Name: Katja Lohmann, nee Hedrich

Position/Title: Vice Head (Institute of Neurogenetics), W2 Professor, Head of Research section Genetics of Rare Diseases

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: +49-451-3101 8209; Fax: +49-451-3101 8204

1995-1997: Studies of Biology (B.Sc. equivalent) at the Technical University Dresden

1997-2000: Studies of Biology (M.Sc. equivalent) at the Martin Luther University Halle-Wittenberg

2000-2003: PhD studies at the University of Lübeck, Institute of Human Genetics and Department of Neurology

2001-2002: PhD student at Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA (Prof. X.O. Breakefield)

2003-2009: Postdoctoral researcher at the Institute of Human Genetics and the Department of Neurology at the University of Lübeck

2005: Postdoctoral fellow at the Oregon Health and Science University, Portland, OR, USA (Prof. P.L. Kramer)

2010: Habilitation (Assistant Professor equivalent) at the Medical faculty of the University of Lübeck for Human Genetics

2009-2013: Research group leader at the Department of Neurology at the University of Lübeck

2013-present: Research group leader and Vice Director of the Institute of Neurogenetics at the University of Lübeck

2015-2017: Professor (APL)

Since 2017: W2 Professor (Molecular Genetics of Rare Diseases)

2000-present: Member of the German Society of Human Genetics, the European Society of Human Genetics, and the American Society of Human Genetics; Member of the International Parkinson and Movement Disorder Society

2004-present: Ad hoc reviewer for >15 journals (e.g. American Journal of Human Genetics, Annals of Neurology, Brain, Movement Disorders, Molecular Psychiatry)

2013-present: Reviewer for several funding agencies (e.g. DFG, BMBF, French National Research Agency, Research Foundation Flanders)

2017-present: Member of the expert panel of the German Academy for Rare Neurological Diseases (DASNE)

2018-present: Editorial board member Movement Disorders and DGNeurologie

2019-present: Board member Dystract e.V.

2019-present: Member of the Data Interpretation Task Force (DITF) of the European Reference Network on Rare Neurological diseases (ERN-RND)

2019-present: Member of the Awards Committee of the International Parkinson and Movement Disorder Society

2004: Heinrich Dräger Award

2008: Stipend of the Novartis Foundation

2011: Renate Maass Award for Brain Research

2013: David Marsden Award for Dystonia Research (Dystonia Europe)

Current research support

“Elucidating novel genetic causes of dystonia by large-scale sequencing”; (LO1555/10-1)
Principle Investigators: Katja Lohmann, Christine Klein, Hauke Busch
Funding period: 2020-2022
Amount: 900,000 €

Ongoing research support

“Identification of genetic factors for reduced penetrance in THAP1 dystonia”; LO1555/9-1
Principal Investigator: Katja Lohmann, PhD
Funding agency: German Research Foundation (DFG)
Funding period: 2016-2020
Amount: 145,000 €

“Etablierung des Koordinationszentrums der Deutschen Akademie für Seltene Neurologische Erkrankungen (DASNE) am Zentrum für Seltene Erkrankungen Lübeck“
Principal Investigator: Alexander Münchau, MD, Katja Lohmann, PhD
Funding agency: Damp Foundation
Funding period: 2019-2021
Amount: 392,400 €

Completed research support (selection)

“Investigation and therapy of dystonic diseases (DYSTRACT)” 01GM1514B
Principal Investigator (subproject): Katja Lohmann, PhD
Funding agency: Federal Ministry of Education and Research
Funding period: 2016 – 2019
Amount: 320,000 €

“Identification of novel dystonia genes in consanguineous families”, LO1555/8-1
Principal Investigator: Katja Lohmann, PhD
Funding agency: German Research Foundation (DFG)
Funding period: 2014-2016
Amount: 299,000 €

“Unraveling novel genetic cause in alcohol-responsive dystonia by exome sequencing”, NS065701
Principal Investigator: Katja Lohmann, PhD
Funding agency: Dystonia Coalition
Funding period: 2013-2014
Amount: 38,000 €

