle B, Klein C, Pramstaller PP. Pure akinesia as initial presentation of PSP: a clinicopathological study. Parkinsonism Relat Disord 2008;6:517-519.
- Reetz K, Lencer R, Steinlechner S, Gaser C, Hagenah J, Büchel C, Petersen D, Kock N, Djarmati A, Siebner HR, Klein C, Binkofski F. Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers. Biol Psychiatry 2008;3:241-247.
- Klein C. DYT16: a new twist to familial dystonia. Lancet Neurol 2008;3:192-193.
- Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. Mov Disord 2008;4:588-592.
- Paus S, Grünewald A, Klein C, Knapp M, Zimprich A, Janetzky B, Möller JC, Klockgether T, Wüllner U. The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease. Mov Disord 2008;4:599-602.
- Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C. Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? Neurology 2008;9:686-694.
- Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S. MECP2 mutations in Serbian Rett syndrome patients. Acta Neurologica Scandinavica 2007;6:413-419.
- Hagenah JM, König IR, Becker B, Hilker R, Kasten M, Hedrich K, Pramstaller PP, Klein C, Seidel G. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. Journal of Neurology 2007;10:1407-1413.
- Natasa Cerovac., Petrović I, Klein C, Kostić VS. Delayed-onset dystonia due to perinatal asphyxia: a prospective study. Mov Disord 2007;16:2426-2429.
- Klein C, Schlossmacher MG. Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder. Neurology 2007;22:2093-2104.
- Orth M, Djarmati A, Bäumer T, Winkler S, Grünewald A, Lohmann-Hedrich K, Kabakci K, Hagenah J, Klein C, Münchau A. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. Mov Disord 2007;14:2090-2096.
- Djarmati A, Guzvić M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AO, Beetz C, Hedrich K, Klein C. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 2007;12:1708-1714.
- Winkler S, König IR, Lohmann-Hedrich K, Vieregge P, Kostic V, Klein C. Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease. Eur J Hum Genet 2007;11:1163-1168.
- Klein C, Lohmann-Hedrich K. Impact of recent genetic findings in Parkinson's disease. Curr Opin Neurol 2007;4:453-464.
- Klein C, Bonifati V. Dissecting the complexity of frontotemporal dementia: genotypes, phenotypes, and phenocopies. Neurology 2007;2:129-130.
- Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;7:652-662.
- Hagenah J, Reetz K, Zühlke C, Rolfs A, Binkofski F, Klein C. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology 2007;24:2157; author reply 2157-2158.
- Winkelmann J, Polo O, Provini F, Nevsimalova S, Kemlink D, Sonka K, Högl B, Poewe W, Stiasny-Kolster K, Oertel W, de Weerd A, Strambi LF, Zucconi M, Pramstaller PP, Arnulf I, Trenkwalder C, Klein C, Hadjigeorgiou GM, Happe S, Rye D, Montagna P. Genetics of restless legs syndrome (RLS): State-of-the-art and future directions. Mov Disord 2007:S449-58.
- Trenkwalder C, Kohnen R, Allen RP, Benes H, Ferini-Strambi L, Garcia-Borreguero D, Hadjigeorgiou GM, Happe S, Högl B, Hornyak M, Klein C, Nass A, Montagna P, Oertel WH, O'Keeffe S, Paulus W, Poewe W, Provini F, Pramstaller PP, Sieminski M, Sonka K, Stiasny-Kolster K, de Weerd A, Wetter TC, Winkelmann J, Zucconi M. Clinical trials in restless legs syndrome–recommendations of the European RLS Study Group (EURLSSG). Mov Disord 2007:S495-504.
- Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A, Bs SJ, Hedrich K, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Scott W, Klein C, Brice A, Roomere H, Ottman R, Marder K. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Mov Disord 2007;7:932-937.
- Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007;Pt 3:828-835.
- Eggert K, Wüllner U, Antony G, Gasser T, Janetzky B, Klein C, Schöls L, Oertel W. Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany). Mov Disord 2007;5:611-618.
- Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics 2007;2:103-109.
- Steinlechner S, Stahlberg J, Völkel B, Djarmati A, Hagenah J, Hiller A, Hedrich K, König I, Klein C, Lencer R. Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. J Neurol Neurosurg Psychiatry 2007;5:532-535.
- Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology 2006;12:2206-2210.
- Kemlink D, Polo O, Montagna P, Provini F, Stiasny-Kolster K, Oertel W, de Weerd A, Nevsimalova S, Sonka K, Högl B, Frauscher B, Poewe W, Trenkwalder C, Pramstaller PP, Ferini-Strambi L, Zucconi M, Konofal E, Arnulf I, Hadjigeorgiou GM, Happe S, Klein C, Hiller A, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J. Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov Disord 2006;2:207-212.
- Kostić VS, Svetel M, Kabakci K, Ristić A, Petrović I, Schüle B, Kock N, Djarmati A, Romac S, Klein C. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci 2006;1-2:92-96.
- Stefanova E, Djarmati A, Momcilović D, Dragasević N, Svetel M, Klein C, Kostić VS. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006;11:2010-2015.
- Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet 2006;4:716-723.
- Schmidt A, Jabusch HC, Altenmüller E, Hagenah J, Brüggemann N, Hedrich K, Saunders-Pullman R, Bressman SB, Kramer PL, Klein C. Dominantly transmitted focal dystonia in families of patients with musician's cramp. Neurology 2006;4:691-693.
- Hagenah JM, Hedrich K, Becker B, Pramstaller PP, Seidel G, Klein C. Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology 2006;12:1951-1952.
- Helmchen C, Schwekendiek A, Pramstaller PP, Hedrich K, Klein C, Rambold H. Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. Journal of Neurology 2006;8:1071-1075.
- Nitschke MF, Erdmann C, Trillenberg P, Sprenger A, Kock N, Sperner J, Klein C. Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia. Neuropediatrics 2006;2:79-82.
- Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch Neurol 2006;6:833-838.
- Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006;6:826-832.
- Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Mov Disord 2006;9:1506-1510.
- Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostić V, Klein C. Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? Mov Disord 2006;9:1526-1530.
- Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Volpato CB, Aridon P, Mayer T, Meitinger T, Klein C, Casari G, Pramstaller PP. Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate. Mov Disord 2006;8:1189-1195.
- Klein C, Grünewald A, Hedrich K. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 2006;7:1129-30; author reply 1129-30.
- Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St George-Hyslop P, Klein C, Lang AE. Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients. Mov Disord 2006;6:875-879.
- Klein C. Implications of genetics on the diagnosis and care of patients with Parkinson disease. Arch Neurol 2006;3:328-334.
- Ozelius LJ, Senthil G, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman SB. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 2006;4:424-425.
- Djarmati A, Svetel M, Momcilovic D, Kostic V, Klein C. Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. Arch Neurol 2005;10:1641.
- Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord 2005;2:258-263.
- Kis B, Hedrich K, Kann M, Schwinger E, Kömpf D, Klein C, Pramstaller PP. Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications. Neurology 2005;5:761.
- Dragasević NT, Culjković B, Klein C, Ristić A, Keckarević M, Topisirović I, Vukosavić S, Svetel M, Kock N, Stefanova E, Romac S, Kostić VS. Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients. Mov Disord 2005;2:187-191.
- Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 2005;3:411-422.
- Klein C, Schneider RJ, Meyer MT, Aga DS. Enantiomeric separation of metolachlor and its metabolites using LC-MS and CZE. Chemosphere 2005;10:1591-1599.
- Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005;9:1086-1093.
- Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, DeStefano AL, Latourelle JC, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Herbert A, Myers RH. Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Movement Disorders : official Journal of The Movement Disorder Society 2005;9:1188-1191.
- Hedrich K, Pramstaller PP, Stübke K, Hiller A, Kabakci K, Purmann S, Kasten M, Scaglione C, Schwinger E, Volkmann J, Kostic V, Vieregge P, Martinelli P, Abbruzzese G, Klein C, Zühlke C. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord 2005;8:1060-1062.
- Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O. Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord 2005;9:1191-1194.
- Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005;5:908-911.
- Kahl KG, Trillenberg P, Kordon A, Lencer R, Klein C, Hagenah J. [Pharmacological strategies for clozapine-induced hypersalivation: treatment with botulinum toxin B in one patient and review of the literature]. Der Nervenarzt 2005;2:205-208.
- Lencer R, Eismann G, Kasten M, Kabakci K, Geithe V, Grimm J, Klein C. Family history of primary movement disorders as a predictor for neuroleptic-induced extrapyramidal symptoms. Br J Psychiatry 2004:465-471.
- Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S, deLeon D, Ford B, Brin M, Chouinard S, Ozelius L, Klein C, Bressman SB. Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Molecular Genetics And Metabolism 2004;3:207-212.
- Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004;12:1445-1449.
- Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004;10:1146-1157.
- Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat 2004;4:321-329.
- Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Genetic heterogeneity in ten families with myoclonus-dystonia. Journal of Neurology, Neurosurgery, And Psychiatry 2004;8:1181-1185.
- Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S, Hering R, Riess O, Romac S, Klein C, Kostic V. Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 2004;5:525.
- Wang F, Denison S, Lai JP, Philips LA, Montoya D, Kock N, Schüle B, Klein C, Shridhar V, Roberts LR, Smith DI. Parkin gene alterations in hepatocellular carcinoma. Genes Chromosomes Cancer 2004;2:85-96.
- Klein C. [Genetics of dystonia]. Fortschr Neurol Psychiatr 2004;4:220-32; quiz 233-4.
- Hedrich K, Meyer EM, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl AJ, Tijssen MA, Klein C. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology. 2004;7:1229-1231.
- Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Hagenah J, Pramstaller PP, Nitschke MF, Münchau A, Sperner J, Klein C. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Mov Disord 2004;2:231-234.
- Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord 2004;2:217-220.
- Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol 2004;1:145; author reply 145-6.
- Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Fink SJ, Myers RH, Herbert A, GenePD study. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology 2003;11:1557-1561.
- Denison SR, Wang F, Becker NA, Schüle B, Kock N, Phillips LA, Klein C, Smith DI. Alterations in the common fragile site gene Parkin in ovarian and other cancers. Oncogene 2003;51:8370-8378.
- Wellenbrock C, Hedrich K, Schäfer N, Kasten M, Jacobs H, Schwinger E, Hagenah J, Pramstaller PP, Vieregge P, Klein C. NR4A2 mutations are rare among European patients with familial Parkinson's disease. Ann Neurol 2003;3:415.
- Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Frequency of parkin mutations in late-onset Parkinson's disease. Ann Neurol 2003;3:415-6; author reply 416-7.
- Lincoln S, Wiley J, Lynch T, Langston JW, Chen R, Lang A, Rogaeva E, Sa DS, Munhoz RP, Harris J, Marder K, Klein C, Bisceglio G, Hussey J, West A, Hulihan M, Hardy J, Farrer M. Parkin-proven disease: common founders but divergent phenotypes. Neurology 2003;10:1605-1610.
- Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;6:1303-1311.
- Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol 2002;5:675-679.
- Pal PK, Leung J, Hedrich K, Samii A, Lieberman A, Nausieda PA, Calne DB, Breakefield XO, Klein C, Stoessl AJ. [18F]-Dopa positron emission tomography imaging in early-stage, non-parkin juvenile parkinsonism. Mov Disord 2002;4:789-794.
- Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbruzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZK, Zühlke C, Klein C. Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann Neurol 2002;2:257-8; author reply 258.
- Klein C, Ozelius LJ. Dystonia: clinical features, genetics, and treatment. Curr Opin Neurol 2002;4:491-497.
- Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002;5:621-625.
- Kock N, Culjkovic B, Maniak S, Schilling K, Müller B, Zühlke C, Ozelius L, Klein C, Pramstaller PP, Kramer PL. Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q. Am J Hum Genet 2002;1:205-8; author reply 208.
- Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord 2002;2:424-426.
- DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet 2002;5:1089-1095.
- Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss WD. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;1:50-54.
- Vitaliani R, Scaravilli T, Egarter-Vigl E, Giometto B, Klein C, Scaravilli F, An SF, Pramstaller PP. The pathology of the spinal cord in progressive supranuclear palsy. J Neuropathol Exp Neurol 2002;3:268-274.
- Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
- Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
- Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss W-D, Pramstaller PP. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
- Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 2001;9:160-164.
- Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin MF, Camp SM, Ebersole BJ, Fink S, Forsgren L, Friedman J, Grimes D, Holmgren G, Kyllerman M, Lang AE, de Leon D, Leung J, Prioleau C, Raymond D, Sanner G, Saunders-Pullman R, Schilling K, Vieregge P, Wahlström J, Breakefield XO, Kramer PL, Ozelius LJ, Sealfon SC. Evaluation of the role of the D2 dopamine receptor in myoclonus-dystonia. Ann Neurol 2000;47:369-373.
- Morrish PK, Vieregge P, Hagenah J, Heberlein I, Klein C, Ludin H-P. Parkinson's disease in twins. Neurology 2000;54:1710-1711.
- Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
- Klein C, Schumacher K, Jacobs H, Hagenah J, Kis B, Garrels J, Schwinger E, Ozelius L, Pramstaller P, Vieregge P, Kramer PL. Association studies of Parkinson’s disease and parkin polymorphisms. Ann Neurol 2000;48:126-127.
- Kis B, Heberlein I, Hagenah J, Jacobs H, Klein C, Vieregge P. Neuropsychological abnormalities in first degree relatives of patients with familial Parkinson's disease. J Neurol Neurosurg Psychiatry 2000;N/A:838.
- Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R, Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 2000;N/A:1314-1319.
- Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield XO, Ozelius LJ, Risch NJ. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-1752.
- Friedman JRL, Klein C, Leung J, Woodward H, Ozelius LJ, Breakefield XO, Charness ME. The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology 2000;55:1417-1418.
- Hagenah J, Klein C, Sieberer M, Vieregge P. Exogenous levodopa is not toxic to elderly subjects with non-parkinsonian movement disorders: further clinical evidence. J Neural Transm 1999;106:301-307.
- Sieberer MG, Vieregge P, Klein C, Ozelius LJ, Wandinger K-P. Concordant late onset of craniocervical dystonia in a pair of monozygotic twins. Mov Disord 1999;14:1040-1043.
- Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, Breakefield XO, Brin MF, Ozelius LJ. Genetic analysis of three patients with an 18p- syndrome and dystonia. Neurology 1999;52:649-651.
- Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. The TOR1A (DYT1) gene family and role in early onset torsion dystonia. Genomics 1999;62:377-384.
- Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999;46:794-798.
- Klein C, Vieregge P, Hagenah J, Sieberer M, Doyle E, Jacobs H, Gasser T, Breakefield XO, Risch N, Ozelius LJ. Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson’s disease from Northern Germany. Ann Hum Genet 1999;63:285-291.
- Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, de Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999;3:323-328.
- Klein C, Brin MF, Kramer P, Sena Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Association of a missense change in the D2 dopamine receptor with myoclonus-dystonia. Proc Natl Acad Sci 1999;96:5173-5176.
- Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman S, Dobyns WB, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol 1999;46:176-182.
- Klein C, Vieregge P, Heide W, Kemper B, Hagedorn-Greiwe M, Hagenah J, Vollmer C, Breakefield XO, Kömpf D, Ozelius L. Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics 1998;54:176-177.
- Klein C, Vieregge P. Fahr’s disease – far from a disease. Mov Disord 1998;13:620-621.
- Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman J, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998;7:1133-1136.
- Klein C, Gehrking E, Vieregge P. Voluntary palatal tremor in two siblings. Mov Disord 1998;13:545-548.
- Klein C, Ozelius L, Hagenah J, Breakefield XO, Risch NJ, Vieregge P. Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet 1998;63:1777-1782.
- Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol 1998;44:394-398.
- Vieregge P, Klein C, Heinzow B. Zur neurotoxikologischen Bewertung des Multiple Chemical Sensitivity (MCS)-Syndroms: Wie gelangen wir an reliable Ergebnisse? Gesundh-wes 1997;59:413-414.
- Klein C, Brown R, Wenning GK, Quinn NP. The “cold hands sign” in multiple system atrophy. Mov Disord 1997;12:514-518.
- Vieregge P, Klein C, Gehrking E, Körtke D, Kömpf D. The diagnosis of “essential palatal tremor”. Neurology 1997;49:248-249.
- Klein C, Vieregge P, Kömpf D. Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea and dystonia. Mov Disord 1997;12:254-255.
- Klein C, Kömpf D, Pulkowski U, Moser A, Vieregge P. A study of visual hallucinations in patients with Parkinson´s disease. J Neurol 1997;244:371-377.
- Vieregge P, Stolze H, Klein C, Heberlein I. Gait quantitation in Parkinson´s disease – Locomotor disability and correlation to clinical rating scales. J Neural Transm 1997;104:237-248.
- Wszolek ZK, Vieregge P, Uitti RJ, Gasser T, Yasuhara O, McGeer P, Calne DB, Vingerhoets FJG, Klein C, Pfeiffer RF. German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia – longitudinal observations. Parkinsonism And Related Disorders 1997;3:125-139.
- Vieregge P, Kaufmann U, Schäfer C, Steinauer K, Fey A, Klein C, Heberlein I, Zurloh A. Gangstörung als reduzierte sozial-praktische Kompetenz im Alter – Quantitative und Videofilm-gestützte Erfassung als Grundlage geriatrischer Rehabilitaion. Geriat forsch 1996;6:123-140.
- Klein C, Wenning GK, Quinn NP, Marsden CD. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 1996;11:217-220.
- Klein C, Wenning GK, Quinn NP. Pseudotransitorische ischämische Attacke als Erstsymptom bei Multisystematrophie. Nervenarzt 1995;66:133-135.
- Klein C, Gehl H-B, Hagenah J, Trillenberg P, Vieregge P. Kongenitaler muskulärer Tortikollis im Erwachsenenalter. Nervenheilkunde 1998;17:355-358. IF 0.4
- Klein C, Vieregge P. Nichtepileptische paroxysmale Bewegungsstörungen – Eine Übersicht. Nervenarzt 1998;69:647-659. IF 0.9
- Klein C, Breakefield XO, Ozelius L. Genetics of primary dystonia. In: Inherited neurologic disorders. Fink JK (Ed.) Semin Neurol 1999;3:271-280. IF 1.4
- Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P. Genetik der Dystonien. Nervenarzt 2000;71:431-441. IF 0.6
- Klein C, Vieregge P. Genetik der Dystonien. Neurodate 2001;15:18-22.
- Klein C. Genetische Aspekte des Parkinson-Syndroms. Schweiz Rundsch Med Prax 2001;90:1015-1023.
- Klein C, Ozelius L. Dystonia: Clinical features, genetics, and treatment. Curr Opin Neurol 2002;15:491-497. IF 4.3
- Klein C. Pedigrees and modes of inheritance. In: Biology for Students. Robinson R (Ed.) Biology. New York: MacMillan Reference USA, 2002, pp186-189.
- Klein C. Myoclonus and myoclonus-dystonias. In: Genetics of Movement Disorders. Pulst SM (Ed.), Academic Press 2003, pp451-471.
- Klein C, Lohmann K, Marras C, Münchau A. Hereditary Dystonia Overview. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2003 Oct 28 [updated 2017 Jun 22].
- Klein C. Genetik der Dystonien. Fortschr Neurol Psychiatr 2004;72:220-234. IF 0.8
- Klein C. Movement Disorders: Classifications. J Inherit Metab Dis 2005;28:425-439. IF 1.7
- Hagenah J, Kahl KG, Steinlechner S, Lencer R, Klein C. Die Behandlung der Sialorrhoe mit Botulinum-Toxin: Eine Übersicht. Nervenarzt 2005;76:418-425. IF 0.9
- Klein C. Implications of genetics on diagnosis and care of Parkinson disease patients. Arch Neurol 2006;63:328-334. IF 4,7
- Klein C, Schlossmacher MG. Parkinson disease genetics: Implications for neurological care. Nature Clin Pract Neurol 2006;2:136-146. IF 0.3
- Zadikoff C, Lang AE, Klein C. The “essentials” of essential palatal tremor: A reappraisal of the nosology. Brain 2006;129:832-840. IF 7.6
- Klein C, Ozelius L, Breakefield XO. Genetic evaluation in primary dystonia. In: Handbook of Dystonia. Stacy M (Ed.), Taylor & Francis Group 2007, pp 21-44.
- Lohmann-Hedrich K, Brüggemann N, Hagenah J, Klein C. Das Parkinson-Syndrom und seine genetischen Ursachen – eine Standortbestimmung. Akt Neurol 2007;34:151-161. IF 0.3
- Klein C, Lohmann-Hedrich K. Impact of recent genetic findings in Parkinson’s disease. Curr Opin Neurol 2007;20:453-464. IF 5.6
- Klein C, Schlossmacher MG. Parkinson disease, ten years after its genetic revolution: Multiple clues to a complex disorder. Neurology 2007;69:2093-2104. IF 6.0
- Winkelmann J, Polo O, Provini F, Nevsimalova S, Kemlink D, Sonka K, Hogl B, Poewe W, Stiasny-Kolster K, Oertel W, de Weerd A, Strambi LF, Zucconi M, Pramstaller PP, Arnulf I, Trenkwalder C, Klein C, Hadjigeorgiou GM, Happe S, Rye D, Montagna P. Genetics of restless legs syndrome (RLS): State-of-the-art and future directions. Mov Disord 2007;22(Suppl.18):S449-S458. IF 3.2
- Trenkwalder C, Kohnen R, Allen RP, Benes H, Ferini-Strambi L, Garcia-Borreguero D, Hadjigeorgiou GM, Happe S, Hogl B, Hornyak M, Klein C, Nass A, Montagna P, Oertel WH, O'keeffe S, Paulus W, Poewe W, Provini F, Pramstaller PP, Sieminski M, Sonka K, Stiasny-Kolster K, de Weerd A, Wetter TC, Winkelmann J, Zucconi M. Clinical trials in restless legs syndrome-Recommendations of the European RLS Study Group (EURLSSG). Mov Disord 2007;22(Suppl.18):S495-S504. IF 3.2
- Klein C. Dystonia: Myoclonus-dystonia, The New Encyclopedia of Neuroscience, Squire L et al. (Hrsg.), Elsevier 2007.
- Kock N, Lohmann K, Klein C. Dystonia, primary. In: Encyclopedia of Molecular Mechanisms of Disease. Lang F (Ed.), Springer, 2008:558-560.