“Identification of targets and interactors of the DYT6-related transcription factor THAP1”, LO1555/3-2
Principal Investigator: Katja Lohmann, PhD
Funding agency: German Research Foundation (DFG)
Funding period: 2012-2015
Amount: 245,000 €

Genetic risk factors of musician´s dystonia, LO1555/4-1
Principal Investigator: Katja Lohmann, PhD
Funding agency: German Research Foundation (DFG)
Funding period: 2010-2013
Amount: 295,000 €

“Molecular characterization of the THAP1 (DYT6) gene and its role in dystonia”, LO1555/3-1
Principal Investigator: Katja Lohmann, PhD
Funding agency: German Research Foundation (DFG)
Funding period: 2009-2011
Amount: 220,000 €

“Identification of genetic causes of restless legs syndrome”, HE4547/1-1
Principal Investigator: Katja Lohmann, PhD
Funding agency: German Research Foundation (DFG)
Funding period: 2007-2008
Amount: 180,000 €

PhD thesis: 1 completed, 2 ongoing

MD thesis: 9 completed, 4 experimentally completed, 1 ongoing

Bachelor and master thesis: 1 completed master thesis, 1 completed bachelor thesis

Co-supervised thesis: 3 international PhD theses, 3 national MD theses, 1 international master theses, 1 national master thesis, 1 national bachelor thesis

Awards for team members: 4 MD students with scholarship “Promotionsstipendium”, 9 travel awards, 1 “Wissenschaftspreis” 2018 of the German Society of Musician´s Medicine




Neurobiomedizin for Master Molecular Life Sciences (2008-2012)

Human Genetics for Medical students, 2009, 2010

Neuroscience II (since 2013)

Rare Diseases (since 2014)


Journal Club Neurogenetics, since 2000

Neurogenetic seminar for Master Molecular Life Sciences 2008, 2014

Consolidation course for Master students (since 2015)

Neurosciences II seminar (since 2013)

Internships (3-month) for Master Molecular Life Sciences: 3 times

Invited talks (since 2013)