- Lohmann K und Klein C. Genetics of Parkinson disease. Continuum: Lifelong Learning in Neurology. 2008;14:90-113. IF 7.0
- Schmidt A, Jabusch HC, Altenmüller E, Hagenah J, Saunders-Pullman R, Bressman S, Münchau A, Klein C. Is musician’s dystonia an inherited condition? In: Williamon A, Pretty S, Buck R, eds. Proceedings of the International Symposium on Performance Science 2009. Utrecht: European Association of Conservatoires (AEC) 2009:375-380.
- Klein C, Schneider SA, Lang AE. Hereditary parkinsonism: Parkinson disease look-alikes – an algorithm for clinicians to ‘PARK’ genes and beyond. Mov Disord 2009;24:2042-2058. IF 4.0
- van der Vegt JPM, van Nuenen BFL, Bloem BR, Klein C, Siebner HR. Imaging the impact of genes on Parkinson’s disease. Neuroscience, 2009;164:191-204. IF 3.3
- Kasten M, Kertelge L, Brüggemann N, van der Vegt J, Schmidt A, Tadic V, Buhmann C, Steinlechner S, Behrens MI, Ramirez A, Binkofski F, Siebner H, Raspe H, Hagenah J, Lencer R, Klein C. Non-motor symptoms in genetic Parkinson disease. Arch Neurol 2010;67:670-676. IF 7.1
- Brüggemann N, Vegt J, Klein C, Siebner HR. Neurobildgebung genetischer Aspekte der Parkinson-Krankheit. Nervenarzt 2010;81:1196-1203. IF 0.7
- Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol 2010;17:65-70. IF 3.8
- Brüggemann N, Klein C. Genetics of primary torsion dystonia. Curr Neurol Neurosci Reports 2010;10:199-206. IF 2.7
- Klein C, Djarmati A. Genetic testing in Parkinson disease – who should be assessed? Nat Rev Neurol 2011;7:7-9. IF 8.3
- Schneider S, Klein C. Dystonic syndromes. Uncommon causes of movement disorders. Galvez-Jimenez und Tuite (Hrsg.), Cambridge University Press 2011; pp.121-130.
- Klein C, Krainc D, Schlossmacher MG, Lang AE. Translational research in neurology and neuroscience 2011: Movement disorders. Arch Neurol 2011;68:709-716. IF 7.6
- Hellenbroich Y, Klein C. Grundlagen der Humangenetik: Vom Stammbaum zur Genanalyse. Sprache Stimme Gehör 2011;35:72-77. IF 0.1
- Schneider SA, Klein C. What is the role of genetic testing in movement disorders practice? Curr Neurol Neurosci Rep 2011;11:351-361. IF 3.5
- Schneider SA, Schneider UH, Klein C. Genetic testing for neurologic disorders. Semin Neurol 2011; 31:542-552. IF 1.6
- Klein C. Genetisches Testen auf erbliche Parkinson-Syndrome. Akt Neurol 2011;38: 533-537.
- Kaindl AM, Klein C. Dystonien. In: Neuropädiatrie, 4. Auflage (2011), Aksu F (Hrsg.), UNI-MED Verlag, 306-318.
- Klein C und Westenberger A. Genetics of Parkinson’s disease. Cold Spring Harb Perspect Med 2012;2(1):a008888.
- Kumar KR, Lohmann K, Klein C. Genetics of Parkinson disease and other movement disorders. Curr Opin Neurol 2012;25:466-474. IF 4.9
- Grünewald A, Klein C. Parkin-associated Parkinson’s disease. In: Parkinson’s Disease. CRC press. R.E. Pfeifer, Wszolek Z.K., M. Ebati (Hrsg.); 2nd Edition, 2013;161-174 (Chapter 13).
- Kasten M, Klein C. Update of “Non-motor signs in genetic forms of Parkinson’s Disease.” In Non-Motor Symptoms of Parkinson’s disease, KR Chaudhuri, Eduardo Tolosa, Anthony Schapira and Werner Poewe (eds.), Oxford University Press, New York, 2013.
- Krüger R und Klein C. Genetik der Parkinson-Krankheit. Medgen 2013;25:215-220.
- Dehay B, Martinez-Vicente M, Caldwell GA, Caldwell KA, Yue Z, Cookson MR, Klein C, Vila M, Bezard E. Lysosomal impairment in Parkinson’s disease. Mov Disord 2013;28:725-732. IF 5.6
- Klein C und Fahn S. Translation of Oppenheim´s 1911 paper on dystonia. Mov Disord 2013;28:851-862. IF 5.6
- Lohmann K und Klein C. Genetics of dystonia: What’s known? What’s New? What’s Next? Mov Disord 2013;28:899-905. IF 5.6
- Klein C und Münchau A. Progressive dystonia. Handb Clin Neurol 2013;113:1889-1897.
- Schneider SA und Klein C. The many faces of parkinsonism: A review of the Parkinson look-alike syndromes. In: Movement Disorders (Oxford Textbooks in Clinical Neurology), Oxford University Press, Burn D (Hrsg.), 2013.
- Morgante F, Klein C. Dystonia. Continuum (Minneap Minn) 2013;19:1225-1241.
- Westenberger A und Klein C. Genetics of dystonia. Dystonia and Dystonic Syndromes. Springer, 2014.
- Klein C. Genetics in dystonia. Park Rel Disord 2014;20 Suppl 1:S137-142. IF 4.1
- Lohmann K und Klein C. Dystonia. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease (Elsevier), 2014.
- Lohmann K, Klein C. Next Generation sequencing and the future of genetic diagnosis. Neurotherapeutics 2014;11:699-707. IF 5.1
- Capetian P, Pauly MG, Azmita LM, Klein C. Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models. Front Cell Neurosci 2014;8:205. IF 4.3
- Westenberger A, Klein C. The Genetics of Primary Familial Brain Calcifications. Curr Neurol Neurosci Rep 2014;14:490. IF 3.1
- Klein C. Early-onset dystonia. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 1-6
- Klein C. Dopa-responsive dystonia In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 7-10.
- Klein C. Myoclonus Dystonia. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014,11-16.
- Klein C. Dominant Parkinson Disease. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 33-38.
- Klein C. Recessive Parkinsons Disease. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 39-44.
- Klein C. Coinciental Occurrence of two Monogenic Disorders. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 163-166.
- Klein C. Direct-to-consumer genetic testing. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 167-170.
- Klein C. Incidental findings in Genetic Testing. In: Kumar K, Sue CM, Münchau A, Klein C. Neurogenetics. Oxford New York: Oxford University Press, 2014, 171-174.
- Westenberger A und Klein C. Genetics of dystonia. Dystonia and Dystonic Syndromes. Springer, 2015.
- Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;138:3476-3495. IF 10.1
- Ebrahimi-Fakhari D, Moufawad El Achkar C, Klein C. PRRT2-associated paroxysmal movement disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 2018; 1993–2022.
- Domingo A, Klein C. Genetics of Parkinson disease. Handb Clin Neurol 2018;147:211-227.
- Olanow CW, Klein C, Schapira AHV. Chapter 427: Parkinson’s Disease. Harrison’s Principles of Internal Medicine, 20th Edition, 2018.
- Seibler P, Klein C. Encyclopedia of Tissue Engineering and Regenerative Medizin. Vol. 2 (pp. 483–492). Academic Press: Elsevier. ISBN: 9780128136997.
- Westenberger A, Balck A, Klein C. Primary familial brain calcifications: genetic and clinical update. Curr Opin Neurol. 2019;32:571-578. IF 4.2
- Weissbach A, Wittke C, Kasten M, Klein C. ‘Atypical' Parkinson's disease – genetic. Int Rev Neurobiol. 2019;149:207-235. IF 2.6
- van der Veen S, Zutt R, Klein C, Marras C, Berkovic SF, Caviness JN, Shibasaki H, de Koning TJ, Tijssen MAJ. Nomenclature of genetically determined myoclonus syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord. 2019 Nov;34:1602-1613. IF 8.7
- Klein C. Leadership in Movement Disorders, Bios, pp 95-98. ISBN: 9783030129668.
- Tran F, Klein C, Arlt A, Imm S, Knappe E, Simmons A, Rosenstiel P, Seibler P. Stem cells and organoid technology in precision medicine in inflammation: Are we there yet? Front Immunol 2020;11:573562. IF 7.6
- Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A. Genotype-phenotype relations in primary familial brain calcification: Systematic MDSGene review.Mov Disord 2021;36:2468-2480. IF 9.7
- Mestre TA, Fereshtehnejad SM, Berg D, Bohnen NI, Dujardin K, Erro R, Espay AJ, Halliday G, van Hilten JJ, Hu MT, Jeon B, Klein C, Leentjens AFG, Marinus J, Mollenhauer B, Postuma R, Rajalingam R, Rodríguez-Violante M, Simuni T, Surmeier DJ, Weintraub D, McDermott MP, Lawton M, Marras C. Parkinson's disease subtypes: Critical appraisal and recommendations. J Parkinsons Dis 2021;11:395-404. IF 5.5
- Wittke C, Petkovic S, Dobricic V, Schaake S; MDS‐endorsed PSP Study Group, Respondek G, Weissbach A, Madoev H, Trinh J, Vollstedt EJ, Kuhnke N, Lohmann K, Dulovic Mahlow M, Marras C, König IR, Stamelou M, Bonifati V, Lill CM, Kasten M, Huppertz HJ, Höglinger G, Klein C. Genotype-phenotype relations for the atypical parkinsonism genes: MDSGene Systematic Review. Mov Disord 2021;36:1499-1510. IF 4.5
- Vos M, Klein C, Hicks AA. Role of ceramides and sphingolipids in Parkinson's disease. J Mol Biol 2023;168000. IF 6.2
- Müller-Nedebock AC, Dekker MC, Farrer MJ, Hattori N, Lim SY, Mellick GD, Rektorová I, Salama M, Schumacher-Schuh AF, Stoessl AJ, Sue CM, Tan AH, Vidal RL, Klein C, Bardien S. Different pieces of the same puzzle: A multifaceted perspective on the complex biological basis of Parkinson’s disease. NPJ Parkinsons Dis;9:110. IF 8.5
- Olszewska DA, Shetty A, Rajalingam R, Rodriguez-Antiguedad J, Hamed M, Huang J, Breza M, Rasheed A, Bahr N, Madoev H, Westenberger A, Trinh J, Lohmann K, Klein C, Marras C, Waln O. Genotype-phenotype relations for episodic ataxia genes: MDSGene Systematic Review. Eur J Neurol 2023;30:3377-3393. IF 6.3
- Huh YE, Usnich T, Scherzer CR, Klein C, Chung SJ. GBA1 variants and Parkinson’s Disease: Paving the way for targeted therapy. J Mov Disord;in press. IF 2.8
- Kumar KR, Sue CM, Münchau A, Klein C. What Do I Do Now. Neurogenetics. Oxford University Press 2014; ISBN:9780199383894.
- Domingo A, Klein C. Genetics of Parkinson disease. Handb Clin Neurol. 2018;147:211-227.
- Geschwind DH, Paulson HL, Klein C. Neurogenetics Part I. 2018 (Handbook of Clinical Neurology, Vol 147, 3rd Series). ISBN: 978-0444632333.
- Geschwind DH, Paulson HL, Klein C. Neurogenetics Part II. 2018 (Handbook of Clinical Neurology, Vol 148, 3rd Series). ISBN: 978-0444640765.
- Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A. Transcriptional alterations in X-linked dystonia–Parkinsonism caused by the SVA retrotransposon. MDPI Books open acces: Transcriptional regulation and its misregulation in human diseases: https://www.mdpi.com/books/book/7345-transcriptional-regulation-and-its-misregulation-in-human-diseases Int J Mol Sci. May 2023. ISBN 978-3-0365-7737-1.
- Klein C, Bonifati V. Dissecting the complexity of frontotemporal dementia: genotypes, phenotypes, and phenocopies. Editorial. Neurology 2007;69:129-130. IF 6,0
- Klein C. ‘Parkinson’s disease: A fresh look at genetics and pathogenesis’. Buch-Rezension zu Parkinson’s Disease: Genetics and Pathogenesis. Ted Dawson (Hrsg.), Informa Healthcare 2007, Lancet Neurology 2007;6(11):951.
- Klein C. Can transcranial sonography differentiate genetic from idiopathic Parkinson’s disease? Journal Watch Neurology 2007 Dez.
- Klein C. DYT16: A new twist to familial dystonia. Lancet Neurol 2008;7:192-193. IF 14.3
- Klein C, Ziegler A. How to predict the risk of Parkinson’s disease in relatives of Parkin mutation carriers: A complex puzzle of age, penetrance, and number of mutated alleles. Arch Neurol 2008;65:443-444. IF 5.9
- Klein C. Introduction into the ‘Continuum on Neurogenetics’. Continuum: Lifelong Learning in Neurology. 2008;14:13-14.
- Klein C, Lohmann K. Parkinson disease(s): Is ‘Parkin disease’ a distinct clinical entity? Neurology 2009;72:106-107. IF 8.2
- Klein C, Ziegler A. From GWAS to clinical utility in Parkinson’s disease. Lancet 2011; 377:613-614. IF 23.5
- Klein C. Next-generation neurogenetics: the future has begun. Semin Neurol 2011; 31:431-432. IF 1.6
- Orolicki S, Klein C. Elucidating novel functions of TorsinA: Elimination of misfolded proteins from the endoplasmic reticulum. Mov Disord 2011;26:11,1974. IF 4.5
- Klein C, Krainc D. Movement disorders in 2011: Translating new research findings into clinical practice. Nat Rev Neurol 2011;8:65-66. IF 12.5
- Lohmann K, Klein C. Hot Topics in Movement Disorders. Familial idiopathic basal ganglia calcification: Unraveling the first genetic cause. Mov Disord 2012;27:963. IF 4.5
- Klein C, König I, Lohmann K. “Exome sequencing for gene discovery: Time to set standard criteria”. Ann Neurol 2012;2627-2628. IF 11.1
- Klein C, Lohmann K, Ziegler A. The promise and limitations of genome-wide association studies. JAMA 2012;308:1867-1868. IF 30.0
- Klein C, Krainc D. Glucocerebrosidase mutations: Tipping point towards Parkinson disease and dementia? JAMA Neurol 2013;70:686-688. IF 30.0
- Klein C, Gasser T. Einführung in die Neurogenetik. Nervenarzt 2013;84:135-136. IF 0.9
- Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873. IF 5.6
- Kasten M, Klein C. The many faces of alpha-synuclein mutations. Mov Disord 2013;28:697701. IF 5.6
- Klein C, Riess O. Genetik erblicher Bewegungsstörungen. Medgen 2013;25:204-205. IF 0.2
- Kumar KR, Klein C. Commentary on clinical vignette: Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy. Mov Disord 2014;E1-2. IF 5.6
- Seibler P, Klein C. Stimulus-triggered acquisition of pluripotency: Revolutionizing human disease modeling and regenerative therapies? Mov Disord 2014;29:451. IF 5.6
- Weissbach A, Klein C. Hereditary dystonia and parkinsonism: Two sides of the same coin? Brain 2014;137:2402-2404. IF 9.2
- Marz M, Ferracin M, Klein C. Small but mighty: MicroRNAs as biomarker of Parkinson disease? Neurology 2015;84:636-638. IF 8.2
- Bertram L, Klein C. Probing the exome in Alzheimer’s disease and other neurodegenerative disorders. JAMA Neurol 2015; 72:389-391. IF 8.2
- Kasten M, Klein C. Genetic risk loci for Parkinson's disease: Moving from state to trait? Mov Disord 2015;30:747-749. IF 6.0
- Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, MD, Klein C, Bertram L. Launching the Movement Disorders Society Genetic Mutation Database (MDSGene). Mov Disord 2016; 31:607-609. IF 6.0
- Grünewald A, Klein C. Urinary LRRK2 phosphorylation: Penetrating the thicket of Parkinson’s disease? Neurology 2016;86:984-985. IF 8.2
- Klein C. Genetics Series. Mov Disord 2016; 31:435. IF 6.0
- Fung VSC, Chang FCF, Westenberger A, Klein C. Reply Letter to “ADCY5-Reltated Dyskinesia: Comments on characteristic manifestations and Variant- Associated Severity”. Mov Disord 2017;32:306. IF 7.1
- Lill CM, Klein C. What Would Dr. James Parkinson Think Today? The Role of Genetics in Parkinson’s Disease. Mov. Disord 2017;32:1115-1116. IF 7.1
- Lill CM, Klein C. Epidemiology and causes of Parkinson's disease. Nervenarzt 2017;88:345-355.
- Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep 2017;17:26. IF 3.3
- Balck A, Klein C. Reduced penetrance of Leucine-rich repeat kinase 2 mutations: Discovering genetic factors of endogenous disease protection. Mov Disord 2017;32:527. IF 7.1
- Kasten M, Marras C, Klein C. Nonmotor Signs in Genetic Forms of Parkinson's Disease. Int Rev Neurobiol 2017;133:129-178.
- Jinnah HA, Alterman R, Klein C, Krauss J, Moro, E, Vidailhet M, Raike R. Deep Brain Stimulation for Dystonia: A Novel Perspective on the Value of Genetic Testing. J Neural Transm 2017;124:417-430. IF 2.8
- Klein C, Lohmann K, Marras C, Münchau A. Hereditary Dystonia Overview. Gene Reviews 2017, Update. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Source GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2003 Oct 28 [updated 2017 Jun 22].
- Westenberger A, Klein C. Essential phenotypes of NOTCH2NLC-related repeat expansion disorder. Brain 2020;143:5-8. IF 13.5
- Trinh J, Klein C. Needle in a haystack: The common can inform the rare in restless legs syndrome. Ann Neurol 2020;87:172-174. IF 10.4
- Saranza G, Grütz K, Klein C, Westenberger A, Lang AE. Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia. Brain 2020;143:e36. IF 13.5
- Busch H, Klein C. Putting genes in order: How dystonia genes functionally converge on the transcriptome. Brain 2020;143:2631-26334. IF 13.5
- Klein C, König IR. Exploring uncharted territory: genetically determined sex differences in Parkinson’s disease. Ann Neurol 2021;90:15-18. 11.3
- Saper CB, Klein C, McArthur J, Pearl PL, Goetz CP. Remembrance of things past: A critical step in changing our future. Ann Neurol 2021;90:521-523. IF 11.3
- Vos M, Klein C. Ceramide-induced mitophagy impairs ß-oxidation-linked energy production in PINK1 deficiency. Autophagy 2022;14:1-2. IF 13.4
- Klein C, Kaiser F. Reduced penetrance in hereditary movement disorders. Medgen-de Gruyter 2022;34:2. IF 1,1
- Klein C. Let’s make science, not war! Sci Adv 2022;8:eadf1663. IF 14.1
- Pramstaller PP, Berlit P, Bassetti CL, Klein C. What if I could become the doctor I always wanted to be? Eur J Neurol 2022;29:3481-3483. IF 6.3
- Klein C, Bloem B. Research in movement disorders in 2022: a new era of biomarker and treatment development. Lancet Neurol 2023;22:17-19. IF 48.0
- Berg D, Klein C. Alpha-synuclein seed amplification and its uses in Parkinson’s disease. Lancet Neurol 2023;22:369-371. IF 48.0
- Awad PS, Klein C. Reply to: “Non-GAA repeat expansions in FGF-14 are likely not pathogenic”. Mov Disord 2023;38:1577-1578. IF 9.7
- Roopnarain K, Klein C. Genetic testing for GBA and LRRK2 mutations: Is it time for routine use? Mov Disord Clin Pract 2023;10:S26-S31. IF 4.5
- Schneider SA, Klein C: PINK1 Type of Young-Onset Parkinson Disease (March 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
- Schneider SA und Klein C: PINK1 Type of Young-Onset Parkinson Disease (September 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
- Schneider SA und Klein C: PINK1 Type of Young-Onset Parkinson Disease (September 2014) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
- Schneider SA, Klein C. PINK1 Type of Young-Onset Parkinson Disease. 2010 Mar 16 [Updated 2018 May 24]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.Available from: https://www.ncbi.nlm.nih.gov/books/NBK26472/
- Klein C, Wenning GK, Quinn NP. Pseudotransitorische ischämische Attacke als Erstsymptom bei Multisystematrophie. Nervenarzt 1995;66:133-135.
- Klein C, Wenning GK, Quinn NP, Marsden CD. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 1996;11:217-220.
- Vieregge P, Kaufmann U, Schäfer C, Steinauer K, Fey A, Klein C, Heberlein I, Zurloh A. Gangstörung als reduzierte sozial-praktische Kompetenz im Alter – Quantitative und Videofilm-gestützte Erfassung als Grundlage geriatrischer Rehabilitaion. Geriat Forsch 1996;6:123-140.
- Klein C, Vieregge P, Kömpf D. Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea and dystonia. Mov Disord 1997;12:254-255.
- Klein C, Brown R, Wenning GK, Quinn NP. The “cold hands sign” in multiple system atrophy. Mov Disord 1997;12:514-518.
- Klein C, Kömpf D, Pulkowski U, Moser A, Vieregge P. A study of visual hallucinations in patients with Parkinson´s disease. J Neurol 1997;244:371-377.
- Vieregge P, Klein C, Gehrking E, Körtke D, Kömpf D. The diagnosis of “essential palatal tremor”. Neurology 1997;49:248-249.
- Vieregge P, Klein C, Heinzow B. Zur neurotoxikologischen Bewertung des Multiple Chemical Sensitivity (MCS)-Syndroms: Wie gelangen wir an reliable Ergebnisse? Gesundh-Wes 1997;59:413-414.
- Vieregge P, Stolze H, Klein C, Heberlein I. Gait quantitaion in Parkinson´s disease – Locomotor disability and correlation to clinical rating scales. J Neural Transm 1997;104:237-248.
- Wszolek ZK, Vieregge P, Uitti RJ, Gasser T, Yasuhara O, McGeer P, Calne DB, Vingerhoets FJG, Klein C, Pfeiffer RF. German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia – longitudinal observations. Parkinsonism and Related Disorders 1997;3:125-139.
- Klein C, Vieregge P. Fahr’s disease – far from a disease. Mov Disord 1998;13:620-621.
- Klein C, Gehrking E, Vieregge P. Voluntary palatal tremor in two siblings. Mov Disord 1998;13:545-548.
- Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman J, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998;7:1133-1136.
- Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol 1998;44:394-398.
- Klein C, Vieregge P, Heide W, Kemper B, Hagedorn-Greiwe M, Hagenah J, Vollmer C, Breakefield XO, Kömpf D, Ozelius L. Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics 1998;54:176-177.
- Klein C, Ozelius L, Hagenah J, Breakefield XO, Risch NJ, Vieregge P. Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet 1998;63:1777-1782.
- Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, Breakefield XO, Brin MF, Ozelius LJ. Genetic analysis of three patients with an 18p- syndrome and dystonia. Neurology 1999;52:649-651.
- Klein C, Brin MF, Kramer P, Sena Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Association of a missense change in the D2 dopamine receptor with myoclonus-dystonia. Proc Natl Acad Sci 1999;96:5173-5176.
- Hagenah J, Klein C, Sieberer M, Vieregge P. Exogenous levodopa is not toxic to elderly subjects with non-parkinsonian movement disorders: further clinical evidence. J Neural Transm 1999;106:301-307.
- Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman S, Dobyns WB, Ozelius LJ, Brashear A: Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol 1999;46:176-182.
- Vieregge P, Hagenah J, Heberlein I, Klein C, Ludin H-P. Parkinson’s disease in twins: a follow-up study. Neurology 1999;53:566-572.
- Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999;46:794-798.
- Sieberer MG, Vieregge P, Klein C, Ozelius LJ, Wandinger K-P. Concordant late onset of craniocervical dystonia in a pair of monozygotic twins. Mov Disord 1999;14:1040-1043.
- Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, de Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999;3:323-328.
- Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. The TOR1A (DYT1) gene family and role in early onset torsion dystonia. Genomics 1999;62:377-384.
- Klein C, Vieregge P, Hagenah J, Sieberer M, Doyle E, Jacobs H, Gasser T, Breakefield XO, Risch N, Ozelius LJ. Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson’s disease from Northern Germany. Ann Hum Genet 1999;63:285-291.
- Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin MF, Camp SM, Ebersole BJ, Fink S, Forsgren L, Friedman J, Grimes D, HolmgrenG, KyllermanM, Lang AE, de Leon D, Leung J, Prioleau C,Raymond D, Sanner G, Saunders-Pullman R, SchillingK, ViereggeP, WahlströmJ, Breakefield XO, KramerPL, OzeliusLJ, SealfonSC. Evaluation of the role of the D2 dopamine receptor in myoclonus-dystonia. Ann Neurol 2000;47:369-373.
- Vieregge P, Hagenah J, Heberlein I, Klein C, Ludin H-P. Parkinson's disease in twins. Neurology 2000;54:1710-1711.
- Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield XO, Ozelius LJ, Risch NJ. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-1752.
- Klein C, Pramstaller PP, Kis B, Page C, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
- Klein C, Schumacher K, Jacobs H, Hagenah J, Kis B, Garrels J, Schwinger E, Ozelius L, Pramstaller P, Vieregge P, Kramer PL. Association studies of Parkinson’s disease and parkin polymorphisms. Ann Neurol 2000;48:126-127.
- Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R,Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M, Vieregge P, Wahlström J, Wendt KJ,Kramer PL, Bressman SB, OzeliusLJ. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 2000;67:1314-1319.
- Kis B, Heberlein I, Hagenah J, Jacobs H, Klein C, Vieregge P. Neuropsychological abnormalities in first degree relatives of patients with familial Parkinson's disease. J Neurol Neurosurg Psychiatry 2000;69:838.
- Friedman JRL, Klein C, Leung J, Woodward H, Ozelius LJ, Breakefield XO, Charness ME. The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology 2000;55:1417-1418.
- Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss W-D, Pramstaller PP. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
- Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 2001;9:160-164.
- Leung JC-o, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
- Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
- Klein C, Stewart GS, Quinn NP, Taylor MR. Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. Mov Disord 2001;16:788-789.
- DeStefano AL, Golbe LI, Mark M, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for parkinson's disease: The GenePD Study. Neurology 2001;57:1124-1126.
- Nitschke MF, Krüger G, Bruhn H, Klein C, Gehrking E, Wessel K, Frahm J, Vieregge P. Voluntary palatal tremor is associated with hyperactivation of the inferior olive: a functional magnetic resonance imaging study. Mov Disord 2001;16:1193-1195.
- Saunders-Pullman R, Shriberg J, Heiman G, Raymond D, Wendt K, Kramer P, Schilling K, Kurlan R, Klein C, Ozelius LJ, Risch NJ, Bressman SB. Myoclonus dystonia: Possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002;58:242-245.
- Maher NE, Golbe LI, Lazzarini AM, Mark MH, Currie LJ, Wooten GF, Saint-Hilaire M, Wilk JB, Volcjak J, Mahre JE, Feldman RG, Guttman M, Lew M, Schuman S, Suchowersky O, Lafontaine AL, Labelle N, Vieregge P, Pramstaller PP, Klein C, Hubble J, Reider C, Growdon J, Watts R, Montgomery E, Baker K, Singer C, Stacy M, Myers RH. Epidemiologic study of 203 sibling pairs with Parkinson's disease: The GenePD study. Neurology 2002;58:79-84.
- Kann M, Hedrich K, Vieregge P, Jacobs H, Müller B, Kock N, Schwinger E, Klein C, Marder K, Harris J, Meija-Santana H, Bressman S, Ozelius LJ, Lang AE, Pramstaller PP. The parkin gene is not involved in late-onset Parkinson´s disease. Neurology 2002;58:835.
- Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Goetz C, Vieregge P, Klein C. Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study. Neurology 2002;58:808-810.
- Vitaliani R, Scaravilli T, Egarter-Vigl E, Giometto B, Klein C, Scaravilli F, An SF, Pramstaller PP. The pathology of the spinal cord in progressive supranuclear palsy. J Pathol Exp Neurol 2002;61:268-274.
- Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss W-D. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323:50-54.
- Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord 2002;17:424-426.
- Kann M, Vieregge P, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Klein C. The role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002;51:621-625.
- DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten F, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine A-L, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. PARK3 influences Parkinson's disease onset age: A genome scan in the GenePD Study. Am J Hum Genet 2002;70:1089-1095.
- Hedrich K, Marder K, Harris J., Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson´s disease for parkin mutations. Neurology 2002;58:1239-1246.
- Kock N, Culjkovic B, Maniak S, Schilling K, Müller B, Zühlke C, Ozelius L, Klein C, Pramstaller PP, Kramer PL. Mode of inheritance and susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 2002;71:205-208.
- Kis B, Schrag A, Ben-Shlomo Y, Klein C, Gasperi A, Spoegler F, Schoenhuber R, Pramstaller PP. Novel three-stage ascertainment method: Prevalence of Parkinson's disease and parkinsonism in South Tyrol, Italy. Neurology 2002;58:1820-1825.
- Augood SJ, Hollingsworth Z, Albers DS, Yang L, Leung JC, Muller B, Klein C, Breakefield XO, Standaert DG. Dopamine transmission in DYT1 dystonia: A biochemical and autoradiographical study. Neurology 2002;59:445-448.
- Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbuzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZW, Zühlke C, Klein C. Role of SCA-2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann Neurol 2002;52:257-258.
- Bubel S, Peters V, Klein C, Hackler R, Schaefer JR, Hagenah J, Hoffmann GF, Vieregge P. CDG (congenital disorders of glycosylation) – Zur Differentialdiagnose hereditärer Ataxien im Erwachsenenalter. Nervenarzt 2002;73:754-760.
- Pal PK, Leung J, Hedrich K, Samii A, Lieberman A, Nausieda PA, Calne DB, Breakefield XO, Klein C, Stoessl AJ. [18F]-Dopa positron emission tomography imaging in early stage, non-parkin juvenile parkinsonism. Mov Disord 2002;17:789-794.
- Doheny D, Danisi F, Smith C, Morrison C, Velickovic M, de Leon D, Bressman SB, Leung J, Ozelius L, Klein C, Breakefield XO, Silverman J, Brin MF. Clinical findings of a myoclonus-dystonia family with two distinct mutations. Neurology 2002;59:1244-1246.
- Doheny DO, Brin MF,Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, de Carvalho Aguiar P, Schilling K, Kramer P, de Leon D, Raymond D, Saunders-Pullman R, Ozelius LJ, Klein C, Bressman SB, Schmand B, de Koning-Tijssen MAJ, Silverman JM. Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002;59:1187-1196.
- Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Epsilon-Sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol 2002;52:675-679.
- Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Exon deletions in the GCH1 gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002;59:1783-1786.
- Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Evidence for paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-1311.
- Maniak S, Sieberer M, Hagenah J, Klein C, Vieregge P. Focal and segmental primary dystonia in north-western Germany – a clinico-genetic study. Acta Neurol Scand 2003;107:228-232.
- Lincoln S, Wiley J, Lynch T, Langston W, Chen R, Lang A, Rogaeva E, Harris J, Marder K, Klein C, Bisceglio G, Hussey J, West A, Hulihan M, Hardy J, Farrer M. Parkin proven disease: common founders but divergent phenotypes. Neurology 2003;60:1605-1610.
- Foncke EMJ, Klein C, Koelman JHTM, Kramer PL, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman JD, Ozelius LJ, Tijssen MAJ. Hereditary dystonia associated with epilepsy. Neurology 2003;60:1988-1990.
- Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Frequency of Parkin mutations in late-onset Parkinson’s disease. Ann Neurol 2003;54:415-416.
- Wellenbrock C, Hedrich K, Schäfer N, Kasten M, Jacobs H, Schwinger E, Hagenah J, Pramstaller PP, Vieregge P, Klein C. NR4A2 mutations are rare among European patients with familial Parkinson’s disease. Ann Neurol 2003;54:415.
- Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Baker K, Lew M, Singer C, Watts R, Currie LJ, Wooten GF, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Perlmutter J, Racette B, Parsian A, Suchowersky O, Lafontaine AL, Labelle N, Growdon J, Vieregge P, Pramstaller P, Klein C, Stacy M, Gusella JF, Fink SJ, Myers RH, Herbert, A. A haplotype at the PARK3 locus influences onset age for Parkinson disease: The GenePD study. Neurology 2003;61:1557-1561.
- Denison SR, Wang F, Becker NA, Schüle B, Kock N, Phillips LA, Klein C, Smith DI. Alterations in the common fragile site gene parkin in ovarian and other cancers. Oncogene 2003;22:8370-8378.
- Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman S, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol 2004;55:145.
- Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. DJ-1 mutations are less frequent than Parkin mutations in early-onset Parkinson’s disease. Neurology 2004;62:389-394.
- Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Mutations in DYT1: Extension of the phenotypic and mutational spectrum. Neurology 2004;62:395-400.
- Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Pramstaller PP, Nitschke MS, Sperner J, Klein C. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Mov Disord 2004;19:231-234.
- Hagenah J, Zühlke C, Hellenbroich Y, Heide W, Klein C. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord 2004;19:217-220.
- Hedrich K, Meyer E-M, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl, Tijssen MAJ, Klein C. Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004;62:1229-1231.
- KahlKG, Hagenah J, Zapf S, TrillenbergP, Klein C, LencerR. Botulinum toxin as an effective treatment of clozapine-induced hypersalivation. Psychopharmacol 2004;173:229-230.
- Wang F, Denison S, Hall C, Kock N, Schüle B, Klein C, Shridhar V, Smith DI. Loss of Parkin expression in hepatocellular carcinoma cells and its association with the cytoskeleton. Gene Chromosome Canc 2004;40:85-96.
- Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S, Hering R, Riess O, Romac S, Klein C, Kostic V. Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of Parkinson’s disease patients. Hum Mut 2004;23:525.
- Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, de Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer E-M, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2004;75:1181-1185.
- Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz E-M, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Novel homozygous E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mut 2004;24:321-329.
- Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Distribution and origin of Parkin mutations: Review and case studies. Mov Disord 2004;19:1146-1157.
- Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004;19:1445-1449.
- Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S, deLeon D, Ford B, Brin M, Chouinard S, Ozelius L, Klein C, Bressman SB. Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test. Mol Genet Metab 2004;83:207-212.
- Lencer R, Eismann G, Kasten M, Kabakci K, Geithe V, Grimm J, Klein C. Family history of primary movement disorders as a predictor for neuroleptic-induced extrapyramidal symptoms. Brit J Psychiat 2004;185:465-471.
- Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurolgoy 2004;62:389-394.
- Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bresmman SB, Klein C. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005;64:908-911.
- Kahl KG, Trillenberg P, Kordon A, Lencer R, Klein C, Hagenah J. Therapie der Clozapin-induzierten Hypersalivation mit Botulinum-Toxin B – eine Kasuistik. Nervenarzt 2005;76:205-208.
- Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MHRM, Klein C. Genetic heterogeneity in rapid-onset dystonia-parkinsonism: Description of a new family. J Neurol Neurosurg Psychiatry 2005;76:860-862.
- Berg D, NiwarM, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel W, Bauer P, Krueger R, Gasser T, Riess O. Alpha-synuclein and Parkinson’s disease – implications from the screening of more than 1900 patients. Mov Disord 2005;20:1191-1194.
- Hedrich K, Pramstaller PP, Stübke K, Hiller A, Kabakci K, Purmann S, Kasten M, Scaglione C, Schwinger E, Volkmann J, Kostic V, Vieregge P, Martinelli P, Abbruzzese G, Klein C, Zühlke C. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson’s disease? Mov Disord 2005;20:1060-1062.
- Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman, M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, DeStefano AL, Latourelle JC, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PPP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Herbert A, Myers RH. Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson’s disease from the GenePD study. Mov Disord 2005;20:1188-1191.
- Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005;13:1086-1093.
- Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C. Lewy body Parkinson disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 2005;58:411-422.
- Kis B, Hedrich K, Kann M, Schwinger E, Kömpf D, Klein C, Pramstaller P. Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications. Neurology 2005;65:761.
- Djarmati A, Svetel M, Momcilovic D, Kostic V, Klein C. Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. Arch Neurol 2005;62:1641.
- Buhmann C, Binkofski F, Klein C, Büchel C, van Eimeren T, Erdmann C, Hedrich K, Kasten M, Hagenah J, Deuschl G, Pramstaller PP, Siebner HR. Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism. Brain 2005;128:2281-2290.
- Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology 2005;65:1823-1825.
- Van Hove JLK, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Moller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 2006;77:18-23.
- Ozelius LJ, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman S. LRRK2 G2019S as a cause of Parkinson’s disease in Ashkenazi Jews. New Engl J Med 2006;354:424-425.
- Dragasevic NT, Culjkovic B, Klein C, Ristic A, Keckarevic M, Topisirovic I, Vukosavic S, Svetel M, Kock N, Stefanova E, Romac S, Kostic VS. Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients. Mov Disord 2006;21:187-191.
- Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord 2006;21:258-263.
- Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology 2006;66:759-761.
- Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St. George-Hyslop P, Klein C, Lang AE. Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson’s disease patients. Mov Disord 2006;21:875-879.
- Klein C, Grünewald A, Hedrich K. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 2006;66:1129-1130.
- Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson’s disease: Role of a single hit? Arch Neurol 2006;63:833-838.
- Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of Heterozygosity for Parkin mutation on onset age in familial Parkinson’s disease: The GenePD Study. Arch Neurol 2006;63:826-832.
- Nitschke MF, Erdmann C, Trillenberg P, Sprenger A, Kock N, Sperner J, Klein C. Functional MRI reveals activation of a subcortical network in a 5-year old girl with genetically confirmed myoclonus-dystonia. Neuropediatrics 2006;37:79-82.
- Hagenah JM, Hedrich K, Becker B, Pramstaller PP, Seidel G, Klein C. Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology 2006;66:1951-1952.
- Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet 2006;79:716-723.
- Schmidt A, Jabusch H-C, Altenmüller E, Hagenah J, Brüggemann N, Hedrich K, Saunders-Pullman R, Bressman SB, Kramer PL, Klein C. Dominantly transmitted focal dystonia in families of patients with musician’s cramp. Neurology 2006;67:691-693.
- Helmchen C, Schwekendiek A, Pramstaller P, Hedrich K, Klein C, Rambold H. Blink amplitude but not saccade hypometria indicates carriers of Parkin mutations. J Neurol 2006;253:1071-1075.
- Foncke EM, Gerrits MC, van Ruissen F, Baas F, Hedrich K, Tijssen CC, Klein C, Tijssen MA. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. Neurology 2006;67:1677-1680.
- Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Beu Volpato C, Aridon P, Mayer T, Meitinger T, Klein C, Casari G, Pramstaller PP. Restless legs syndrome: epidemiological and clinico-genetic study in a South Tyrolean population isolate. Mov Disord 2006;21:1189-1195.
- Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostic V, Klein C. Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease? Mov Disord 2006;21:1526-1530.
- Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Recurrent LRRK2 (PARK8) mutations occur in early-onset Parkinson´s disease. Mov Disord 2006;21:1506-1510.
- Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, Kock N, Steinlechner S, Nagel M, Zühlke C, Nitschke M-F, Brockmann K, Klein C, Rolfs A, Binkofski F. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain 2006;129:2341-2352.
- Kostic V, Svetel M, Kabakci K, Ristic A, Petrovic I, Schüle B, Kock N, Djarmati A, Romac S, Klein C. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci 2006;250:92-96.
- Wilk JB, Tobin JE, Suchowersky O, Shill H, Klein C, Wooten GF, Lew M, Mark MH, Guttman M, Watts RL, Singer C, Growdon J, Latourelle JC, Saint-Hilaire M, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker K, Giroux ML, Litvan I, Pramstaller PP, Nicholson GA, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study. Neurology 2006;67:2206-2210.
- Stefanova E, Djarmati A, Momcilovic D, Svetel M, Klein C, Kostic VS. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in a Serbian family with Myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006;21:2010-2015.
- Hiller A, Hagenah J, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C, Kress W, Münchau A, Klein C. Phenotypic Spectrum of PINK1-associated parkinsonism in 15 mutations carriers from 1 Family. Mov Disord 2007;22:145-147.
- Kemlink D, Polo O, Montagna P, Provini F, Stiasny-Kolster K, Oertel W, de WeerdA, NevsimalovaS, Sonka K, HöglB, FrauscherB, PoeweW, TrenkwalderC, PramstallerPP, Ferini-StrambiL, ZucconiM, KonofalE, ArnulfI, HadjigeorgiouGM, HappeS, KleinC, HillerA, LichtnerP, MeitingerT, Müller-MyshokB, WinkelmannJ. Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov Disord 2007;22:207-212.
- Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJM, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MAJ, Webb D, Zaremba J, Bressman SB, Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007;130:828-835.
- Grünewald A, Breedveld GJ, Hedrich-Lohmann K, Rohe CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V. Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis. Neurogenetics 2007;8:103-109.
- Hess CW, Raymond D, de Carvalho Aguiar P, Frucht S, Shriberg J, Heiman GA, Kurlan R, Klein C, Bressman SB, Ozelius, Saunders-Pullman R. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007;68:522-524.
- Eggert K, Wüllner U, Anthony G, Gasser T, Janetzky B, Klein C, Schöls L, Oertel WH. Data protection in biomaterial banks for Parkinson´s disease research: the model of GEPARD (Gene Bank Parkinson´s Disease Germany). Mov Disord 2007;22:611-618.
- Steinlechner S, Stahlberg J, Völkel B, Djarmati A, Hagenah J, Hiller A, Hedrich K, König I, Klein C, Lencer R. Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. J Neurol Neurosurg Psychiatry 2007;78:532-535.
- Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A, Janin S, Hedrich K, Louis ED, Cote LC, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Scott W, Klein C, Brice A, Roomere H, Ottman R, Marder K. Construction and validation of Parkinson´s disease mutation genotyping array for the Parkin gene. Movement Disorders 2007;22:932-937.
- Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662.
- Hagenah JM, Reetz K, Zühlke C, Rolfs A, Binkofski F, Klein C. Predominant dystonia with marked cerebellar atrophy: a rare Pherotype in familial dystonia. Neurology 2007;68:2157-2158.
- Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, v Eimeren T, Thiel A, Büchel C, Pramstaller PP, Siebner HR, Klein C. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology 2007;69:842-850.
- Hübner J, Sprenger A, Klein C, Hagenah J, Rambold H, Zühlke C, Kömpf D, Rolfs A, Kommig H, Helmchen C. Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). Neurology 2007;69:1160-1168.
- Bäumer T, Pramstaller PP, Schippling S, Hagenah J, Peller M, Gerloff C, Siebner HR, Klein C, Münchau A. Sensorimotor integration is abnormal in asymptomatic Parkin mutation carriers: a TMS study. Neurology 2007;69:1976-1981.
- Djarmati A, Guzvic M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AOH, Beetz C, Hedrich K, Klein C. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 2007;22:1708-1714.
- Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C. alphaa-Synuclein and Parkinson’s disease susceptibility. Neurology 2007;69:1745-1750.
- Hagenah JM, König IR, Becker B, Hilker R, Kasten M, Hedrich K, Pramstaller PP, Klein C, Seidel G. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol 2007;254:1407-1413.
- Winkler S, König I, Lohmann-Hedrich K, Vieregge P, Kostic V, Klein C. Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson disease. Eur J Hum Genet 2007;15:1163-1168.
- Orth M, Djarmati A, Bäumer T, Winkler S, Grünewald A, Lohmann-Hedrich K, Kabakci K, Hagenah J, Klein C, Münchau A. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. Mov Disord 2007;22:2090-2096.
- Cerovac N, Petrovic I, Klein C, Kostic V. Delayed-onset Dystonia Due to Perinatal Asphyxia: A Prospective Study. Mov Disord 2007;22:2426-2429.
- Djarmati A, Dobricic V, Kecmanovic M, Marsh P, Jancic-Stefanovic J, Klein C, Djuric M, Romac S. MECP2 mutations in Serbian Rett syndrome patients. Acta Neurol Scand 2007;116:413-419.
- Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson M, Tan E-K, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, van Broeckhoven C, Farrer MJ, Wszolek ZK. Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson’s disease. Neurology 2008;70:1456-1460.
- Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König I, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C. Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci? Neurology 2008;70:686-694.
- Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohman K, Pinsker MO, Voges J, Djarmati A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology 2008;70:1186-1191.
- Paus S, Grünewald A, Klein C, Knapp M, Zimprich A, Janetzky B, Möller C, Klockgether T, Wüllner U. The DRD TaqIA polymorphism and demand of dopaminergic medication in Parkinson’s disease. Mov Disord 2008;23:599-602.
- Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. Mov Disord 2008;23:588-592.
- Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O’Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C. Myoclonus-dystonia: Significance of large SGCE deletions. Hum Mutat 2008;29:331-332.
- Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch H-C, Altenmüller E, Münchau A, Lohmann K, Klein C. A heteroyzgous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008;7:380-381.
- DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint/Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Dhinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet 2008;124:95-99.
- Reetz K, Lencer R, Steinlechner S, Gaser C, Hagenah J, Büchel C, Petersen D, Kock N, Djarmati A, Siebner HR, Klein C, Binkofski F. Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers. Biol Psychiatry 2008;64:241-247.