  1. Lohmann K et al. Genome sequencing reveals a mutation in the TUBB4 gene as the cause of whispering dysphonia (DYT4 dystonia). Annual Meeting Deutsche Gesellschaft für Humangenetik, Dresden, March 2013.
  2. Lohmann K. A mutation in the TUBB4 gene as the cause of whispering dysphonia (DYT4 dystonia). Dystonia Europe. David Marsden Award presentation. Edinburgh, UK, September 2013.
  3. Lohmann K et al. Mutations in TUBB4 (DYT4) and GNAL (DYT25) are newly identified causes of dystonia with cranio-cervical involvement. Annual Meeting Deutsche Gesellschaft für Neurologie, Dresden, September 2013.
  4. Lohmann K. Next generation sequencing: Neue Gene für Bewegungsstörungen. Annual Meeting Deutsche Gesellschaft für Neurologie, Dresden, September 2013.
  5. Lohmann K. Genetische Risikofaktoren bei der Musiker-Dystonie. Annual Meeting Deutsche Gesellschaft für Neurologie, Dresden, September 2013.
  6. Lohmann K. Next generation sequencing facilitates identification of novel disease genes: TUBB4 and PDGFB as examples. Think Tank der Bachmann Strauss Dystonia and Parkinson Foundation. New York, NY, October 2013.
  7. Lohmann K. Genetics of Movement Disorders in the era of rapidly evolving methods. W2 professorship application at ETH Zurich. Zurich, Switzerland, March 2014.
  8. Lohmann K et al. A homozygous mutation in the complex IV assembly factor COX20 (FAM36A) as a novel cause of a dystonia-ataxia syndrome. Annual Meeting Deutsche Gesellschaft für Humangenetik. Essen, March 2014.
  9. Lohmann K. Genetik neurologischer Erkrankungen: Neue Methoden – neue Erkenntnisse. W2 professorship application at Universität Würzburg, Würzburg, October 2014.
  10. Lohmann K. Missing heritability: Vererbt, aber wie? Antrittsvorlesung (APL-Professor), Lübeck, Februar 2015.
  11. Lohmann K, Münchau A. Bewegungsstörungen: Welche Informationen helfen bei der genetischen Diagnostik. Educational Session 1. Annual Meeting Deutsche Gesellschaft für Humangenetik, Lübeck, March 2016.
  12. Lohmann K. Genetische Ursachen von Bewegungsstörungen. Annual Meeting Berufsverband Deutscher Nervenärzte (Mecklenburg-Vorpommern), Ueckermünde, April 2016.
  13. Lohmann K. Genetics of dystonia. Symposia on Treatment of dystonias, Hanover, May 2016.
  14. Lohmann K et al. Novel genes for complex dystonia: Homozygous mutations in MCOLN1, SACS, and ATCAY. Annual Meeting Deutsche Gesellschaft für Neurologie, Mannheim, September 2016.
  15. Lohmann K. Sinnvolle genetische Diagnostik im neurologischen Klinikalltag. Intensivkurs Neurologie der Ärztekammer Schleswig-Holstein, Bad Segeberg, October 2016.
  16. Lohmann K et al. Functional characterization of novel GNB1 mutations as a rare cause of global developmental delay. Annual Meeting Deutsche Gesellschaft für Humangenetik, Bochum, March 2017.
  17. Lohmann K. Genetik von M. Parkinson. Parkinson-Kolloquium des Parkinson-Zentrums Göttingen-Kassel, Göttingen, May 2017.
  18. Lohmann K. Detailed phenotyping in neurogenetic diseases as a key for NGS data interpretation in diagnostics. Annual Meeting European Society of Human Genetics, Copenhagen, May 2017.
  19. Lohmann K. Genes causing isolated dystonia: New mutations and pathogenic pathways. Annual Meeting Movement Disorder Society, Vancouver (Canada), June 2017.
  20. Lohmann K. „Mutation, Variante oder Polymorphismus?“ Annual Meeting Deutsche Gesellschaft für Neurologie. Leipzig, September 2017.
  21. Lohmann K. „Andere genetische Ursachen einer Dystonie“ Annual Meeting Deutsche Gesellschaft für Neurologie. Leipzig, September 2017.
  22. Lohmann K. „Überblick über Genotyp-Phänotyp-Datenbanken“ Annual Meeting Deutsche Gesellschaft für Neurologie. Leipzig, September 2017.
  23. Lohmann K. „Genetik bei neurologischen Erkrankungen: Was ist für den Kliniker wichtig und hat Therapierelevanz?“ Fortbildungsveranstaltung Neurologie für die Praxis. Essen, October 2017.
  24. Lohmann K. „NGS – Datenbearbeitung – Varianteninterpretation“ Workshop beim Gründungssymposium der DASNE. Wartburg/Eisenach, November 2017.
  25. Lohmann K et al. VPS13D. “Biallelic mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction”. Annual Meeting Deutsche Gesellschaft für Humangenetik. Münster, March 2018
  26. Lohmann K et al. VPS13D. “Biallelic mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction”. Care-for-Rare-Symposia. Tutzing, April 2018.
  27. Lohmann K. Sinnvolle genetische Diagnostik im neurologischen Klinikalltag. Intensivkurs Neurologie der Ärztekammer Schleswig-Holstein, Bad Segeberg, September 2018.
  28. Lohmann K. “New Insights in Dystonia” Annual Meeting Movement Disorder Society. Hong Kong, October 2018.
  29. Lohmann K. „Grundkurs: NGS – Datenbearbeitung – Varianteninterpretation“ Workshop bei der Jahrestagung der DASNE. Wartburg/Eisenach, November 2018.
  30. Lohmann K. Update: Genetik der Dystonien. 11. Symposium Bewegungsstörungen. Munich, July 2019.
  31. Lohmann K. Genetische Faktoren bei Dystonien. Annual Meeting Deutsche Gesellschaft für Neurologie. Stuttgart, September 2019
  32. Lohmann K. Pathogen oder benign: Interpretation von genetischen Testergebnissen. Annual Meeting Deutsche Gesellschaft für Neurologie. Stuttgart, September 2019
  33. Lohmann K. „Grundkurs: NGS – Datenbearbeitung – Varianteninterpretation“ Workshop bei der Jahrestagung der DASNE. Wartburg/Eisenach, November 2019.