- Reetz K, Siebner HR, Gaser C, Hagenah J, Buechel C, Kasten M, Petersen D, Pramstaller PP, Klein C, Binkofksi F. Premotor Gray Matter Volume is Associated with Clinical Findings in Idiopathic and Genetically Determined Parkinson's Disease. Open Neuroimag J 2008;2:102-105.
- Facheris MF, Maniak S, Scaravilli F, Schüle B, Klein C, Pramstaller PP. Pure akinesia as initial presentation of PSP: a clinicopathological study. Parkinsonism Relat Disord 2008;14:517-519.
- Guettard E, Portnio MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008;65:1380-1385.
- Brüggemann N, Odin P, Grünewald A, Tadic V, Hagenah J, Seidel G, Lohmann K, Klein C, Djarmati A. Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;71:1294.
- Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten FG, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire M-H, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett AJ, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study. Neurology 2008;71:28-34.
- Muhle H, Neumann A, Lohmann-Hedrich K, Lohnau T, Lu Y, Winkler S, Waltz S, Fischenbeck A, Kramer PL, Klein C, Stephani U. Childhood-onset restless legs syndrome: Clinical and genetic features of 22 families. Mov Disord 2008;23:1113-1121.
- Kamm C, Fischer H, Garavaglia B, Kullmann S, Sharma M, Schrader C, Grundmann K, Klein C, Borggräfe I, Lobsien E, Nardocci N, Gasser T. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008;70:2261-2262.
- Hagenah JM, Becker B, Brüggemann N, Djarmati A, Lohmann K, Sprenger A, Klein C, Seidel G. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry 2008;79:1071-1074.
- McNicoll CF, Latourelle JC, MacDonald PhD ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker K, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson’s disease: The Gene PD Study. Mov Disord 2008;23:1596-1601.
- Healy DG, Falchi M, O’Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW, and the Worldwide LRRK2 Consortium. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: A case-control study. Lancet Neurol 2008;7:583-590.
- Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson’s disease: the GenePD study. BMC Med. 2008;6:32.
- Zschiedrich K, König IR, Brüggemann N, Kock N, Kasten M, Leenders KL, Kostic V, Vieregge P, Ziegler A, Klein C, Lohmann K. MDR1 variants and risk of Parkinson disease: Association with pesticide exposure? J Neurol 2009;256:115-120.
- Gierthmühlen J, Lienau F, Maag R, Hagenah JM, Deuschl G, Fritzer E, Klein C, Baron R, Helmchen C. Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease. J Neurol Neurosurg Psychiatry 2009;80:571-574.
- Reetz K, Gaser C, Klein C, Hagenah J, Büchel C, Gottschalk S, Pramstaller PP, Siebner HR, Binkofski F. Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson’s disease. Mov Disord 2009;24:99-103.
- Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat M-R, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Genetic association study of the P-type ATPase ATP13A2 in late onset Parkinson disease. Mov Disord 2009;24:429-433.
- van Nuenen BFL, Weiss MW, Bloem BR, Reetz K, v Eimeren T, Lohmann K, Hagenah JM, Pramstaller P, Binkofski F, Klein C, Siebner HR. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology 2009;72:1041-1047.
- Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 2009;15:425-429.
- Brüggemann N, Kock N, König IR, Rakovic A, Hagenah J, Schmidt A, Lohmann K, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C. The D216 variant in the DYT1 gene – a susceptibility factor for dystonia in familial cases? Neurology 2009;72:1441-1443.
- Schmidt A, Jabusch H-C, Altenmüller E, Hagenah J, Brüggemann N, Lohmann K, Enders L, Kramer PL, Saunders-Pullman R, Bressman SB, Münchau A, Klein C. Etiology of musician’s dystonia: familial or environmental? Neurology 2009;72:1248-1254.
- Paus S, Gadow F, Knapp M, Klein C, Klockgether T, Wüllner U. Motor complications in patients from the German Competence Network on Parkinson’s disease and the DRD3 Ser9Gly polymorphism. Mov Disord 2009;24:1080-1084.
- Hertel S, Sprenger A, Klein C, Kömpf D, Helmchen C, Kimmig H. Different saccadic abnormalities in PINK1 mutation carriers and in patients with non-genetic Parkinson’s disease. J Neurol 2009;256:1192-1194.
- Lencer R, Steinlechner S, Stahlberg J, Rehling H, Orth M, Bäumer T, Rumpf H-J, Meyer C, Klein C, Münchau A, Hagenah J. Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles. J Neurol Neurosurg Psychiatry 2009;80:1176-1179.
- Djarmati A, Schneider S, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Rakovic A, Schmidt A, Jabusch H-C, Wilcox R, Kostic VS, Siebner H, Altenmüller E, Münchau A, Ozelius L, Klein C. Mutations in the THAP1 (DYT6) and generalized dystonia with prominent spasmodic dysphonia: A genetic screening study. Lancet Neurol 2009;8:447-452.
- Netzer C, Klein C, Kohlhase J, Kubisch C. New challenges for informed consent through whole-genome array testing. J Med Genet 2009;46:495-496
- Grünewald A, Gegg ME, Taanman J-W, King RH, Kock N, Klein C, Schapira AHV. Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. Exp Neurol 2009;219:266-273.
- Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadic V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostic VS, Volkmann J, Gasser T, Klein C. ATP13A2 variants in early-onset Parkinson’s disease patients and controls. Mov Disord 2009;24:2104-2111.
- Van Nuenen BFL, van Eimeren T, van der Vegt JPM, Buhmann C, Klein C, Bloem BR, Siebner HR. Mapping preclinical compensation in Parkinson’s disease: am imaging genomics approach. Mov Disord 2009;24 Suppl 2:S703-S710.
- Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs R, Berg D, Paisan-Ruiz C. Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Foote KD, Fernandez HH, Schreiber S, Arepalli S, Zonozi R, Gwinn K, Lopez G, Chanock SJ, Schatzkin A, Park Z, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. Genome-wide assocation study reveals genetic risk underlying Parkinson’s disease. Nat Genet 2009;41:1308-1312.
- Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F. Structural imaging in the presympotmatic stage of genetically determined parkinsonism. Neurobiol Dis 2010;39:402-408.
- Pichler I, Marroni F, Lohmann K, De Grandi A, Klein C, Hicks AA, Pramstaller PP. Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). Am J Med Genet B Neuropsychiatr Genet 2010;153B:350-355.
- Steinlechner S, Klein C, Moser A, Lencer R, Hagenah J. Botulinum toxin B as an effective and safe treatment for neuroleptic-induced sialorrhea. Psychopharmacology (Berl). 2010;207:593-597.
- Walter M, Bonin M, Saunders-Pullman R, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis, 2010;38:192-200.
- Eggers C, Schmidt A, Hagenah J, Brüggemann N, Klein JC, Tadic V, Kertelge L, Binkofski F, Siebner H, Neumaier B, Fink GR, Hilder R, Klein C. Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. Neurology 2010;74:1798-1805
- Verleger R, Hagenah J, Weiss M, Ewers T, Heberlein I, Pramstaller P, Siebner HR, Klein C. Responsiveness to distracting stimuli, though increased in Parkinson’s disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers. Neuropsychologia 2010;48:467-476.
- Svetel M, Ozelius LJ, Buckley A, Lohmann K, Brajkovic L, Klein C, Kostic VS. Rapid-onset dystonia-parkinsonism: case report. J Neurol 2010;257:472-474.
- Gierthmühlen J, Schumacher S, Deuschl G, Fritzer E, Klein C, Baron R, Helmchen C. Somatosensory function in asymptomatic Parkin-mutation carriers. Eur J Neurol 2010;17:513-517.
- Weissbach A, Djarmati A, Klein C, Dragasevic N, Zühlke C, Rakovic A, Guzvic M, Butz E, Tönnies H, Siebert R, Petrovic I, Svetel M, Kostic VS, Lohmann K. Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15. Mov Disord 2010;25:1577-1582.
- Marras C, Klein C, Lang AE, Wakutani Y, Moreno D, Sato C, Yip E, Munhoz R, Lohmann K, Djarmati A, Bi A, Rogaeva E. LRRK2 and Parkin muations in a family with parkinsonism – lack of genotype-phenotype correlation. Neurobiol Aging 2010;31:721-722.
- Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV Hauke J, Hahnen E, Gonzalez R, Seleme N, Fernandez V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A. Clinical spectrum of Kufor Rakeb Syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010;25:1929-1937.
- Spuler S, Krug H, Klein C, Medialdea IC, Jakob W, Ebersbach G, Gruber D, Hoffmann K-T, Trottenberg T, Kupsch A. Myopathy causing camptocormia in idiopathic Parkinson’s disease: a multidisciplinary approach. Mov Disord 2010;25:552-559.
- Kasten M, Weichert C, Lohmann K, Klein C. Clinical and demographic characteristics of PINK1 mutation carriers – A meta-analysis. Mov Disord 2010;25:952-954.
- Paus S, Gadow F, Kaut O, Knapp M, Klein C, Klockgether T, Wüllner U. Tremor in Parkinson’s disease is not associated to the DRD3 Ser9Gly polymorphism. Parkinsonism Relat Disord 2010;16:381-383.
- Hagenah J, König IR, Sperner J, Wessel L, Seidel G, Condefer K, Saunders-Pullman R, Klein C, Brüggemann N. Life-long increase of substantia nigra hyperechogenicity in transcranial sonography. Neuroimage 2010;51:28-32.
- Machner B, Klein C, Sprenger A, Baumbach P, Pramstaller P, Helmchen C, Heide W. Eye movement disorders are different in Parkin-linked and idiopathic early-onset Parkinson’s disease. Neurology 2010;75:125-128.
- van Eimeren T, Binkofski F, Buhmann C, Hagenah J, Strafella A, Pramstaller PP, Siebner HR, Klein C. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson’s disease. Parkinsonism Relat Disord 2010;16:384-387.
- Gruber D, Kühn AA, Schoenecker T, Kivi A, Trottenberg T, Hoffmann KT, Gharabaghi A, Kopp UA, Schneider GH, Klein C, Asmus F, Kupsch A. Pallidal and thalamic deep brain stimulation in myoclonus-dystonia. Mov Disord 2010;25:1733-1743.
- Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Hum Mol Genet 2010;19:3124-3137.
- Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AHV, Pramstaller PP, Sue CM, Klein C. Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS One 2010;5:e12962.
- Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, Eckerle S, Bähre M, Münchau A, Djarmati A, van der Vegt J, Siebner H, Binkofski F, Ramirez A, Behrens MI, Klein C. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol 2010;67:1357-1363.
- Klebe S, Thier S, Lorenz D, Nothnagel M, Schreiber S, Klein C, Hagenah J, Kasten M, Gasser T, Deuschl G, Kuhlenbäumer G. LINGO1 is not associated with Parkinson’s disease in German patients. Am J Med Genet B Neuropsychiatr Genet 2010;153B:1173-1178.
- Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores g, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S. Gaucher disease ascertained through a Parkinson’s center: Imaging and clinical characterization. Mov Disord 2010;25:1364-1372.
- Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, Drude L, van der Vegt J, Siebner H, Pawlack H, Pramstaller PP, Behrens MI, Ramirez A, Reichel D, Buhmann C, Hagenah J, Klein C, Lohmann K, Kasten M. Impaired sense of smell and color discrimination in mongenic and idiopathic Parkinson’s disease. Mov Disord 2010;25:2665-2669.
- Kasten M, Brüggemann N, Schmidt A, Klein C. Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease. Neurology 2010;75:478.
- Brüggemann N, Schneider SA, Sander T, Klein C, Hagenah J. Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification. Mov Disord 2010;25:2661-2664.
- Reetz K, Lencer R, Hagenah JM, Gaser C, Tadic V, Walter U, Wolters A, Steinlechner S, Zühlke C, Brockmann K, Klein C, Rolfs A, Binkofski F. Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum 2010;9:210-217.
- Saunders-Pullman R, Stanley K, Brüggemann N, Rayomend D, San Luciano M, Wang C, Klein C, Lubarr N, Ozelius L, Bressman SB, Hagenah J. Substantia nigra hyperechogenicity in DYT6 dystonia: A pilot study. Parkinsonism Relat Disord 2010;16:420-422.
- Stanley K, Hagenah J, Brüggemann N, Reety K, Severt L, Klein C, Yu Q, Derby C, Pullman S, Saunders-Pullman R. Digitized spiral analysis is a promising early motor marker for Parkinson disease. Parkinsonism Relat Disord 2010;16:233-234.
- Zittel S, Moll CKE, Brüggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schönweiler R, Hagenah J, Klein C, Münchau A, Schneider SA. Clinical, neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010;25:2405-2412.
- Machner B, Sprenger A, Behrens MI, Ramirez A, Brüggemann N, Klein C, Helmchen C. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord 2010;25:2687-2689.
- Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C (equal last author), Lohmann K. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;68:554-559.
- Facheris MF, Hicks AA, Minelli C, Hagenah JM, Kostic V, Campbell S, Hayward C, Volpato CB, Pattaro C, Vitart V, wright A, Campbell H, Klein C, Pramstaller P. Variation in the uric acid transporter gene SLC2A9 wand its association with AAO of Parkinson’s disease. J Mol Neurosci 2010;43:246-250.
- Kasten M, Tadic V, Klein C, Rocca WA, Savica R, Eric Ahlskog J, Grossardt BR. Anemia or low hemoglobin levels preceding Parkinson disease: a case-control study. Neurology 2010;74:1655.
- Kagi G, Klein C, Wood NW, Schneider SA, Pramstaller PP, Tadic V, Quinn NP, van de Warrenburg BP, Bhatia KP. Non-motor symptoms in parkin gene-related parkinsonism. Mov Disord 2010;25:1279-1284.
- Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clin Genet 2010;78:594-597.
- Kasten M, Kertelge K, Brüggemann N, van der Vegt J, Schmidt A, Tadic V, Buhmann C, Steinlechner S, Behrens MI, Ramirez A, Binkofski F, Siebner H, Raspe H, Hagenah J, Lencer R, Klein C. Nonmotor symptoms in genetic Parkinson disease.Arch Neurol 2010 vol. 67:p.670-676
- Opladen T, Hoffmann GF, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf NI. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord 2011;26:157-161.
- Krüger R, Sharma M, Riess O, Gasser T, van Broeckhoven C, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska/Myga B, Klein C, Lesage S, Lin J-J, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Theuns J, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM. A large-scale genetic association study to evaluate the contributaion of Omi/HtrA2 (PARK13) to Parkinson’s disease. Neurobiol Aging 2011;32:548.e9-18.
- Ramirez A, Ziegler A, Winkler S, Kottwitz J, Giesen R, Diaz-Grez F, Miranda M, Venegas P, Godoy OT, Avello R, Behrens MI, Klein C, Segura-Aguilar, Lohmann K. Association of Parkinson disease to PARK16 in a Chilean sample. Parkinsonism Relat Disord 2011;17:70-71.
- Reetz K, Kleiman A, Klein C, Lencer R, Zühlke C, Brockmann K, Rolfs A, Binkofski F. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: A VBM study. PLoS One 2011;6:e15125.
- Schmidt A, Jabusch H-C, Altenmüller E, Enders L, Saunders-Pullman R, Bressman SB, Münchau A, Klein C, Hagenah J. Phenotypic spectrum of musician’s dystonia: A task-specific disorder? Mov Disord 2011;26:546-549.
- Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord 2011;26:858-861.
- Elbaz A, Ross OA, Ioannidis JPA, Soto-Ortolaza, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin M-C, Destée A, Ferrarese C, Ferraris A, Gibson M, Suzana Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert J-C, Lohmann K, van de Loo S, Loriot A-M, Lynch T, MD, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, MD, PhD, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ on behalf of the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium. Independent and joint effects of the MAPT and SNCA genes in Parkinson’s disease. Ann Neurol 2011;69:778-792.
- Brüggemann N, Würfel J, Petersen D, Klein C, Hagenah J, Schneider SA. Idiopathic NBIA – clinical spectrum and transcranial sonography findings. Eur J Neurol 2011;18:e58-9.
- Enders L, Spector JT, Altenmüller E, Schmidt A, Klein C, Jabusch H-C. Musician’s dystonia and comorbid anxiety: two sides of one coin? Mov Disord 2011;26:539-542.
- Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R. Substantia nigra hyperechogenicity with LRRK2 G2010S mutations. Mov Disord 2011;26:885-888.
- Fong CY, Rolfs A, Schwarzbraun T, Klein C, O’Callaghan FJK. Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation. Eur J Paediatr Neurol 2011;15:271-275.
- Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C. Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. PLoS One 2011;6:e16746.
- Seibler P, Graziotto J, Heong H, Simunovic F, Klein C, Krainc D. Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells. J Neurosci 2011;31:5970-5976.
- Kasten M, Brüggemann N, König I, Doerry K, Steinlechner S, Wenzel L, Lohmann K, Klein C, Lencer R. Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility. Psychopharmacology (Berl) 2011;214:729-736.
- Hagenah J, König IR, Kötter C, Seidel K, Klein C, Brüggemann N. Basal ganglia hyperechogenicity does not distinguish between patients with primary dystonia and healthy individuals. J Neurol 2011;258:590-595.
- Steinlechner S, Brüggemann N, Sobottka V, Benthien A, Behn B, Klein C, Schmid G, Lencer R. Restless legs syndrome as a possible predictor for psychiatric disorders in parents of children with ADHD. Eur Arch Psychiatry Clin Neurosci 2011;261:285-291.
- Rakovic A, Grünewald A, Voges L, Hofmann S, Orolicki S, Lohmann K, Klein C. PINK1-interacting proteins: Proteomic analysis of overexpressed PINK1. Parkinson’s Dis. 2011;2011:153979.
- Marras C, Schuele B, Munhoz RP, Rogaeva EA, Langston JW, Kasten M, Meaney C, Klein C, Wadia PM, Lim S-Y, Chuang R S-I, Zadikoff C, Steeves T, Prakash KM, de Bie RMA, Adeli G, Thomsen T, Johansen K, Teive H, Asante A, Reginold W, Lang AE. Phenotype in parkinsonian and non-parkinsonian LRRK2 G2019S mutation carriers. Neurology 2011;77:325-333.
- Schiebler S, Schmidt A, Zittel S, Bäumer T, Gerloff C, Klein C, Münchau A. Arm tremor in cervical dystonia – is it a manifestation of dystonia or essential tremor? Mov Disord 2011;26:1789-1792.
- Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, Pahnke J, Gasser T, Volkmann J, Münchau A, Hagenah J, Benecke R, Klein C, Lohmann K. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. Mov Disord 2011;26:2136-2137.
- Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodriguez MC, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G., Klein C, Lohmann K, Kaiser FJ. Truncating mutations in THAP1 define the nuclear localization signal. Mov Disord 2011;26:1565-1567.
- Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Broeckhoven CV, Chartier-Harlin M-C, Destree A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert J-C, Lang AE, Mellick GD, Nigris FD, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson disease. Neurobiol Aging 2011;32:2108e1-5.
- Arif B, Grünewald A, Amara F, Ramirez A, Arif A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Akbar M, Klein C, Naz S. An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs and limited speech. Mov Disord 2011;26:2279-2283.
- Ross O, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, van Broeckhoven C, Carr J, Chartier-Harlin M-C, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Fibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JPA, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin C-H, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburg PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefelt K, Wszolek ZK, Wu R-M, Farrer MJ. Association of LRRK2 exonic variants with susceptibility to Parkinson’s disease: a case-control study. Lancet Neurol 2011;10:898-908.
- Abramov A, Gegg M, Hardy J, Wood NW, Klein C, Schapira AH. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS One 2011;6:e25622.
- Lopez-Laso E, Sanchez-Raya A, Moriana-Elvira JA, Martinez-Güal, Camino-Leon R, Mateos-Gonzalez ME, Perez-Navero JL, Sepulveda JJO, Ormazabal A, Opladen T, Klein C, Lao-Villadoniga JI, Artuch R. Neuropsychological symptoms and intelligence quotient in autosomal dominant Segawa disease. J Neurol 2011;258:2155-2162.
- Klein C, Chuang R, Marras C, Lang AE. The curious case of phenocopies in families with genetic Parkinson’s disease. Mov Disord 2011;26:1793-1802.
- Djarmati A, Brüggemann N, Espay AJ, Bhatia KP, Klein C. A novel DCC mutation and genetic heterogeity in congenital mirror movements. Neurology 2011;77:1580.
- Heinitz S, Klein C, Djarmati A. The p.S77N PARL protein mutation is not a frequent cause of early-onset Parkinson’s disease. Mov Disord 2011,26:2441-2442.
- Zittel S, Bäumer T, Brüggemann N, Gerloff C, Klein C, Münchau A. Paroxysmal cervical myoclonus. Mov Disord 2011;26:2445-2446.
- van Es M, Schelhaas HJ, van Vught PWJ, Ticozzi N, Andersen PM, Groen EJN, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BFL, van Blitterswijk M, van Rheenen W, Wills A-M, Lowe PP, Hu G-F, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, van Damme P, Lemmens R, Dahlberg C, Birve A, Fernandez-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EAM, Cuppen E, Berg D, Bronw Jr RH, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PIW, Landers JE, van de Warrenburg BP, van den Berg LH. Angiogenin mutations in Parkinson’s disease and amyotrophic lateral sclerosis. Ann Neurol 2011;70:964-973.
- Klein C. The Wilson films – Huntington’s chorea – Case 9. Mov Disord 2011;26:2464-2466.
- Wilcox RA, Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. Mov Disord 2011;26:2404-2408.
- Kostic VS, Lukic-Jecmenica M, Novakovic I, Dobricic V, Brajkovic L, Krajinovic M, Klein C, Pavlovic A. Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia classification. J Neurol 2011;258:1637-1642.
- Klein C, Hagenah J, Landwehrmeyer B, Münte T, Klockgether T. Das präsymptomatische Stadium neurodegenerativer Erkrankungen. Der Nervenarzt 2011;82:994-1001.
- Nery FC, Armata IA, Farley JE, Cho JA, Yaqub U, Chen P, da Hora CC, Wang Q, Tagaya M, Klein C, Tannous B, Caldwell KA, Caldwell GA, Lencer WI, Ye Y, Breakefield XO. TorsinA participates in endoplasmic reticulum-associated degradation. Nat Commun 2011;2:393.
- Palada V, Terzic J, Mazzulli J, Bwala G, Hagenah J, Peterlin B, Hung AY, Klein C, Krainc D. Histamine N-methyltransferase Thr105Ile Polymorphism is associated with Parkinson's disease. Neurobiol Aging 2012;33:836.e1-3.
- Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn A, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 2012;20:171-175.
- Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Charbonnier-Beaupel F, Corvol JC, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet 2012;90:301-307.
- Marras C, Lohmann K, Lang AE, Klein C. Fixing the broken system of genetic locus symbols: Parkinsonism and dystonia as examples. Neurology 2012;78:1016-1024.
- Anders S, Sack B, Pohl A, Münte T, Pramstaller P, Klein C, Binkofski F. Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele. Brain 2012;135:1128-1140.
- Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide B-M M, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hil-Burns EM, Klein C, Latourelle J, Maraganore DM, Martin E, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Kefansson K, Singleton AB, Toda T, Tung JY, Vance J, Wood N, Zabetian, 23and Me Inc., The Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium, The International Parkinson’s Disease Genomics Consortium (IPDGC), The Parkinson’s Dissease GWAS Consortium, The Wellcome Trust Case Control Consrotium 2 (WTCCC2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JPA, Bertram L. Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene Database. PLoS Genet 2012;8:e1002548.
- Zittel S, Kroeger J, van der Vegt JPM, Siebner HR, Brüggemann N, Ramirez A, Behrens MI, Gerloff C, Bäumer T, Klein C, Münchau A. Motor pathway exitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study. Parkinsonism Relat Disord 2012;18:590-594.
- Schmidt A, Altenmüller E, Jabusch H-C, Lee A, Wiegers K, Klein C, Lohmann K. The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician’s dystonia. Parkinsonism Rel Disord 2012;18:690-691.
- Grünewald A, Arns B, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. Neurobiol Aging 2012;33:1843.e1-7.
- Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tonnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C. Autosomal dominant Parkinson’s disease in a large German pedigree. Acta Neurol Scand 2012;126:129-137.
- Schmidt A, Kumar KR, Redyk K, Grünewald A, Leben M, Münchau A, Sue CM, Hagenah J, Hartmann H, Lohmann K, Christen H-J, Klein C. Two faces of the same coin: Benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. Arch Neurol 2012;69:668-670.
- Richter J, Appenzeller S, Ammerpohl O, Deuschl G, Paschen S, Brüggemann N, Klein C, Kuhlenbäumer G. No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients. Mov Disord 2012;27:590-591.
- Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. Arch Neurol 2012;69:1071-1075.
- Appenzeller S, Thier S, Papengut F, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Schreiber S, Deuschl G, Kuhlenbäumer G. No association between NOD2 variants and Parkinson's disease. Mov Disord 2012;27:1191-1192.
- Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc Natl Acad Sci U S A 2012;109:9611-9616.
- Kasten M, Heinzow B, Vieregge P, Klein C. Reply to: “Polychlorinated biphenyls in prospectively collected serum and Parkinson’s disease risk“. Mov Disord 2012;27:1652-1658.
- Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O. Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with familial Parkinson’s disease. Sci Transl Med 2012;4:141ra90.
- Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA. Phenotypes and genetic architecture of focal primary torsion dystonia. J Neurol Neurosurg Psychiatry 2012;83:1006-1011.
- Schmitt I, Wüllner U, van Rooyen JP, Khazneh H, Becker J, Volk A, Kubisch C, Becker T, Kostic VS, Klein C, Ramirez A. Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression. Eur J Hum Genet 2012;20:1265-1269.
- Göbel A, Macklin EA, Winkler S, Betensky RA, Klein C, Lohmann K, Simon DK. Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes. J Neurol 2012;259:2503-2505.
- Dehay B, Martinez-Vicente M, Ramirez A, Perier C, Klein C, Vila M, Bezard E. Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove. Autophagy 2012;8:1389-1391.
- Schneider SA, Drude L, Kasten M, Klein C, Hagenah J. A study of subtle motor signs in early Parkinson’s disease. Mov Disord 2012;27:1563-1566.
- Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostic VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Frequency of the D620N mutation in VPS35 in Parkinson´s disease. Arch Neurol 2012;69:1360-1364.
- Wortmann SB, Vaz FM, Gardeitschik T, Vissers LELM, Renkema GH, Schuurs-Hoeijmakers JHM, Kulik W, Lammens M, Christin C, Kluijtmans LAJ, Rodenburg RJ, Nijmans LGJ, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal K, Rumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JAM, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer APM. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nature Genetics 2012;44:797-802.
- Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K. Exome sequencing in a family with restless legs syndrome. Mov Disord 2012;27:1686-1689.
- Hilker R, Pilatus U, Eggers C, Hagenah J, Roggendorf, Baudrexel S, Klein JC, Neumaier B, Fink GR, Steinmetz H, Klein C, Hattingen E. The bioenergetics status relates to dopamine neuron loss in familial PD with PINK1 mutations. PLoS One 2012;7:e51308.
- Freundlieb N, Philipp S, Schneider SA, Brüggemann N, Klein C, Gerloff C, Hummel FC. No association of the BDNF val66met polymorphism with implicit associative vocabulary and motor learning. PLoS One 2012;7:e48327.
- Kasten M, Kertelge L, Tadic V, Brüggemann N, Schmidt A, van der Vegt J, Siebner H, Buhmann C, Lencer R, Kumar KR, Lohmann K, Hagenah J, Klein C Depression and quality of life in monogenetic compared to idiopathic, early-onest Parkinson´s disease. Mov Disord 2012;27:754-759.
- Tadic V, Kasten M, Brüggemann N, Stiller S, Hagenah J, Klein C. Dopa-responsive dystonia revisited: Diagnostic delay, residual signs, and nonmotor signs. Arch Neurol 2012;69:1558-1562.
- Kumar K, Ramirez A, Gobel A, Kresojevic N, Svetel M, Lohmann K, Sue C, Rolfs A, Mazzulli J, Alcalay R, Krainc D, Klein C, Kostic V, Grunewald A. Glucocerebrosidase mutations in a Serbian Parkinson’s disease population. Eur J Neurol 2013;20:402-405.
- Kasten M, Hagenah J, Graf J, Peters E, Katalinic A, Raspe H, Klein C. Cohort Profile: A population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK). Int J Epidemiol 2013;42:128-128k.
- Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C. Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. J Biol Chem 2013;288:2223-2237.
- Agosta F, Kostic VS, Davidovic K, Kresojevic N, Sarro L, Svetel M, Stankovic I, Corni G, Klein C, Filippi M. White matter abnormalities in Parkinson’s disease patients with glucocerebrosidase gene mutations. Mov Disord 2013;28:772-778.
- Weissbach A, Kasten M, Grünewald A, Brüggemann N, Trillenberg P, Klein C, Hagenah J. Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia. Parkinsonism Relat Disord 2013;19:422-425.
- Kresojevic N, Mijajlovic M, Peric S, Pavlovic A, Svetel M, Jankovic M, Dobricic V, Novakovic I, Lakocevic MB, Klein C, Kostic VS. Transcranial sonography in patients with Parkinson’s disease with glucocerebrosidase mutations. Parkinsonism Relat Disord 2013;19:431-435.
- Alvarez-Fischer D, Noelker C, Vulinovic F, Grünewald A, Chevarin C, Klein C, Oertel WH, Hirsch EC, Michel PP, Hartmann A. Bee venom and its component apamin as neuroprotective agents in a Parkinson disease mouse model. PLoS One 2013;8:e61700.
- Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol 2013;70:783-787.
- Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. X-linked dystonia-parkinsonism manifesting in a female patient due to atypical Turner syndrome. Mov Disord 2013;28:675-678.
- Klebe S, Golmard JL, Nalls M, Saad M, Singleton A, Bras J, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC.The Val158Met COMT polymophism is a modifier of the age at onset in Parkinson´s disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry 2013;84:666-673.
- Mastroeni C, Bergmann TO, Rizzo V, Ritter C, Klein C, Pohlmann I, Brueggemann N, Quartarone A, Siebner HR. Brain-derived neurotrophic factor – a major player in stimulation-induced homestatic metaplasticity of human motor cortex? PLoS One 2013;8:e57957.
- Van der Salm SM, de Haan RJ, Cath DC, van Rootselaar AF, Tijssen MA (C Klein listed as collaborator). The eye of the beholder: inter-rater agreement among experts on psychogenic jerky movement disorders. J Neurol Neurosurg Psychiatry 2013;84:742-747.
- Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park J-S, Arns B, Lohnau T, Groen JL, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld APM, Sue CM, Tijssen MAJ, Klein C. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013;73:537-545.
- Appenzeller S, Schulte C, Their S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbäumer G. No association between polymorphisms in the glutatmate transporter SLC1A2 and Parkinson disease. Mov Disord 2013;28:1305-1306.
- Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 2013;34:2694.e19-20.
- Schmidt A, Jabusch H-C, Altenmüller E, Kasten M, Klein C. Challenges of making music: What causes musician’s dystonia? JAMA Neurol 2013;70:1456-1459.
- Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grünewald A, Gölnitz U, Savyuk V, Rolfs A, Klein C, Sue CM. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol 2013;260:2516-2522.
- Grünewald A, Kasten M, Ziegler A, Klein C. Next generation phenotyping using the Parkin example: Time to catch up with genetics. JAMA Neurol 2013;70:1186-1191.
- Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, Gomes da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mae M, Rasachperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind D, Coppola G, Betsholtz C, Klein C (equal last author), Oliverira JRM. PDGFB mutations cause brain calcifications in humans and mice. Nat Genet 2013;45:1077-1082.
- Kasten M, Grünewald A, Klein C. Next-generation phenotyping and genomic incidental findings – reply. JAMA Neurol 2013;70:1590-1591.
- Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; on behalf of the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium. Mov Disord 2013;28:1740-1744.
- Mollenhauer B, Trautmann E, Sixel-Döring, Wicke T, Ebentheuer J, Schaumburg M, Lang E, Focke NK, Kumar K, Lohmann K, Klein C, Schlossmacher M, Kohnen R, Friede T, Trenkwalder C. Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort. Neurology 2013;81:1226-1234.
- Trilck M, Hubner R, Seibler P, Klein C, Rolfs A, Frech M. Niemann-Pick Type C1 patient-specific induced pluripotent stem cells display disease-specific hallmarks. Orphannet J Rare Dis 2013;8:144
- Zanon A, Rakovic A, Blankenburg H, Doncheva NT, Schwienbacher C, Serafin A, Alexa A, Weichenberger CX. Albrecht, Klein C, Hicks AA, Pramstaller PP, Domingues FS, Pichler I. Profiling of Parkin-binding partners using tandem affinity purification. PLoS One 2013;8:e78648.
- Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 2014;261:207-212.
- Brüggemann N, Stiller S, Tadic V, Kasten M, Münchau A, Graf J, Klein C, Hagenah J. Non-motor phenotype of dopa-responsive dystonia and quality of life assessment. Parkinsonism Rel Disord 2014;20:428-431.
- Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic V, Sue C, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemzanov KA, Schmidt A. Mutations in GNAL: A Novel Cause of Craniocervical Dystonia. JAMA Neurol 2014;71:490-494.
- Winkler S, Vollstedt E-J, Kasten M, Alvarez-Fischer D, Klein C, Lohmann K. The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson disease. J Neurol 2014;261:833-834.
- Morais VA, Haddad D, Craessaerts K, De Bock P-J, Swerts J, Vilain S, Aerts L, Overbergh L, Grünewald A, Seibler P, Klein C, Gevaert K, Verstreken P, De Strooper B. PINK1 loss of function mutations affect Complex I activitz via NdufA10 ubiquinone uncoupling. Science 2014;344:203-207.
- Grünewald A, Arns B, Meiner B, Brockmann K, Tadic V, Klein C. Does Uncoupling Protein 2 expression qualify as marker of disease status in LRRK2-associated PD? Antioxid Redox Signal 2014;20:1955-1960.
- Koschmidder E, Mollenhauer B, Kasten M, Klein C, Lohmann K. Mutations in VPS26A are not a frequent cause of Parkinson’s disease. Neurobiol Aging 2014;35:1512.e.1-2.
- Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging. 2014;35:266.e5-14.
- Lohmann K, Klein C. The many faces of TUBB4A mutations. Neurogenetics 2014;15:81-82.
- Lohmann K, Schmidt A, Schillert A, Winkler S. Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gomez-Garre, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch H-C, Kaji R, Kasten M, Kawakami H, Kostic VL, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MAJ, Valente E-M, Weltenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C. Genome-wide association study in musician’s dystonia: a risk variant at the arylsulfatase G locus? Mov Disord 2014;29:921-927.
- Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Reply: dystonia after severe head injuries. Mov Disord. 2014;29:578-579.
- Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P. Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. Hum Mutat. 2014;35:1114-1122.
- Deuse T, Hua X, Wang D, Maegdefessel L, Heeren J, Scheja L, Bolanos JP, Rakovic A, Spin JM, Stubbendorff M, Ikeno F, Länger F, Zeller T, Schulte-Uentrop L, Stöhr A, Itagaki R, Haddad F, Eschenhagen T, Blankenberg S, Kiefmann R, Reichenspurner H, Velden J, Klein C, Yeung A, Robbins RC, Tsao PS, Schrepfer S. Dichloroacetate prevents restenosis in preclinical animal models of vessel injury. Nature 2014;509:641-644.
- Dobricic V, Kresojevic N, Westenberger A, Svetel M, Tomic A, Ralic V, Petrovic I, Lukic MJ, Lohmann K, Novakovic I, Klein C, Kostic VS. De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. Mov Disord 2014;29:1190-1193.
- Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C. Novel GNAL mutations in two German patients with sporadic dystonia. Mov Disord. 2014;29:1833-1834.
- Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RDG, Rosales RL, Klein C, Westenberger A. Case report of a female with X-linked recessive dystonia-parkinsonism: a clue to the epidemiology of parkinsonism in Filipino women? JAMA Neurol 2014;71:1177-1180.
- Ebrahimi-Fakhari D, Kang KS, Kotzaeridou U, Kohlhase J, Klein C, Assmann BE. Child Neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology 2014;83:1680-1683.
- Domingo A, Schmidt T, Barcelon E, Lukban M, Westenberger A, Klein C. X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. J Neurol 2014;261:2225-2227.
- von Otter M, Bergström P, Quattrone A, De Marco E, Annesi G, Söderkvist P, Wettinger S, Drozdzik M, Bialecka M, Nissbrandt H, Klein C, Nilsson M, Hammarsten O, Nilsson S, Zetterberg H. Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease – a multicenter study. BMC Med Genet 2014;15:131.
- Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Kruger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva EA, Xi Z, Lang EA, Klein C, Weissbach A, Mellick GD, Silburn P, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly JO, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G, Ledoux M, Pfeiffer RF, Boczarska – Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 2014;83:1906-1913
- Munsie LN, Milnerwood AJ, Seibler P, Beccano-Kelly DA, Tartarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ. Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson’s Disease VPS35 mutation p.D620N. Hum Mol Genet 2015;24:1691-1703.
- Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk S, Haack TB, Gersting S, Muntau A, Rakovic A, Renkema GH, Rodenburg R, Storm TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MAAP, de Brouwer APM, Prokisch H, Katsanis N, Wevers RA. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. Am J Hum Genet. 2015;96:245-257.
- Huttenlocher J, Krüger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P. EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. J Med Genet 2015;52:37-41.
- Tunc S, Graf J, Tadic V, Brüggemann N, Schmidt A, Al-Khaled M, Wolff S, Vollstedt EJ,Lorwin A, Hampf J, Piskol L, Klein C, Hagenah J, Kasten M. A population-based study on combined markers for early Parkinson disease. Mov Disord 2015;30:531-537.
- Nürnberger L, Klein C, Baudrexel S, Roggendorf J, Hildner M, Chen S, Kang J, Hilker R, Hagenah J. Ultrasound-based motion analysis reveals bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers. Mov Disord 2015;30:386-392.
- Brüggemann N, Kühn AA, Schneider S, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon Y, Zittel S, Wächter T, Deuschl G, Kruger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology 2015;84:895-903
- Sixel-Döring F, Lohmann K, Klein C, Trenkwalder C, Mollenhauer B. REM sleep-associated motor behaviours in Parkinson disease patients with heterozygous Parkin mutations. Mov Disord;30:597-598.
- Weissbach A, Bäumer T, Rosales R, Lee LV, Brüggemann N, Domingo A, Westenberger A, Jamora RD, Diesta CC, Brandt V, Tadic V, Zittel S, Klein C, Münchau A. Neurophysiological fingerprints of X-linked dystonia-parkinsonism ¬ a model basal ganglia disease. Mov Disord 2015;30:873-875.
- Kasten M, Klein C. Genetic risk loci for Parkinson's disease: Moving from state to trait? Mov Disord 2015; 30:747-749.
- Rakovic A, Seibler P, Klein C. iPS models of Parkin and PINK1. Biochem Soc Trans. 2015;43:302-307.
- Vos M, Verstreken P, Klein C. Stimulation of electron transport as potential novel therapy in Parkinson's disease with mitochondrial dysfunction. Biochem Soc Trans. 2015;43:275-279.
- Freundlieb N, Backhaus W, Brüggemann N, Gerloff C, Klein C, Pinnschmidt HO, Hummel FC. Differential effects of BDNF val66met in repetitive associative learning paradigms. Neurobiol Learn Mem. 2015;123:11-17.
- Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia. Am J Hum Genet 2015;96:938-947.
- Kresojević N, Janković M, Petrović I, Kumar KR, Dragašević N, Dobričić V, Novaković I, Svetel M, Klein C, Pekmezović T, Kostić VS. Presenting symptoms of GBA-related Parkinson's disease. Parkinsonism Relat Disord. 2015;21:804-807.
- Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol 2015;72:460-467.
- Tronnier VM, Domingo A, Moll CK, Rasche D, Mohr C, Rosales R, Capetian P, Jamora RD, Lee LV, Münchau A, Diesta CC, Tadic V, Klein C, Brüggemann N, Moser A. Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism. Parkinsonism Relat Disord. 2015;21:954-959.
- Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-dela Paz EM, Freimann K, Schmidt TGPM, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. New Insights into the Genetics of X-Linked Dystonia-Parkinsonism (XDP, DYT3). Eur J Hum Genet 2015;23:1334-1340.
- McCann H, Fung VSC, Klein C, Halliday GM. Unusual α-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation. Neuropathol Appl Neurobiol 2015;41:837-842.
- Morrison M, Klein C, Clemann N, Collier DA, Hardy J, Heiβerer B, Cader MZ, Graf M, Kaye J. StemBANCC: Governing Access to Material and Data in a Large Stem Cell Research Consortium. Stem Cell Rev. 2015; 11:681-687.
- Mencacci NE, Ribibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, Wood NW. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet. 2015;24:5326-5329.
- Wang LY, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschlaender A, Eckstein G, Farrer M, Goldwurm S, Garraux G,,Hadjigeorgiou G, Hicks A, Hattori N, Klein C, Jeon B, Kim JY, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang A, Mok V, Jasinka-Myga B, Mellick G, Morrison K, Opala G, Pihlstrøm L, Pramstaller P, Park SS, Quattrone A, Rogeava E, Ross O, Stefanis L, Stockton J, Silburn P, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broekhoven C, Uitti R, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krueger R, Sharma M. Large Scale Assessment of Polyglutamine Repeat Expansions in Parkinson Disease. Neurology 2015;85:1283-1292.
- Zeuner K, Knutzen A, Granert O, Sablowsky S, Götz J, Wolff A, Jansen O, Dressler S, Schneider SA, Klein C, Deuschl G, van Eimeren T, Witt K. Altered brain activation in a reversal learning task unmasks adaptive changes in cognitive control in writer's cramp. Neuroimage Clin, 2015;10:63-70.
- Penamora J, Domingo A, Schmidt T, Westenberger A, Klein C, Rosales RL. First report of a Filipino with Mohr-Tranebjaerg syndrome. Mov Disord Clin Pract Mov Disord Clin Pract, 2015;2:417-419.
- Weissbach A, Bäumer T, Brüggemann N, Tadic V, Zittel S, Cheng B, Thomalla G, Klein C, Münchau A. Premotor-motor excitability is altered in dopa-responsive dystonia. Mov Disord 2015;30:1705-1709.
- Westenberger A, Klein C. A new gene for primary familial brain calcification: The importance of phosphate homeostasis. Mov Disord 2015;30:1213.
- Steinlechner S, Wenzel L, Kasten M, Tadic V, Brüggemann N, Hagenah J, Rumpf HJ, Klein C, Lencer R. Evaluation psychiatrischer Störungen anhand eines erweiterten SKID-Screenings. Fortschr Neurol Psychiatr, 2015;83:499-505.
- Schmitt I, Kaut O, Khazneh H, deBoni L, Ahmad A, Berg D, Klein C, Fröhlich H, Wüllner U. L-DOPA increases α-synuclein DNA methylation in Parkinson’s disease patients in vivo and in vitro. Mov Disord 2015;30:1794-1801.
- Erro R, Klein C. DYT2 Revealed: Hippocalcin Mutations Cause Autosomal-Recessive Isolated Dystonia. Mov Disord, 2015;30:1725.
- Kumar KR, Vulinovic F, Lohmann K, Schaake S, Sue CM, Klein C. Mutations in TUBB4A and Spastic Paraplegia. Mov Disord 2015;30:1857-1858.
- Kritzinger C, Vollstedt EJ, Hückelheim K, Lorwin A, Graf J, Tunc S, Klein C, Kasten M. Qualitative characteristics of depression in Parkinson disease and controls. Behav Neurol 2015;2015:961372.
- Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. RAB39B mutations are a rare finding in Parkinson disease patients. Parkinsonism Relat Disord 2016;23:116-117.
- Koschmidder E, Weissbach A, Brüggemann N, Kasten M, Klein C, Lohmann K. A nonsense mutation in CHCHD2 in a patient with Parkinson’s Disease. Neurology 2016;86:577-579.
- Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner CE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. The role of mutations in COL6A3 in isolated dystonia. J Neurol 2016;263:730-734.
- Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco dela-Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. Cell Mol Life Sci 2016, Cell Mol Life Sci 2016;73:3205-3215.
- Chang FCF, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JGL, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VSC. Phenotypic insights into ADCY5-associated disease. Mov Disord 2016;31:1033-1040.
- Marras C, Lang A, van de Warrenburg BP, Sue C, Tabrizi SJ, Bertram L, Lohmann K, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Klein C. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord 2016;31:436-457.