  1. Diaw SH, Lohmann K. Linking Huntington’s Disease and X-Linked Dystonia Parkinsonism on the Molecular Level. Mov Disord 2020;in press.
  2. Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N. Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature. Parkinsonism Relat Disord 2020:41-46.
  3. Gisatulin M, Dobricic V, Zühlke C, Hellenbroich Y, Tadic V, Münchau A, Isenhardt K, Bürk K, Bahlo M, Lockhart PJ, Lohmann K, Helmchen C, Brüggemann N. Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. Neurology 2020;in press.
  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 SY. PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases. Parkinsonism Relat Disord 2020:34-39.
  5. Greuel A, Trezzi JP, Glaab E, Ruppert MC, Maier F, Jäger C, Hodak Z, Lohmann K, Ma Y, Eidelberg D, Timmermann L, Hiller K, Tittgemeyer M, Drzezga A, Diederich N, Eggers C. GBA Variants in Parkinson’s Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes. Mov Disord 2020;in press.
  6. Arif B, Rasheed A, Kumar KR, Fatima A, Abbas G, Wohler E, Sobriera N, Lohmann K, Naz S, Baylor-Hopkins Center for Mendelian Genomics. A novel homozygous KY variant causing a complex neurological disorder. Eur J Med Genet 2020;11:104031.
  7. Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Rheinard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J Rare Dis 2020;1:206.
  8. 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 2020:1-7.
  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. Private variants in PRKN are associated with late-onset Parkinson’s disease. Parkinsonism Relat Disord 2020:24-26.
  10. 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.
  11. 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.
  12. Danielsson A, Carecchio M, Cif L, Koy A, Lin JP, Solders G, Romito L, Lohmann K, Garavaglia B, Reale C, Zorzi G, Nardocci N, Coubes P, Gonzalez V, Roubertie A, Collod-Beroud G, Lind G, Tedroff K. Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. J Clin Med 2019;12
  13. 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.
  14. Lohmann K, Brüggemann N. Rediscovery of repeat expansions: Solving the unsolved cases. Mov Disord 2019;9:1300.
  15. 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.
  16. Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders. J Neurodev Disord 2019;1:11.
  17. Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Am J Hum Genet 2019;1:213-220.
  18. 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.
  19. Dulovic-Mahlow M, Gajos A, Baumann H, Pozojevic J, Kaiser FJ, Bogucki A, Lohmann K. Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression? Parkinsonism Relat Disord 2019:274-276.
  20. Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K. Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. Cerebellum 2019;4:817-822.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K. A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia. J Neurol Sci 2018:199-201.
  28. 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.
  29. Petkovic S, Lohmann K. Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar. Mov Disord 2018;8:1271.
  30. 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.
  31. 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.
  32. Dulovic M, Schäffer E, Leypoldt F, Balck A, Schaake S, Hinrichs F, Kirchner H, Brüggemann N, Berg D, Lohmann K. A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members. Parkinsonism Relat Disord 2018:116-118.
  33. 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;12:1857-1870.
  34. 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.
  35. Flotats-Bastardas M, Hebert E, Raspall-Chaure M, Munell F, Macaya A, Lohmann K. Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia. Neuropediatrics 2018;4:296-297.
  36. Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Naz S, Lohmann K. Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. Parkinsonism Relat Disord 2018:91-95.
  37. Kübler D, Borngräber F, Lohmann K, Kühn AA. Novel SGCE mutation in a patient with myoclonus-dystonia syndrome – Diagnostic delay of more than 40 years. J Clin Neurosci 2018:131-132.
  38. 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
  39. 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.
  40. Trinh J, Hüning I, Budler N, Hingst V, Lohmann K, Gillessen-Kaesbach G. A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. J Hum Genet 2017;11:1005-1006.
  41. 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.
  42. 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.
  43. 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.
  44. Brockmann K, Lohmann K. [Genetic risk variants in Parkinson’s disease and other movement disorders]. Nervenarzt 2017;7:713-719.
  45. Hollstein R, Reiz B, Kötter L, Richter A, Schaake S, Lohmann K, Kaiser FJ. Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression. Hum Mol Genet 2017;15:2975-2983.
  46. Balck A, Hanssen H, Hellenbroich Y, Lohmann K, Münchau A. Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A. J Neurol 2017;7:1520-1522.
  47. 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.
  48. 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.
  49. Richter A, Hollstein R, Hebert E, Vulinovic F, Eckhold J, Osmanovic A, Depping R, Kaiser FJ, Lohmann K. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. J Mol Neurosci 2017;1:11-16.
  50. Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep 2017;3:26.
  51. Wenzel GR, Lohmann K, Kühn AA. A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism. Parkinsonism Relat Disord 2017:120-122.
  52. Zittel S, Lohmann K, Bauer P, Klein C, Münchau A. Munchausen syndrome by genetics: Next-generation challenges for clinicians. Neurology 2017;10:1000-1001.
  53. 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.
  54. 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.