- Bäumer T, Schmidt A, Heldmann M, Landwehr M, Simmer A, Tönniges D, Münte T, Lohmann K,
Altenmüller E, Klein C, Münchau A. Abnormal interhemispheric inhibition in musician's dystonia – Trait or state? Parkinsonism Relat Disord 2016;25:33-38. - Brüggemann N, Heldmann M, Klein C, Domingo A, Rasche D, Tronnier V, Rosales RL, Jamora RD, Lee LV, Münte TF. Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. Parkinsonism Relat Disord 2016;31:91-97.
- Capetian P, Azmitia L, Pauly MG, Krajka V, Stengel, F, Bernhardi E, Klett M, Meier B, Seibler P, Stanslowsky N, Moser A, Knopp A, Gillessen-Kaesbach G, Nikkhah G, Wegner F, Döbrössy MD, Klein C. Plasmid-based generation of induced neural stem cells from adult human fibroblasts. Front Cell Neurosci 2016;10:245.
- Norris SA , Jinnah HA, Espay AJ, Klein C, Brüggemann N, Barbano RJ, Malaty I, Rodriguez RL, Vidailhet M, Roze E, Reich SG, Berman BD, LeDoux MS, Richardson SP, Agarwal P, Mari Z, Ondo W, Shih LC, Fox S, Berardelli A, Testa CM, Chang FCF, Troung D, Nahab F, Xie T, Hallett M, Rosen AR, Wright LJ, Perlmutter JS. Clinical and Demographic Characteristics Related to Onset Site and Spread of Cervical Dystonia. Mov Disord 2016;31:1874-1882.
- Klein C, Löchte T, Delamonte SM, Brænne I, Hicks AA, Zschiedrich-Jansen K, Simon DK, Friedman JH, Lohmann K. PLA2G6 mutations and parkinsonism: long-term follow-up of clinical features and neuropathology. Mov Disord 2016;31:1927-1929.
- Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”: Necessary evolution, no magic! Mov Disord 2016; 31:1760-1762.
- Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek
ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the ‘IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord 2016;31:1901-1904. - Markopoulou K, Chase BA, Robowski P, Strongosky A, Narożańska E, Sitek EJ, Berdynski M, Barcikowska M, Baker MC, Rademakers R, Sławek J, Klein C, Hückelheim K, Kasten M, Zbigniew K. Assessment of olfactory function in MAPT-associated neurodegenerative disease reveals odor-identification irreproducibility as a non-disease-specific, general characteristic of olfactory dysfunction. PLoS One 2016; 11:e0165112.
- Westenberger A, Max CM, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Alternating hemiplegia of childhood as a new presentation of Adenylate Cyclase 5-mutation-associated disease. J Pediatr 2017; 181:306-308.
- Baumann H, Wolff S, Münchau A, Hagenah JM, Lohmann K, Klein C. Evaluating the role of TMEM230 variants in Parkinson’s disease. Parkinsonism Relat Disord 2017;35:100-101.
- Weissbach A, Bäumer T, Pramstaller PP, Brüggemann N, Tadic V, Chen R, Klein C, Münchau A. Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers. Clin Neurophysiol 2017;128:275-280.
- Al-Rumayyan A, Klein C, Alfadhel M. Early-Onset Parkinsonism: Case Report and Review of the Literature. Pediatr Neurol 2017;67:102-106.
- Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites E. P., Seibler P, Rakovic A, Lohnau T, De Strooper B, Efremov R, Fendt SM, Morais V A, Klein C, Verstreken P. Cardiolipin promotes electron transport between ubiquinone and Complex-I to rescue PINK1 deficiency. JCell Biol 2017;216:695:708.
- Zittel S, Lohmann K, Bauer P, Klein C, Münchau A. Munchausen syndrome by genetics – Next-generation challenges for clinicians. Neurology 2017;88:1000-1001.
- Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timman D, Holemans T, Andreeva A, Reichbauer J, Chang D-I, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 2017;140:287-305.
- Simon DK, Wu C, Tilley BC, Lohmann K, Klein C, Payami H, Wills A-M, Aminoff MJ, Bainbridge J, Dewey R, Hauser RA, Schaake S, Schneider JS, Sharma S, Singer C, Tanner CM, Truong D, Wei P, Wong PS, Yang T. Caffeine, creatine, GRIN2A and Parkinson’s disease progression. J Neurol Sci 2017;375:355-359.
- Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D. Sonographic alteration of substantia nigra is related to parkinsonismpredominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord 2017;37:43-49.
- Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Striosomal dysfunction affects behavioral adaptation but not impulsivity – evidence from XDP. Mov Disord 2017;32:576-584.
- Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Sci Rep 2017;7:41156.
- Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G,Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. Hum Mol Genet 2017;26:1078-1086.
- Brüggemann N, Rosales R, Waugh J, Blood A, Domingo A, Heldmann M, Jamora RD, Münchau A, Münte T, Lee L, Buchmann I, Klein C. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. Eur J of Neurol 2017;24:680-686.
- Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S. A novel APTX variant and ataxia with oculomotor apraxia type 1. J Clin Neurol 2017;13:303-305.
- Tadic V, Klein C, Hinrichs F, Münchau A, Lohmann K, Brüggemann N. CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia. J Neurol 2017;264:1008-1010.
- Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler. SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction due to Parkin loss in human iPSC and Drosophila models. Hum Mol Gen 2017;13:2412-2425.
- Steinlechner S, Hagenah J, Rumpf H, Meyer C, John U, Bäumer T, Brüggemann N, Kasten M, Münchau A, Klein C, Lencer R. Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease. J Neurol 2017;246:1076-1084.
- Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T. Facial twitches in ADCY5-associated disease – Myokymia or myoclonus? An electromyography study. Parkinsonism Relat Disord 2017;40:73-75.
- Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force. Mov Disord 2017;32:724-725.
- Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord 2017;41:118-120.
- Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol 2017;74:806-812.
- Zittel S, Alvarez-Fischer D, Schweiger U, Klein C, Münchau A. Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians. Neurology 2017;89:307.
- Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism. Cereb Cortex 2017;13:1-10.
- Shamir R,Klein C (equally contributing), Amar D, Vollstedt EJ, Bonin M, Usenovic M, Wong YC, Maver A, Poths S, Safer H, Corvol JC, Lesage S, Lavi O, Deuschl G, Kuhlenbaeumer G, Pawlack H, Ulitsky I, Kasten M, Riess O, Brice A, Peterlin B, Krainc D. Analysis of blood-based gene expression in idiopathic Parkinson disease, Neurology. Neurology. 2017;89:1676-1683.
- Wagner J, Vulinović F, Grünewald A, Unger MM, Möller JC, Klein C, Michel PP, Ries V, Oertel WH, Alvarez-Fischer D. Acylated and unacylated ghrelin confer neuroprotection to mesencephalic neurons. Neuroscience 2017;365:137-145.
- Prasuhn J, Piskol L, Vollstedt EJ, Graf J, Schmidt A, Tadic V, Tunc S, Hampf J, Warrlich E, Bibergeil C, Hagenah J, Klein C, Kasten M, Brüggemann N. Non-motor symptoms and quality of life in subjects with mild parkinsonian signs. Acta Neurol Scand 2017;136:495-500.
- Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding. Brain Struct Funct 2017;222:3807-3817.
- Weissbach A, König IR, Hückelheim K, Pramstaller PP, Werner E, Brüggemann N, Tadic V, Lohmann K, Bäumer T, Münchau A, Kasten M, Klein C. Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers. Parkinsonism Relat Disord 2017;42:95-99.
- Lange LM, Tunc S, Tennstedt S, Münchau A, Klein C, Assmann B, Lohmann K. A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia. Mov Disord 2017; 32:1495-1497.
- Weissbach A, Werner E, Bally JF, Tunc S, Löns S, Timmann D, Zeuner K, Tadic V, Brüggemann N, Lang A, Klein C, Münchau A, Bäumer T. Alcohol improves cerebellar-learning deficit in myoclonus-dystonia – a clinical and electrophysiological investigation. Ann Neurol 2017;82:543-553.
- Dobricic V, Tomić A, Branković V, Kresojević N, Janković M, Westenberger A, Rašić VM, Klein C, Novaković I, Svetel M, Kostić VS. GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of dopa-responsive dystonia. Parkinsonism Relat Disord 2017;45:81-84.
- Huang E, Qu D, Huang T, Rizzi N, Boonying W, Krolak D, Ciana P, Woulfe J, Klein C, Slack RS, Figeys D, Park DS. PINK1-mediated phosphorylation of LETM1 regulates mitochondrial calcium transport and protects neurons agains mitochondrial stress. Nature Comm 2017;8:1399.
- Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K. Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias. Genes (Basel) 2017;18;8(10).
- Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lillian VL, Rosales RL, Brüggemann N. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. Neuroimage Clin 2018;17:835-846.
- Heldmann M, Heeren J, Klein C, Rauch L, Hagenah J, Münte TF, Kasten M, Brüggemann N. Neuroimaging abnormalities in individuals exhibiting Parkinson’s disease risk markers. Mov Disord 2018;33:1412-1422.
- Prasuhn J, Mårtensson C, Krajka V, Klein C, Rakovic A. Genome-edited, TH-expressing neuroblastoma cells as a disease model for dopamine-related disorders: a proof-of-concept study on DJ-1-deficient parkinsonism. Front Cell Neurosci 2018;11:426.
- Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acun P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 2018;172:897-909.
- Pauly MG, Krajka V, Stengel F, Seibler P, Klein C, Capetian P. Adherent versus Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells. Front Cell Dev Biol 2018;6:3.
- Heinzel S, Kasten M, Behnke St, Vollstedt EJ, Klein C, Hagenah J, Pausch C, Heilmann R, Brockmann K, Suenkel U, Yilmaz R, Liepelt-Scarfone I, Walter U, Berg D. Age- and sex-related heterogeneity in prodromal Parkinson's disease. Mov Disord 2018;33:1025-1027.
- Park JS, Klein C, Sue CM. Single heterozygous ATP13A2 mutations cause cellular dysfunction associated with Parkinson’s disease. Mov Disord 2018;33:852-854.
- Kuseyri O, Weissbach A, Bruggemann N, Klein C, Giżewska M, Karall D, Scholl-Bürgi S, Romanowska H, Krzywińska-Zdeb E, Monavari AA, Knerr I, Yapıcı Z, Leuzzi V, Opladen T. Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders. JIMD 2018;41:849-863.
- Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins C, Lohmann K, van de Warrenburg BP, Burmeister M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol 2018;83:1075-1088.
- Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord 2018;33:1108-1118.
- Brüggemann N, Lohmann K, Paus S, Lohmann E, Gasser T, Ganos C, Klein C. Genetisch determinierte Dystonien. Nervenheilkunde 2018;37:159-166.
- Trinh J, Hüning I, Yüksel Z, Budler N, Imhoff S, Klein C, Rolfs A, Gillessen-Kaesbach G, Lohmann K. A KAT6A Variant in a Family with Autosomal Dominantly Inherited Microcephaly and Developmental Delay. J Hum Genet 2018;63:997-1001.
- Marek M, Linnepe S, Klein C, Hummel T, Paus S. High prevalence of olfactory dysfunction in cervical dystonia. Parkinsonism Relat Disord 2018;53:33-36.
- Steinlechner S, Jabusch HC, Altenmüller E, Borngräber F, Hagenah J, Klein C, Lencer R, Schmidt A. Personality profiles are different in musician’s dystonia and other isolated focal dystonias. Psychiatry Res 2018;266:26-29.
- Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord 2018;33:1056-1076.
- Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras L, Lohmann K, Lill CM, Klein C, Rakovic A, Ziegler J, Mårtensson CU, Prasuhn J, Shurkewitsch K, König P, Paulson HL, Klein C. Genotype-Phenotype Relations for the Parkinson’s Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord 2018;33:730-741.
- Valadas JS, Esposito G, Vandekerkhove D, Miskiewicz K, Deaulmerie L, Raitano S, Seibler P, Klein C, Verstreken P. ER lipid defects in neuropeptidergic neurons impair sleep patterns in Parkinson’s disease. Neuron 2018;98:1155-1169.
- Capetian P, Stanslowskyc N, Bernhardia E, Grütz K,Domingoa A, Brüggemann N, Naujockc M, Seibler P, Klein C, Wegne F. Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. Exp Neurol 2018;308:47-58.
- Sliter DA, Martinez J, Hao L, Chen X, Sun N, Fischer TD, Burman JL, Li Y, Zhang Z, Narendra DP, Cai H, Borsche M, Klein C, Youle RJ. Parkin and PINK1 mitigate STING-1 induced inflammation. Nature 2018;561:258-262.
- Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A. WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype. Neurol Genet 2018;4:e227.
- Mestre TA, Pont-Sunyer C, Kausar F, Visanji NP, Ghate T, Connolly BS, Gasca-Salas C, Kern DS, Jain J, Slow EJ, Faust-Socher A, Kasten M, Wadia PM, Zadikoff C, Kumar P, de Bie RM, Thomsen T, Lang AE, Schüle B, Klein C, Tolosa E, Marras C. Clustering of Motor and Nonmotor Traits in Leucine-Rich Repeat Kinase 2 G2019S Parkinson’s Disease Nonparkinsonian Relatives: A Multicenter Family Study. Mov Disord 2018;33:960-965.
- Salpietro V, Perez-Duenas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Mov Disord 2018;33:482-488.
- BrüggemannN, Domingo A, Rasche D, Moll CK, Rosales RL, Jamora RDG, Hanßen H, Münchau A, Graf J, Weißbach A, Tadic V, Diesta CD, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. Short- and long-term effects of pallidal neurostimulation and outcome 1 predictors in X-linked dystonia-parkinsonism. JAMA 2018;in press.
- Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A. Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants. Human Mutation 2018;39:1901-1915.
- Ohlei O, Dobricic V, Lohmann K, Klein C, Lill C, Bertram L. Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. Parkinsonism Relat Disord 2018;57:50-57.
- Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C. Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. Brain 2018;141:3052-3064.
- Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CD, Domingo A, Rosales RL, Jamora, RD, Klein C, Münte TF, Brüggemann N. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain 2018;141:2995-3008.
- Trinh J, Zeldenrust FMJ, Huang J, Kasten M, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C. Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MDSGene Systematic Review. Mov Disord 2018;33:1857-1870.
- Rakovic A, Ziegler J, Mårtensson CU, Prasuhn J, Shurkewitsch K, König P, Paulson HL, Klein C. PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion. Cell Death & Differentiation 2018;in press.
- Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A, International Parkinson's Disease Genomics Consortium (IPDGC), Klein C. Utility and implications of exome sequencing in early-onset Parkinson’s disease. Mov. Disord 2018;34:133-137.
- Sprenger A, Hanßen H, Hagedorn I, Prasuhn J, Rosales RL, Jamora RDG, Diesta CC, Domingo A, Klein C, Brüggemann N, Helmchen C. Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration. Parkinsonism Relat Disord 2018;in press.
- Klein C, Hattori N, Marras C. MDSGene: Closing data gaps in genotype-phenotype correlations of monogenic Parkinson’s disease. J Parkinsons Dis 2018;8:S25-S30.
- Chung SJ, König IR, Lohmann K, Hinrichs F, Kim J, Ryu HS, Lee HJ, Kim K, Lee JH, Jung KW, Kim MJ, Kim MJ, Kim YJ, Yun SC, Hong SM, Myung, SJ, Klein C. Association of SNCA Variants with α-Synuclein of Gastric and Colonic Mucosa in Parkinson’s Disease. Parkinsonism Relat Disord 2018;S1353-8020(18)30463-2.
- Brüggemann N, Domingo A, Rasche D, Moll CKAE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol. 2018;in press.
- Guida M, ZanonA, Montibeller L, Lavdas A, Ladurner J, Pischedda F, Rakovic A, Domingues FS, Piccoli G, Klein C, Pramstaller P, Hicks A, Pichler I. Parkin interacts with apoptosis-inducing factor and interferes with ts translocation to the nucleus in neuronal cells. International Journal of Molecular Sciences 2019;in press.
- Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. Role of ANO3 mutations in dystonia: A large-scale mutational screening study. Parkinsonism Relat Disord 2019;in press.
- Critical evaluation of the DNA-methylation markers ABCG1 and SREBF1 for type-2 diabetes stratification. Epigenomics 2019;in press.
- Klein C, Baumann H, Olschewski L, Hanssen H, Münchau A, Ferbert A, Brüggemann N, Lohmann K. De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient. Parkinsonism Relat Disord 2019;S1353-8020(19)30111-7.
- Brüggemann N, Klein C. Will genotype drive treatment options? Mov Disord 2019;in press.
- Booth H, Martin JG, Gao B, Li K, Doig N, Vowles J, Browne C, Klinger L, Juhasz P, Klein C, Cowley S, Bolam P, Hirst W, Wade-Martins R. An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2. Neurobiology of Disease 2019;in press.
- Westenberger A, Reyes C, Saranza G, Dobričić V, Hanßen H, Domingo A, Laabs B-H, Schaake S, Pozojevic J, Rakovic A, Gruetz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kasier F, Ozelius L, Jamora RD, Rosales R, Diesta C, Lohmann K, König I, Brüggemann N, Klein, C. A hexanucleotide repeat modifies expressivity of X-linked dystonia-parkinsonism. Annals of Neurology 2019;in press.