  55. 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;5:724-725.
  56. 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.
  57. Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A. Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mov Disord 2016;12:1929-1931.
  58. 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.
  59. Zeuner KE, Acewicz A, Knutzen A, Dressler D, Lohmann K, Witt K. Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer’s cramp. J Neurogenet 2016;3-4:276-279.
  60. Steinrücke S, Lohmann K, Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurol Genet 2016;5:e106.
  61. 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.
  62. 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.
  63. Domingo A, Erro R, Lohmann K. Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing. Mov Disord 2016;4:471-477.
  64. 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.
  65. 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.
  66. 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.
  67. 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.
  68. 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.
  69. Krause P, Brüggemann N, Völzmann S, Horn A, Kupsch A, Schneider GH, Lohmann K, Kühn A. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. J Neurol 2015;12:2739-2744.
  70. 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.
  71. Nibbeling E, Schaake S, Tijssen MA, Weissbach A, Groen JL, Altenmüller E, Verbeek DS, Lohmann K. Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia. J Neurol 2015;5:1340-1343.
  72. 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.
  73. 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.
  74. 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.
  75. 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.
  76. Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K. Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. J Neurol 2014;1:187-193.
  77. Kumar KR, Martemyanov KA, Lohmann K. GNAL mutations and dystonia–reply. JAMA Neurol 2014;8:1053-1054.
  78. Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ. THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. Biochim Biophys Acta 2014;11:1196-1204.
  79. Lohmann K, Klein C. Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 2014;4:699-707.
  80. 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.
  81. 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.
  82. Lohmann K, Klein C. The many faces of TUBB4A mutations. Neurogenetics 2014;2:81-82.
  83. 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.
  84. Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia 2014;4:e25-9.
  85. 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.
  86. 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.
  87. 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.
  88. 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.
  89. 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.
  90. 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.
  91. 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.
  92. Lohmann K, Klein C. Genetics of dystonia: what’s known? What’s new? What’s next? Mov Disord 2013;7:899-905.
  93. 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.
  94. 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.
  95. 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.
  96. 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.
  97. Lohmann K, Brockmann K. [Genetics of movement disorders]. Nervenarzt 2013;2:143-150.
  98. 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.
  99. Klein C, König IR, Lohmann K. Exome sequencing for gene discovery: time to set standard criteria. Ann Neurol 2012;4:627-628.
  100. Lohmann K, Klein C. Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. Mov Disord 2012;8:963.
  101. 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.
  102. Kumar KR, Ramirez A, Göbel A, Kresojević N, Svetel M, Lohmann K, M Sue C, Rolfs A, Mazzulli JR, Alcalay RN, Krainc D, Klein C, Kostic V, Grünewald A. Glucocerebrosidase mutations in a Serbian Parkinson’s disease population. Eur J Neurol 2012;2:402-405.
  103. 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.
  104. 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.
  105. Kumar KR, Lohmann K, Klein C. Genetics of Parkinson disease and other movement disorders. Curr Opin Neurol 2012;4:466-474.
  106. 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.
  107. 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.
  108. 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.
  109. Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies 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 2011;2:129-137.
  110. 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.
  111. 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.
  112. 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.
  113. 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.
  114. 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.
  115. 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.
  116. 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.
  117. 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.
  118. 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.
  119. 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.
  120. 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.
  121. 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.
  122. 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.
  123. 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.
  124. 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.
  125. 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.
  126. 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.
  127. Kasten M, Weichert C, Lohmann K, Klein C. Clinical and demographic characteristics of PINK1 mutation carriers–a meta-analysis. Mov Disord 2010;7:952-954.
  128. 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.
  129. 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.
  130. 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.
  131. 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.
  132. 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.
  133. Schmidt A, Jabusch HC, 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;14:1248-1254.
  134. 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.
  135. 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.
  136. 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.
  137. 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.
  138. 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 2008;12:1041-1047.
  139. Klein C, Lohmann K. Parkinson disease(s): is “Parkin disease” a distinct clinical entity? Neurology 2008;2:106-107.
  140. Brueggemann N, Odin P, Gruenewald 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;16:1294; author reply 1294.
  141. 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.
  142. 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.
  143. 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;9:1071-1074.
  144. 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.
  145. 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.
  146. Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology 2008;14:1186-1191.
  147. 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 2008;7:1229-1231.
  148. 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 2007;9:686-694.
  149. 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;10:1407-1413.
  150. Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C. alpha-Synuclein and Parkinson disease susceptibility. Neurology 2007;18:1745-1750.
  151. Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, van 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;9:842-850.
  152. 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.
  153. 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.
  154. 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.
  155. Klein C, Lohmann-Hedrich K. Impact of recent genetic findings in Parkinson’s disease. Curr Opin Neurol 2007;4:453-464.
  156. 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.
  157. 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.
  158. 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.
  159. 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.
  160. 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;9:1677-1680.
  161. Hiller A, Hagenah JM, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C, Kress W, Münchau A, Klein C. Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. Mov Disord 2006;1:145-147.
  162. 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.
  163. 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.
  164. Helmchen C, Schwekendiek A, Pramstaller PP, Hedrich K, Klein C, Rambold H. Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. J Neurol 2006;8:1071-1075.
  165. 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.
  166. 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.
  167. 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.
  168. 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.
  169. 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;5:759-761.
  170. Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Møller 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 2005;1:18-23.
  171. 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.
  172. 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.
  173. 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.
  174. 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.
  175. 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;Pt 10:2281-2290.
  176. 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.
  177. 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.
  178. Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C. Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. J Neurol Neurosurg Psychiatry 2005;6:860-862.
  179. 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.
  180. Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E. Extension of the mutation spectrum in Friedreich’s ataxia: detection of an exon deletion and novel missense mutations. Eur J Hum Genet 2004;11:979-982.
  181. 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.
  182. 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.
  183. 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;3:395-400.
  184. 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 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004;3:389-394.
  185. 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.
  186. 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.
  187. 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.
  188. Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Hagenah J, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002;11:1783-1786.
  189. 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.
  190. 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.
  191. 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.
  192. 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.
  193. 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;8:1239-1246.
  194. 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.
  195. 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.
  196. 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;5:835; author reply 835.
  197. Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz CG, Klein C. Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study. Neurology 2002;5:808-810.
  198. 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;16:1649-1656.