- Lim SY, Tan AH, Annuar AA, Klein C, Louis Tan CS, Rosales R, Bhidayasiri R, Wu YR, Shang HF, Evans AH, Pal KP, Hattori N, Tan CT, Jeon B, Tan EK, Lang AE. Parkinson's disease in the Western Pacific Region. Lancet Neurol 2019;9:865-879. IF 30.0
- Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C. Discordance in monozygotic Parkinson’s disease twins – continuum or dichotomy? Ann of Clin Transl Neurol 2019;6:1102-1105. IF 3.7
- Grover S, Lill CM, Kasten M, Klein C, Del Greco M F, König IR. Risky behaviors and Parkinson disease: A mendelian randomization study in up to 1 million study participants. Neurology 2019;93:e1412-1424. IF 8.8
- Borsche M, Balck A, Kasten M, Klein C, Brüggemann N. The sooner, the later – delayed diagnosis in Parkinson's disease due to Parkin mutations. Parkinsonism Relat Disord 2019;65:284-285. IF 3.9
- Hanssen H, Prasuhn J, Heldmann M, Diesta CC, Domingo A, Göttlich M, Blood AJ, Rosales RL, Jamora RDG, Münte TF, Klein C, Brüggemann N. Imaging gradual neurodegeneration in a basal ganglia model disease. Ann Neurol 2019;86:517-526. IF 9.0
- Prasuhn J, Brüggemann N, Berg D, Gasser T, Brockmann K, Olbrich D, König IR, Klein C, Kasten M. An omics-based strategy using coenzyme Q10 in patients with Parkinson’s disease: Concept evaluation in a double-blind randomized placebo-controlled parallel group trial. Neurol Res Pract 2019;1:13. IF 2.4
- Ouzren N, Delcambre S, Ghelfi J, Seibler P, Farrer MJ, König IR, Aasly JO, Trinh J, Klein C, Grünewald A. Mitochondrial DNA deletions discriminate affected from unaffected LRRK2 mutation carriers. Ann Neurol. 2019;86:324-326. IF 9.0
- Vollstedt EJ, Kasten M, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. Using global team science to identify genetic parkinson's disease worldwide. Ann Neuro 2019;86:153-157. IF 9.0
- Brüggemann N, Klein C. Will genotype drive treatment options? Mov Disord 2019;34:1294-1299. IF 8.7
- Nickels SL, Walter J, Bolognin S, Gérard D, Jaeger C, Qing X, Tisserand J, Jarazo J, Hemmer K, Harms A, Halder R, Lucarelli P, Berger E, Antony PMA, Glaab E, Hankemeier T, Klein C, Sauter T, Sinkkonen L, Schwamborn JC. Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. Parkinsonism Relat Disord 2019;67:48-55. IF 3.9
- Germer EL, Imhoff S, Vilariño-Güell C Kasten M, Seibler P, Brüggemann N, Parkinson's Disease Genomics Consortium (IPDGC), Klein C, Trinh J. The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. Front Neurol 2019;10:1284. IF 2.9
- Dulovic Mahlow M, Lukomska A, Haissatou Diaw S, Balck A, Borsche M, Grütz K, Lenz I, Rudolph F, Lohmann K, Klein C, Seibler P. Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease. Stem Cell Research 2019;41:101629. IF 4.5
- Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrarou Z, Erdmann J, Klein C, Alvarez-Fischer D. Osteoclast imbalance in primary familial brain calcification – evidence for a pivotal role in brain calcification. Brain 2020;143:e1. IF 13.5
- Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS. Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. J Neurol Neurosurg Psychiatry 2020;91:314-320. IF 10.2
- Mainka T, Biskup S, Kühn AA, Klein C, Lohmann K, Ganos C. Importance of tissue selection for genetic testing: Detection of a terminal 18q deletion after stem cell transplantation. Mov Disord Clin Pract 2020;7:453-455. IF 1.86
- Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Private variants in PRKN are associated with late-onset Parkinson's disease. Parkinsonism Relat Disord 2020;75:24-26. IF 4.9
- Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D. Don’t do harm by diagnosis – An abnormal cranial CT: Still fa(h)r from a disease. Parkinsonism and Related Disorders 2020;75:116-118. IF 4.9
- Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Rare variants in specific lysosomal genes are associated with Parkinson's disease. Mov Disord 2020;35:1245-1248. IF 10.4
- Trinh J, Imhoff S, Dulovic‑Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. J Neuro 2020;267:770-782. IF 4.9
- Bally JF, Breen DP, Schaake S, Trinh J, Rakovic A, Klein C, Lang AE. Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: evidence of symptomatic enzyme deficiency? Parkinsonism Relat Disord 2020;71:44-45. IF 4.9
- Tolosa E, Vila M, Klein C, Rascol O. LRRK2 in Parkinson disease: challenges of clinical trials. Nat Rev Neurol 2020;16:97-107. IF 42.9
- Stengel F, Vulinovic F, Meier B, Grütz K, Klein C, Capetian P. Impaired differentiation of human induced neural stem cells by TOR1A overexpression. Mol Biol Rep 2020;47:3993-4001. IF 2.3
- Cascalho A, Foroozandeh J, Hennebel L, Swerts J, Klein C, Rouse S, Gonzalez BD, Pisani A, Meringolo M, Gallego SF, Verstreken P, Seibler P, Goodchild RE. Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia. Brain 2020;143:1746-65. IF 13.5
- Delcambre S, Ghelfi J, Ouzren N, Grandmougin L, Delbrouck C, Seibler P, Wasner K, Aasly JO, Klein C, Trinh J, Pereira SL, Grünewald A. Mitochondrial mechanisms of LRRK2 G2019S penetrance. Front Neurol 2020;11:881. IF 4.0
- Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R. A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease. Science Transl Med 2020;12:eaau3960. IF 18.0
- Lim SY, Lim JL, Ahmad-Annuar A, Lohmann K, Tan AH, Lim KB, Tay YW, Shing YL, Muthusamy KA, Bauer P), Rolfs, Klein C. Clinical phenotype of LRRK2 R1441C in 2 Chinese sisters. Neurodegener Dis 2020;20:39-45. IF 3.0
- San Luciano M, Tanner CM, Meng C, Marras C, Goldman SM, Lang AE, Tolosa E, Schüle B, Langston JW, Brice A, Corvol JC, Goldwurm S, Klein C, Brockman S, Berg D, Brockmann K, Ferreira JJ, Tazir M, Mellick GD, Sue CM, Hasegawa K, Tan EK, Bressman S, Saunders-Pullman R, Michael J Fox Foundation LRRK2 Cohort Consortium. Nonsteroidal anti-inflammatory use and LRRK2 Parkinson's disease penetrance. Mov Disord 2020;35:1755-1764. IF 10.4
- Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Brain 2020;143:3041-3051. IF 13.5
- Lüth T, König IR, Grünewald A, Kasten M, Klein C, Hentati F, Farrer M, Trinh J. Age at onset of LRRK2 p.Gly2019Ser is related to environmental and lifestyle factors. Mov Disord 2020;35:1854-1858. IF 10.4
- Tan AH, Lohmann K, Tay YW, Lim JL, Ahmad-Annuar A, Ramli N, Chin YT, Mawardi AS, Azmi K, Aziz ZA, Puvanarajah SD, Bauer P, Klein C, Rolfs A, Lim S-Y. PINK1 p.Leu347Pro mutations in Malays: Prevalence and Illustrative cases. Parkinsonism Relat Disord 2020;79:34-39. IF 4.9
- Alvarez-Fischer D, Vernik T, Vulinovic F, Herrmann A, Westenberger A, Klein C. Transgenerational transduction of MPTP-induced alterations in a Parkinson’s disease mouse model. Parkinsonism Relat Disord 2020;79:88-90. IF 4.9
- Busch H, Klein C. ‘Moving genes‘: How dystonia genes functionally converge on the transcriptome. Brain 2020;143:2631–2634. IF 13.5
- Wasner K, Grünewald A, Klein C. Parkin-linked Parkinson's disease: From clinical insights to pathogenic mechanisms and novel therapeutic approaches. Neurosci Res 2020;159:34-39. IF 3.30
- Norris SA, Jinnah HA, Klein C, Jankovic J, Berman BD, Roze E, Mahajan A, Espay AJ, Murthy AV, Fung VSC, LeDoux MS, Chang FCF, Vidailhet M, Testa C, Barbano R, Malaty IA, Bäumer T, Loens S, Wright LJ, Perlmutter JS. Clinical and demographic characteristics of upper limb dystonia. Mov Disord 2020;35:2086-2090. IF 10.4
- Krause C, Schaake S, Grütz K, Sievert H, Reyes CJ, König IR, Laabs B-H, Jamora RD, Rosales RL, Diesta CCE, Pozojevic J, Gemoll T, Westenberger A, Kaiser FJ, Klein C, Kirchner H. DNA methylation as a potential molecular mechanism in X-linked dystonia-parkinsonism. Mov Disord 2020;35:2220-2229. IF 10.4
- Pauly MG, Ruiz López M, Westenberger A, Saranza G, Brüggemann N, Weissbach A, Rosales RL, Diesta CC, Jamora RDG, Reyes CJ, Madoev H, Petkovic S, Ozelius LJ, Klein C, Domingo A. Expanding data collection for MDSGene database: X-linked dystonia-parkinsonism as use case example. Mov Disord 2020;35:1933-1938. IF 10.4
- Dulovic-Mahlow M, König IR, Trinh J, Diaw SH, Urban PP, Knappe E, Kuhnke N, Ingwersen LC, Hinrichs F, Weber J, Kupnicka P, Balck A, Delcambre S, Vollbrandt T, Grünewald A, Klein C, Seibler P, Lohmann K. Discordant monozygotic Parkinson disease twins: Role of mitochondrial integrity. Ann Neurol 2021;89:185-164. IF 11.3
- Noyce AJ, Klein C. Genetic risk of Alzheimer’s disease – sleepless with the enemy. Ann Neurol 2021;89:27-29. IF 11.3
- Shaikh AG, Beylergil S, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze EF, Bonnet C, Jankovic J, Jiminez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman B, Malaty I, Shukla AW, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Richardson SP, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA. Dystonia & tremor: A cross-sectional study of the dystonia coalition cohort. Neurology 2021;96:e563-e574. IF 11.8
- Borsche M, Pereira SL, Klein C, Grünewald A. Mitochondria and Parkinson’s disease: Clinical, molecular, and translational aspects. J Parkinsons Dis 2021;11:45-60. IF 5.5
- Santos-García D, Pozojevic J, de Deus Fonticoba T, Kurtis M, Gamez J, Klein C, Monje MHG, Westenberger A. First case of parkinsonian-pyramidal syndrome associated with TBK1 mutation. Mov Disord 2021;36:523-525. IF 9.7
- Trilck-Winkler M, Borsche M, König IR, Balck A, Lenz I, Kasten M, Lohmann K, Brockmann K, Valente EM, Klein C, Brüggemann N, Seibler P. Parkin deficiency appears not to be associated with cardiac damage in Parkinson’s disease. Mov Disord 2021;36:271-273. IF 4.5
- Lange LM, Klein C. Monogenic causes of dystonic syndromes: Common in dystonic cerebral palsy, rare in isolated dystonia. Mov Disord 2021;36:84. IF 4.5
- Pott H, Brüggemann N, Reese R, Zeuner K, Gandor F, Gruber D, DysTract Study Group, Klein C, Volkmann J, Lohmann K. Truncating VPS16 mutations are rare in early-onset dystonia. Ann Neurol 2021;89:625-626. IF 11.3
- Kuipers DJS, Mandemakers W, Lu C-S, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou Y-H, Chen CC, Chang H-C, Wu S-L, Yeh T-H, Weng Y-H, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. EIF2AK2 missense variants associated with early onset generalized dystonia. Ann Neurol 2021;89:485-497. IF 11.3
- Prasuhn J, Kasten M, Vos M, König IR, Schmid SM, Wilms B, Klein C, Brüggemann N. The use of vitamin K2 in patients with Parkinson's disease and mitochondrial dysfunction (PD-K2): A theranostic pilot study in a placebo-controlled parallel group design. Front Neurol 2021:11:592104. IF 4.1
- Kline EM, Houser MC, Herrick MK, Seibler P, Klein C, West A, Tansey MG. Genetic and environmental factors in Parkinson’s disease converge on immune function and inflammation. Mov Disord 2021;36:25-36. IF 4.5
- Vos M, Klein C. The importance of Drosophila melanogaster research to UnCover cellular pathways underlying Parkinson’s disease. Cells 2021;10:579. IF 7.7
- Lim SY, Ahmad-Annuar A, Lohmann K, Tan AH, Tay YW, Lim JL, Lim KB, Lit LC, Bauer P, Rolfs A, Klein C. Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation. Neurology Asia 2021;26:161-166. IF 0.3
- Lim SY, Ahmad-Annuar A, Lohmann K, Tan AH, Tay YW, Lim JL, Ramli N, Teh PC, Kuppusamy R, Tan CT, Goh KJ, Viswanathan S, Bauer P, Rolfs A, Klein C. Parkinson's disease with homozygous PINK1p.Leu489Pro mutations in two Indian sisters. Neurology Asia 2021;26:189-195. IF 0.3
- Skrahina V, Gaber H, Vollstedt E-V, Förster TM, Usnich T, Curado F, Brüggemann N, Paul J, Bogdanovic X, Zülbahar S, Olmedillas M, Skobalj S, Ameziane N, Bauer P, Csoti I, Koleva-Alazeh N, Grittner U, Westenberger A, Kasten M, Beetz C, Klein C, Rolfs A, ROPAD Study Group. The Rostock International Parkinson’s Disease (ROPAD) Study: Protocol and Initial Findings. Mov Disord 2021;36:1005-1010. IF 4.5
- Bloem BR, Okun MS, Klein C. Parkinson’s disease. Lancet 2021;397:2284-2303. IF 202.7
- Gisatulin M, Rossi M, Perandones C, Klein C, Lohmann K, Merello M. Involuntary moaning in a Hispanic family with eight affected members. Parkinsonism Relat Disord 2021;89:206-208. IF 4.4
- Prasuhn J, Borsche M, Hicks AA, Gögele M, Egger C, Kritzinger C, Pichler I, Castelo-Rueda MP, Langlott L, Kasten M, Mascalzoni D, Klein C, Pramstaller PP, Brüggemann N. Task matters – challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism Relat Disord 2021;86:101-104. IF 4.4
- Grütz K, Klein C. Dystonia updates: Definition, nomenclature, clinical classification, and etiology. J Neural Transm 2021;128:395-404. IF 3.9
- Jamora RDG, Suratos CTR, Bautista JEC, Ramiro GMI, Westenberger A, Klein C, Ledesma LK. Neurocognitive profile of patients with X-linked dystonia-parkinsonism. J Neural Transm 2021;128:671-678. IF 3.9
- Cook L, Schulze J, Kopil C, Hastings T, Naito A, Wojcieszek J, Payne K, Alcalay R, Klein C, Saunders-Pullman R, Simuni T, Foroud T. Genetic testing for Parkinson disease: Are we ready? Neurol Clin Pract 2021;11:69-77. IF 0.2
- Vollstedt E-J, Warrlich E, Hauptmann B, Hanssen H, Klein C, Kasten M, EPIPARK Study Group. Letter to the Editor about the Ongre et al. Publication: “Progression of fatigue in Parkinson's disease-a 9-year follow-up”. Eur J Neurol 2021;28:e35-e36. IF 6.3
- Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-phenotype relations for isolated dystonia genes: MDSGene systematic review. Mov. Disord 2021;36:1086-1103. IF 4.5
- Laabs B-H, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia- parkinsonism. Nat Commun 2021;12:3216. IF 17.7
- Liu G, Peng J, Liao Z, Locascio JJ, Corvol J-C, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills A-M, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes O-B, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J, International Genetics of Parkinson Disease Progression (IGPP) Consortium; Scherzer CR. Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease. Nat Genet 2021;53:787-793. IF 41.4
- Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, Follett J, Farrer MJ, Trinh J, Gasser T, Goldwurm S, Gustavsson E, Klein C, Lang AE, Langston JW, Latourelle J, Lynch T, Marder K, Marras C, Martin ER, McLean CY, Mejia-Santana H, Molho E, Myers RH, Nuytemans K, Ozelius L, Payami H, Raymond D, Rogaeva E, Rogers MP, Ross OA, Samii A, Saunders-Pullman R, Schüle B, Schulte C, Scott WK, Tanner C, Tolosa E, Tomkins JE, Vilas D, Trojanowski JQ; 23andMe Research Team; Uitti R, Vance JM, Visanji NP, Wszolek ZK, Zabetian CP, Mirelman A, Giladi N, Urtreger AO, Cannon P, Fiske B, Foroud T. Genome-wide association studies of LRRK2 modifiers of Parkinson’s disease. Ann Neurol 2021;90:76-88. IF 11.3
- Baumann H, Ott F, Weber J, Trilck-Winkler M, Münchau A, Zittel S, Kostić VS, Kaiser FJ, Klein C, Busch H, Seibler P, Lohmann K. Linking penetrance and transcription in DYT-THAP1: Insights from a human iPSC-derived cortical model. Mov Disord 2021;36:1381-1391. IF 5.5
- Reyes C, Laabs B-H, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, Koenig IR, Brüggemann N, Klein C, Dobričić V, Westenberger A, Trinh J. Brain regional differences in hexanucleotide repeat length in X-linked dystonia-parkinsonism using nanopore sequencing. Neurol Genet 2021;7:e608. IF 5.7
- Mascalzoni D, Biasiotti R, Borsche M, Brüggemann N, De Grandi A, Goegele M, Frygner-Holm S, Klein C, Kösters M, Staunton C, Pramstaller PP, Krawcak M, Hicks AA. Balancing scientific interests and the rights of participants in designing a recall by genotype study. Eur J Hum Genet 2021;29:1146-1157. IF 5.4
- Weissbach A, Steinmeier A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Brüggemann N, Tadic V, Klein C, Lohmann K, Brown MJN, Beste C, Münchau A, Bäumer T. Multimodal longitudinal neurophysiological investigations in Dopa-responsive dystonia. Mov Disord 2021;36:1986-1987. IF 4.5
- Krajka V, Naujock M, Pauly MG, Stengel F, Meier B, Stanslowsky N, Klein C, Seibler P, Wegner F, Capetian P. Ventral telencephalic patterning protocols for induced pluripotent stem cells.
- Saunders-Pullman R, Raymond D, Ortega RA, Shalash A, Gatto E, Salari M, Markgraf M, Alcalay RN, Mascalzoni D, Mencacci NE, Bonifati V, Merello M, Chung SJ, Novakovic I, Bardien S, Pal G, Hall A, Hattori N, Lynch T, Thaler A, Sue CM, Foroud T, Verbrugge J, Schulze J, Cook L, Marder K, Suchowersky O, Klein C, Simuni T. International genetic testing and counseling practices for Parkinson’s disease. Mov Disord 2023;38:1527-1536. IF 8.6
- Saffie Awad P, Lohmann K, Hirmas Y, Hinrichs F, Thomsen M, Kauffman M, Lüth T, Trinh J, Westenberger A, Chaná-Cuevas P, Klein C. Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family. Mov Disord 2023;38:1107-1109. IF 8.6 Mertin R, Diesta C, Brüggemann N, Rosales RL, Hanssen H, Westenberger A, Steinhardt J, Heldmann M, Manalo HTS, Oropilla JQ, Klein C, Helmchen C, Sprenger A. Oculomotor abnormalities indicate early executive dysfunction in prodromal X‐linked dystonia‐parkinsonism (XDP). J Neurol 2023;270:4262-4275. IF 6.0 Grossmann D, Malburg N, Glaß H, Weeren V, Sondermann V, Pfeiffer J, Petters J, Lukas J, Seibler P, Klein C, Gruenewald A, Hermann A. Mitochondria–endoplasmic reticulum contact sites dynamics and calcium homeostasis are differentially disrupted in PINK1-PD or PRKN-PD neurons. Mov Disord;in press. IF 8.6
- Cook L, Schulze J, Verbrugge J, Beck JC, Marder K, Saunders-Pullman R, Klein C, Naito A, Alcalay RN, ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson’s Disease; Clinical Genome Resource (ClinGen) Parkinson’s Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson’s Disease Authors. The commercial genetic testing landscape for Parkinson’s disease. Parkinsonism Relat Disord 2021;92:107-111. IF 4.4 *highlighted by an editorial: Mata IF. Navigating the open sea of commercial genetic testing in Parkinson’s disease. Parkinsonism Relat Disord 2021;92:105-106.
- Capponi S, Stöffler N, Penney EB, Grütz K, Nizamuddin S, Vermunt MW, Castelijns B, Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Muñoz EL, Ang MA, Diesta CCE, Creyghton MP, Klein C, Bragg DC, De Rijk P, Timmers HTM. Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism. Brain Commun 2021;3:fcab253. IF 0.2
- Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderbloem M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter SJ, Lohmann K, Jinnah HA. A multi-center genome-wide association study of cervical dystonia. Mov Disord 2021;36:2795-2801. IF 9.7
- Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS, Hallett M, Klein C, Wagle-Shukla A, Malaty IA, Reich SG, Berman BD, Feuerstein J, Vidailhet M, Roze E, Jankovic J, Mahajan A, Espay AJ, Barbano RL, LeDoux MS, Pantelyat A, Frank S, Stover N, Berardelli A, Leegwater-Kim J, Defazio G, Norris SA, Jinnah HA, Dystonia Coalition Investigators. Current guidelines for classifying and diagnosing cervical dystonia: Empirical evidence and recommendations. Mov Disord Clin Pract 2021;9:183-190. IF 4.5
- Koch S, Laabs B-H, Kasten M, Vollstedt E-J, Becktepe J, Brüggemann N, Franke A, Krämer UM, Kuhlenbäumer G, Lieb W, Mollenhauer B, Neis M, Trenkwalder C, Schäffer E, Usnich T, Wittig M, Klein C, König IR, Lohmann K, Krawczak M, Caliebe A. Validity and prognostic value of a polygenic risk score for Parkinson’s disease. Genes (Basel) 2021;12:1859. IF 4.1
- de Leon MAJ, Rosales RL, Klein C, Westenberger A. A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: A case report. BMC Neurol 2022;22:11. IF 2.6
- Lim JL, Lohmann K, Tan AH, Tay YW, Ibrahim KA, Aziz ZA, Mawardi AS, Puvanarajah SD, Lim TT, Looi I, Ooi JCE, Chia YK, Muthusay KA, Bauer P, Rolfs A, Klein C, Ahmad-Annuar A, Lim S-Y. Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features. J Neural Transm (Vienna) 2022;129:37-48. IF 3.3
- Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J. Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. Genes (Basel) 2022;13:126 IF 3.5
- Weissbach A, Steinmeier A, Pauly M, Al-Shorafat DM, Saranza G, Lang a, Brüggemann N, Tadic V, Klein C, Münchau A, Bäumer T, Brown MJN. Longitudinal evaluations of somatosensory-motor inhibition in dopa- responsive dystonia. Parkinsonism Relat Disord 2022;95:40-46. IF 4.4
- Jarazo J, Barmpa K, Modamio J, Saraiva C, Sabaté-Soler S, Rosety I, Griesbeck A, Skwirblies F, Zaffaroni G, Smits LM, Su J, Arias-Fuenzalida J, Walter J, Gomez-Giro G, Monzel AS, Qing X, Vitali A, Cruciani G, Boussaad I, Brunelli F, Jäger C, Rakovic A, Li W, Yuan L, Berger E, Arena G, Bolognin S, Schmidt R, Schröder C, Antony PMA, Klein C, Krüger R, Seibler P, Schwamborn JC. Parkinson’s disease phenotypes in patient neural cultures and brain organoids improved by 2-hydroxypropyl-β-cyclodextrin treatment. Mov Disord 2022;37:80-97. IF 8.6
- Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz H-J, König IR, Klein C, Lohmann K. Relationship of genotype, phenotype, and treatment in dopa-responsive dystonia: MDSGene review. Mov Disord 2022;37:237-252. IF 8.6
- Caldi Gomes L, Galhoz A, Jain G, Roser AE, Maass F, Carboni E, Barski E, Lenz C, Lohmann K, Klein C, Bähr M, Fischer A, Menden MP, Lingor P. Multi-omic landscaping of human midbrains identifies disease-relevant molecular targets and pathways in advanced-stage Parkinson's disease. Clin Transl Med 2022;12:e692. IF 10.6
- Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A. Transcriptional alterations in X-linked dystonia-parkinsonism caused by the SVA retrotransposon. Int J Mol Sci 2022;23:2213. IF 5.6
- Prasuhn J, Göttlich M, Gerkan F, Kourou S, Ebeling B, Kasten M, Hanssen H, Klein C, Brüggemann N. Relationship between brain iron deposition and mitochondrial dysfunction in idiopathic Parkinson’s disease. Mol Med 2022;28:28. IF 5.7
- Krajka V, Vulinovic, F, Genova M, Tanzer K, Jijumon AS, Bodakuntla S, Tennstedt S, Mueller-Fielitz H, Meier B, Janke C, Klein C, Rakovic A. H-ABC and dystonia-causing TUBB4A mutations show distinct pathogenic effects. Sci Adv 2022;8:eabj9229. IF 13.6
- Rakovic A, Voß D, Vulinovic F, Meier B, Hellberg A-K, Nau C, Klein C, Leipold E. Electrophysiological properties of induced pluripotent stem cell-derived midbrain dopaminergic neurons correlate with expression of tyrosine hydroxylase. Front cell Neurosci 2022;16:817198. IF 5.3
- Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C. On behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update. Mov Disord 2022;37:905-935. IF 8.6
- Bottigliengo D, Foco L, Seibler P, Klein C, König IR, Del Greco M F. A Mendelian randomization study investigating the causal role of inflammation on Parkinson’s disease. Brain 2022; 145:3444-3453. IF 15.3
- Kilic-Berkmen G, Defazio G, Hallett M, Berardelli A, Ferrazzano G, Belvisi D, Klein C, Bäumer T, Weissbach A, Perlmutter JS, Feuerstein J, Jinnah HA; Dystonia Coalition Investigators. Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence. J Neurol Sci;439:120319. IF 4.4
- Usnich T, Hanssen H, Lohmann K, Lohse C, Klein C, Kasten M, Brüggemann N, EPIPARK Study Group. Pronounced orthostatic hypotension in GBA-related Parkinson’s disease. J Parkinsons Dis 2022;12:1539-1544. IF 5.2
- Gabbert C, König IR, Lüth T, Kolms B, Kasten M, Vollstedt EJ, Balck A, Grünewald A, Klein C, Trinh J. Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson's disease. J Neurol 2022;269:4195-4203. IF 6.0
- Wasner K, Smajic S, Ghelfi J, Delcambre S, Prada-Medina CA, Knappe E, Arena G, Mulica P, Agyeah G, Rakovic A, Boussaad I, Badanjak K, Ohnmacht J, Gérardy J-J, Takanashi M, Trinh J, Mittelbronn M, Hattori N, Klein C, Anthony P, Seibler P, Spielmann M, Pereira SL, Grünewald A. Parkin deficiency impairs mtDNA dynamics and propagates inflammation. Mov Disord 2022;37:1405-1415. IF 8.6
- Steinhardt J, Hanssen H, Heldmann M, Sprenger A, Laabs B-H, Domingo A, Reyes CJ, Prasuhn J, Brand M, Rosales R, Münte TF, Klein C, Westenberger A, Oropilla JQ, Diesta C, Brüggemann N. Prodromal X-linked dystonia-parkinsonism is characterized by a subclinical motor phenotype. Mov Disord 2022;37:1474-1482. IF 8.6
- Periñán MT, Brolin K, Bandres-Ciga S, Blauwendraat C, Klein C, Gan-Or Z, Singleton A, Gomez-Garre P, Swanberg M, Mir P, Noyce A. Effect modification between genes and environment, and Parkinson’s disease risk. Ann Neurol 2022; 92:715-724. IF 11.2
- Algodon SM, Fischer T, Rosales R, Jamora RD, Diesta CC, Saranza G, Brüggemann N, Klein C, Westenberger A. Low frequency of p.S510G in PIAS1 challenges its relevance for modifying repeat expansion disorders. Mov Disord 2022;37:2168-2169. IF 8.6
- Gallinat A, Rakovic A, Klein C, Badimon L. DJ-1 regulates mitochondrial gene expression during ischemia and reperfusion. Free Radic Biol Med 2022;193:430-436. IF 8.1
- Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A. Repeat-associated non-AUG translation of AGAGGG repeats that cause X-linked dystonia-parkinsonism. Mov Disord 2022;37:2284-2289. IF 8.6
- Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease. Brain 2022;awac464. IF 15.3
- Rosenbohm A, Pott H, Thomsen M, Rafehi H, Kaya S, Szymczak S, Volk AE, Mueller K, Silveira I, Weishaupt JH, Tönnies H, Seibler P, Zschiedrich K, Schaake S, Westenberger A, Zühlke C, Depienne C, Trinh J, Ludolph AC, Klein C, Bahlo M, Lohmann K. Familial cerebellar ataxia and amyotrophic lateral sclerosis/frontotemporal dementia with DAB1 and C9ORF72 repeat expansions: An 18-Year Study. Mov Disord 2022;37:2427-2439. IF 8.6
- Scorr LM, Cho HJ, Kilic-Berkmen G, McKay JL, Hallett M, Klein C, Baumer T, Berman BD, Feuerstein JS, Perlmutter JS, Berardelli A, Ferrazzano G, Wagle-Shukla A, Malaty IA, Jankovic J, Bellows ST, Barbano RL, Vidailhet M, Roze E, Bonnet C, Mahajan A, LeDoux MS, Fung VSC, Chang FCF, Defazio G, Ercoli T, Factor S, Wojno T, Jinnah HA. Clinical features and evolution of blepharospasm: A multicenter international cohort and systematic literature review. Dystonia 2022;1:10359. IF not available
- Mandik F, Kanana Y, Rody J, Misera S, Wilken B, Laabs von Holt BH, Klein C, Vos M. A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities. Front Cell Dev Biol 2022;10:1000553. IF 6.1
- Dy Closas AM, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tai YW, Muthusamy KA, Ahmad-Annuar AB, Klein C, Lim SY. A KMT2B frameshift variant causing focal dystonia restricted to the oromandibular region after long-term follow-up. Mov Disord 2023;16:91-94. IF 8.6
- Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N; LIPAD Study Group. Frequency of non-motor symptoms in Parkinson’s disease patients carrying the E326K and T369M GBA risk variants. Parkinsonism Relat Disord 2023;107:105248. IF 4.4
- Trinh J, Lüth T, Schaake S, Laabs BH, Schlüter K, Laβ J, Pozojevic J, Tse R, Köenig I, Jamora RD, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Kaiser FJ, Depienne C, Pearson CE, Westenberger A, Klein C. Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset. Brain 2023;146:1075-1082. IF 15.3
- Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Genotype-phenotype correlations for ATX-TBP (SCA17):MDSGene systematic review. Mov Disord 2023;38:368-377. IF 8.6
- Thomsen M, Lange LM, Klein C, Lohmann K. MDSGene: Extending the list of isolated dystonia genes by VPS16, EIF2AK2, and AOPEP. Mov Disord 2023;38:507-508. IF 8.6
- Chemla A, Arena G, Saraiva C, Berenguer-Escuder C, Grossmann D, Grünewald A, Klein C, Seibler P, Schwamborn JC, Krüger R. Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A>G (p.T351A) or c.2067A>G (p.T610A) in the RHOT1 gene encoding Miro1. Stem cell Res 2023;69:103085. IF 1.6
- Borsche M, Märtens A, Hörmann P, Brückmann T, Lohmann K, Tunc S, Klein C, Hiller K, Balck A. In-vivo investigation of glucose metabolism in idiopathic and PRKN-related Parkinson’s disease. Mov Disord 2023;38:697-702. IF 8.6
- Shafique A, Arif B, Chu ML, Moran E, Hussain T, Zamora FM, Wohler E, Sobreira N, Klein C, Lohmann K, Naz S. MRM2 variants in families with complex dystonic syndromes: Evidence for phenotypic heterogeneity. J Med Genet 2023;60:352-358. IF 6.0
- Castelo Rueda MP, Zanon A, Gilmozzi V, Lavdas AA, Raftopoulou A, Delcambre S, Del Greco F, Klein C, Grünewald A, Pramstaller PP, Hicks AA, Pichler I. Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers. NPJ Parkinsons Dis 2023;9:65. IF 8.5
- Loens S, Hamami F, Lohmann K, Odorfer T, Ip CW, Zittel S, Zeuner KE, Everding J, Becktepe J, Marth K, Borngräber F, Kollewe K, Kamm C, Kühn AA, Gelderblom M, Volkmann J, Klein C, Bäumer T. Tremor is associated with familial clustering of dystonia. Parkinsonism Relat Disord 2023;110:105400. IF 4.4
- Tay YW, Tan AH, Lim JL, Lohmann K, Ibrahim KA, Abdul Aziz Z, Chin YT, Mawardi AS, Lim TT, Looi I, Chia YK, Ooi JCE, Cheah WK, Dy Closas AMF, Lit LC, Hor JW, Toh TS, Muthusamy KA, Bauer P, Skrahin V, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Genetic study of early-onset Parkinson’s disease in the Malaysian population. Parkinsonism Relat Disord 2023;111:10539. IF 4.4
- Hanssen H, Diesta CCE, Heldmann M, Dy J, Tantianpact J, Steinhardt J, Sauza R, Manalo HTS, Sprenger A, Reyes CJ, Tucazon, R, Laabs BH, Domingo A, Rosales RL, Klein C, Münte TF, Westenberger A, Oropilla JQ, Brüggemann N. Basal ganglia atrophy as a marker for prodromal X-linked dystonia-Parkinsonism. Ann Neurol 2023;93:999-1011. IF 11.2
- Gabbert C, Schaake S, Lüth T, Much C, Klein C, Aasly JO, Farrer MJ, Trinh J. GBA1 in Parkinson’s disease: Variant detection and pathogenicity scoring matters. BMC Genomics 2023;24:322. IF 4.4
- Gabbert C, König IR, Lüth T, Kasten M, Grünewald A, Klein C, Trinh J. Lifestyle factors and clinical severity of Parkinson's disease. Sci Rep 2023;13:9537. IF 5.0
- Borsche M, Pratuseviciute N, Schake S, Hinrichs F, Morel G, Uter J, Lohmann K, Klein C, Alessi DR, Hagenah J, Sammler E. The new p.F1700L variant LRRK2 causes Parkinson’s disease by extensively increasing kinase activity. Mov Disord 2023;38:1105-1107. IF 8.6
- Vos M, Dulovic-Mahlow M, Mandik F, Frese L, Kanana Y, Diaw SH, Depperschmidt J, Böhm C, Rohr J, Lohnau T, Inke R König IR, Klein C. Ceramide accumulation induces mitophagy and impairs ß- oxidation in PINK1 deficiency. Proc Natl Acad Sci USA;2021;118:e2025347118. IF 12.8
- Usnich T, Hauptmann B, Hanssen H, Prasuhn J, Balck A, Borsche M, Tadic V, Klee A, Noblejas-Sanchez G, Vollstedt EJ, Klein C, Brüggemann N, Kasten M, EPIPARK Study Group. Depressive symptoms in Parkinson’s disease are insufficiently but more often treated than in other chronic conditions. NPJ Parkinsons Dis 2023;9:113. IF 8.5
- Lüth T, Wasner K, Klein C, Schaake S, Tse R, Pereira S, Lass J, Sinkkonen L, Grünewald A, Trinh J. Nanopore single-molecule sequencing for mitochondrial DNA methylation analysis: Investigating Parkin-associated Parkinsonism as a proof of concept. Front Aging Neurosci 2021;13:713084. IF 5.7
- Saffie Awad P, Lohmann K, Hirmas Y, Hinrichs F, Thomsen M, Kauffman M, Lüth T, Trinh J, Westenberger A, Chaná-Cuevas P, Klein C. Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family. Mov Disord 2023;38:1107-1109. IF 8.6 Mertin R, Diesta C, Brüggemann N, Rosales RL, Hanssen H, Westenberger A, Steinhardt J, Heldmann M, Manalo HTS, Oropilla JQ, Klein C, Helmchen C, Sprenger A. Oculomotor abnormalities indicate early executive dysfunction in prodromal X‐linked dystonia‐parkinsonism (XDP). J Neurol 2023;270:4262-4275. IF 6.0 Grossmann D, Malburg N, Glaß H, Weeren V, Sondermann V, Pfeiffer J, Petters J, Lukas J, Seibler P, Klein C, Gruenewald A, Hermann A. Mitochondria–endoplasmic reticulum contact sites dynamics and calcium homeostasis are differentially disrupted in PINK1-PD or PRKN-PD neurons. Mov Disord;in press. IF 8.6
- Pal G, Cook L, Schulze J, Verbrugge J, Alcalay RN, Merello M, Sue CM, Bardien S, Bonifati V, Chung SJ, Foroud T, Gatto E, Hall A, Hattori N, Lynch T, Marder K, Mascalzoni D, Novaković I, Thaler A, Raymond D, Salari M, Shalash A, Suchowersky O, Mencacci NE, Simuni T, Saunders-Pullman R, Klein C. Genetic testing in Parkinson’s disease. Mov Disord 2023;38:1384-1396. IF 8.6
- Castelo Rueda MP, Raftopoulou A, Gögele M, Borsche M, Emmert D, Fuchsberger C, Hantikainen EM, Vukovic V, Klein C, Pramstaller PP, Pichler I, Hicks AA. Frequency of heterozygous parkin ( PRKN) variants and penetrance of Parkinson's disease risk markers in the population-based CHRIS cohort. Front Neurol 2021;12:706145. IF 4.1
- Biasiotto R, Kösters M, Tschigg K, Pramstaller PP, Brüggeman N, Borsche M, Klein C, Hicks AA, Mascalzoni D. Participant perspective on the recall-by-genotype research approach: A mixed-method embedded study with participants of the CHRIS study. Eur J Hum Gen;in press. IF 5.2 Usnich T, Vollstedt E-J, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler E, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C, LIPAD Study Group. LIPAD (LRRK2/Luebeck International Parkinson’s Disease) Study Protocol: Deep phenotyping of an international genetic cohort. Front Neurol 2021;12:710572. IF 4.1
- Lüth T, Gabbert C, Koch S, König IR, Caliebe A, Laabs BH, Hentati F, Sassi SB, Amouri R, Spielmann M, Klein C, Grünewald A, Farrer MJ, Trinh J. Interaction of mitochondrial polygenic score and lifestyle factors in LRRK2 p.Gly2019Ser parkinsonism. Mov Disord;in press. IF 8.6
- Winkler AS, Knauss S, Schmutzhard E, Leonardi M, Padovani A, Abd-Allah F, Charway-Felli A, Emmerich JV, Thirugnanam U, Satishchandra P, Hoo FK, Dalmau J, Oreja-Guevara C, Ferreira MLB, Pfausler B, Endres M, Klein C, Hemmer B, Sejvar J, Solomon T. Call for a COVID-19 Neuro Research Coalition. Lancet Neurol 2020;19:482-484. IF 44.2
- Berlit P, Fink G, Gerloff C, Klein C. COVID-19: Das Nervensystem im Blick. Dtsch Arztbl 2020;117:A-998/B-841. IF 4.4
- Winkler AS, Leonardi M, Michael BD, Abd-Allah F, Carroll W, Guekht A, COVID-19 Neuro Research Coalition. A WHO resolution on epilepsy and other neurological disorders. Lancet Neurol 2021;20:171-172. IF 30.0
- Föh B, Max Borsche M, Balck A, Taube S, Jan Rupp J, Klein C, Katalinic A. Complications of nasal and pharyngeal swabs – a relevant challenge of the COVID-19 pandemic? Eur Respir J 2021;57:2004004. IF 33.8
- Huber MK, Raichle C, Lingor P, Synofzik M, Borgmann S, Erber J, Tometten L, Rimili W, Dolff S, Wille K, Knauss S, Piepel C, Lanznaster J, Rieg S, Prasser F, Pilgram L, Spottke A, Klockgether T, Klein C, Hopfner F, Höglinger GU, LEOSS Study Group. Outcomes of SARS-CoV-2 infections in patients with neurodegenerative diseases in the LEOSS Cohort. Mov Disord 2021;36:791-793. IF 4.5
- Borsche M, Reichel D, Fellbrich A, Lixenfeld AS, Rahmöller J, Vollstedt E-J, Föh B, Balck A, Klein C, Ehlers M, Moser A. Persistent cognitive impairment associated with cerospinal fluid anti-SARS-CoV-2 antibodies six months after mild COVID-19. Neurol Res Pract 2021;3:34. IF 0.2
- Beghi E, Michael BD. Solomon T, Westenberg E, Winkler AS, COVID-19 Neuro Research Coalition. Approaches to understanding COVID‐19 and its neurological associations. Ann Neurol 2021;89:1059-1067. IF 11.3
- Schulz JB, Berlit P, Diener H-C, Gerloff C, Greinacher A, Klein C, Petzold GC, Piccininni M, Poli S, Röhrig R, Steinmetz H, Thiele T, Kurth T, German Society of Neurology SARS-CoV-2 Vaccination Study Group. COVID-19 vaccine-associated cerebral venous thrombosis in Germany. Ann Neurol 2021;90:627-639. IF 11.3
- Kleineberg NN, Knauss S, Gülke E, Pinnschmidt HO, Jakob CEM, Lingor P, Hellwig K, Berthele A, Höglinger G, Fink GR, Endres M, Gerloff C, Klein C, Stecher M, Classen AY, Rieg S, Borgmann S, Hanses F, Rüthrich MM, Hower M, Tometten L, Haselberger M, Piepel C, Merle U, Dolff S, Degenhardt C, Jensen B-EO, Vehreschild MJGT, Erber J, Franke C, Warnke C, LEOSS Study Group. Neurological symptoms and complications in predominantly hospitalized COVID-19 patients: Results of the European multinational Lean European Open Survey on SARS-infected patients (LEOSS). Eur J Neurol 2021;28:3925-3937. IF 6.3
- Klein C, Borsche M, Balck A, Föh B, Rahmöller J, Peters E, Knickmann J, Lane M, Vollstedt E-J, Elsner SA, Käding N, Hauswaldt S, Lange T, Hundt JE, Lehrian S, Giese J, Mischnik A, Niemann S, Maurer F, Homolka S, Paulowski L, Kramer J, Twesten C, Sina C, Gillessen-Kaesbach G, Busch H, Ehlers M, Taube S, Rupp J, Katalinic A. One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk. Sci Adv 2022;8:eabm5016. IF 14.1
- Balck A, Föh B, Borsche M, Rahmöller J, Vollstedt E-J, Waldeck F, Käding N, Twesten C, Mischnik A, Gillessen-Kaesbach G, Ehlers M, Sina C, Taube S, Busch H, Rupp J, Katalinic A, Klein C. Protocol of the Lübeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study. BMC Public Health 2022;22:1305. IF 4.5
- Föh B, Schnoor M, Balck A, Waldeck F, Käding N, Borsche M, Rupp J, Katalinic A, Klein C. Transition to endemic: Two-year SARS-CoV-2 surveillance follow-up of the ELISA cohort. ERJ Open Res 2023;00746-2022. IF 4.2
- Lange B, Jaeger VK, Harries M, Rücker V, Streeck H, Blaschke S, Petersmann A, Toepfner N, Nauck M, Hassenstein MJ, Dreier M, von Holt I, Budde A, Bartz A, Ortmann J, Kurosinski MA, Berner R, Borsche M, Brandhorst G, Brinkmann M, Budde K, Deckena M, Engels G, Fenzlaff M, Härtel C, Hovardovska O, Katalinic A, Kehl K, Kohls M, Krüger S, Lieb W, Meyer- Schlinkmann KM, Pischon T, Rosenkranz D, Rübsamen N, Rupp J, Schäfer C, Schattschneider M, Schlegtendal A, Schlinkert S, Schmidbauer L, Schulze-Wundling K, Störk S, Tiemann C, Völzke H, Winter T, Klein C, Liese J, Brinkmann F, Ottensmeyer PF, Reese JP, Peter Heuschmann P, Karch A. Estimates of protection against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season – the IMMUNEBRIDGE project. Infection;in press. IF 7.5
- Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Krüger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C; Genetic Epidemiology of Parkinson's Disease GEO-PD Consortium. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA. 2006;296:661-670.
- Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH; PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009;124:593-605.
- Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T; PROGENI Investigators, Coordinators and Molecular Genetic Laboratories; GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Genomewide association study for onset age in Parkinson disease. BMC Med Genet. 2009;10:98.
- Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quattrone A, Van Broeckhoven C, Sharma M, Silburn PA, Tan EK, Wirdefeldt K, Ioannidis JP; Genetic Epidemiology of Parkinson's Disease (GEOPD) Consortium. Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study. Am J Med Genet B Neuropsychiatr Genet. 2010; 5;153B(1):220-8.
- Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL; PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Copy number variation in familial Parkinson disease. PLoS One;2011;6:e2098.
- Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T; PSG-Progeni GenePD Investigators, Coordinators, and Molecular Genetic Laboratories. Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord. 2011;26:2039-2044.
- Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEO PD Consortium. Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012;79(7):659-667.
- Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014;46:989-993.
- Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Disease meta-analysis consortium. Klein C. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging 2015; 36:1605e7-1605e12.
- Richardson SP, Wegele AR, Skipper B, Deligtisch A, Jinnah HA, Dystonia Coalition Investigators. Dystonia treatment: Patterns of medication use in an international cohort. Neurology 2017;88:543-550.
- Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, International Parkinson’s Disease Genomics Consortium (IPDGC). Frequency of loss of function variants in LRRK2 in Parkinson disease. JAMA Neurol. 2018;75:1416-1422. IF 12.3
- Global Parkinson’s Genetics Consortium. GP2: The Global Parkinson’s Genetics Program. Mov Disord 2021;36:842-851. IF 4.5
- Liu G, Ni C, Zhan J, Li W, Luo J, Liao Z, Locascio JJ, Xian W, Chen L, Pei Z, Corvol JC, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, van Hilten JJ, Barker RA, Williams-Gray CH, Scherzer CR; International Genetics of Parkinson Disease Progression (IGPP) Consortium. Mitochondrial haplogroups and cognitive progression in Parkinson's disease. Brain 2023;146:42-49. IF 15.3
- Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C. MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord 2023;38:286-303. IF 8.6
- Aleknonytė-Resch M, Trinh J, Leonard H, Delcambre S, Leitão E, Lai D, Smajić S, Orr-Urtreger A, Thaler A, Blauwendraat C, Sharma A, Makarious MB, Kim JJ, Lake J, Rahmati P, Freitag- Wolf S, Seibler P, Foroud T, Singleton AB, International Parkinson Disease Genomics Consortium, Grünewald A, Kaiser F, Klein C, Krawczak M, Dempfle A. Genome-wide case-only analysis of gene-gene interactions with known Parkinson’s disease risk variants reveals link between LRRK2 and SYT10. NPJ Parkinsons Dis 2023;9:102. IF 8.5
- Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinsons Dis 2023;9:100. IF 8.5
- Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D'Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L; Nigeria Parkinson Disease Research Network; International Parkinson's Disease Genomics Consortium Africa; Black and African American Connections to Parkinson's Disease Study Group; 23andMe Research Team; Blauwendraat C, Houlden H, Singleton A, Okubadejo NU; Global Parkinson's Genetics Program. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: A genome-wide association study. Lancet Neurol 2023;S1474-4422(23)00283-1. IF 48.0
- Vollstedt EJ, Madoev H, Aasly A, Ahmad-Annuar A, Al- Mubarak B, Alcalay RN, Alvarez V, Amorin I, Annesi G, Arkadir D, Bardien S, Barker RA, Barkhuizen M, Basak AN, Bonifati V, Boon A, Brighina L, Brockmann K, Belin AC, Carr J, Clarimon J, Cornejo-Olivas M, Correia Guedes L, Corvol JC, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Rosa A, Dorszewska J, Ertan S, Ferese R, Ferreira J, Gatto E, Genç G, Giladi N, Gómez-Garre P, Hanagasi H, Hattori N, Hentati F, Hoffman-Zacharska D, Illarioshkin SN, Jankovic J, Jesús S, Kaasinen V, Kievit A, Klivenyi P, Kostic V, Koziorowski D, Kühn AA, Lang AE, Lim SY, Lin CH, Lohmann K, Markovic V, Martikainen MH, Mellick G, Merello M, Milanowski L, Mir P, Öztop- Çakmak Ö, Gonçalves Pimentel MM, Pulkes T, Puschmann A, Rogaeva E, Sammler EM, Skaalum Petersen M, Skorvanek M, Spitz M, Suchowersky O, Tan AH, Termsarasab P, Thaler A, Tumas V, Valente EM, van de Warrenburg B, Williams-Gray CH, Wu RM, Zhang B, Zimprich A, Solle J, Padmanabhan S, Klein C. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: experience from the MJFF Global Genetic Parkinson’s Disease Project. PLoS One;in press. IF 3.7
- Schneider SA, Klein C: PINK1 Type of Young-Onset Parkinson Disease (March 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
- Schneider SA und Klein C: PINK1 Type of Young-Onset Parkinson Disease (September 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
- Schneider SA und Klein C: PINK1 Type of Young-Onset Parkinson Disease (September 2014) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
- Schneider SA, Klein C. PINK1 Type of Young-Onset Parkinson Disease. 2010 Mar 16 [Updated 2018 May 24]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.Available from: https://www.ncbi.nlm.nih.gov/books/NBK26472/
- Klein C. The twists and turns of dystonia genes and loci: an update. Web Site Edition of the Movement Disorders Society, February/March 2009.
- Klein C, Marras C, Münchau A. Dystonia Overview. 2003 Oct 28 [Updated 2014 May 1]. In: Pagon RA, Adam MP,Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1478/
- Brüggemann N, Klein C. Parkin Type of Early-Onset Parkinson Disease. 2001 April 17 [Updated 2013 April 4]. In: Pagon RA, Adam MP,Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington , Seattle; 1993-2014 Available at http://www.ncbi.nlm.nih.gov/books/NBK1478/