Name: Anne Grünewald

Position/Title:  Bridge Professor (double affiliation with the University of Luxembourg) and Head of Mitochondrial Research Section in Lübeck

Address: Institute of Neurogenetics, Mitochondrial Research Section, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany

Phone: +49-451-2903351; Fax: +49-451-2903353

Email: anne.gruenewald@neuro.uni-luebeck.de  

2003: German Academy Exchange Service (DAAD) Fellow, Institute of Functional Genomics, Centre National de la Recherche Scientifique, Montpellier, France

2004-2005: Graduate Engineer Diploma in Biotechnology, European Neuroscience Institute (Laboratory of Prof S. Sigrist), University of Göttingen, Germany

2005-2008: PhD Thesis (Section of Clinical & Molecular Neurogenetics led by Prof. C. Klein, University of Lübeck, Germany; “Molecular characterisation of SGCE-associated myoclonus dystonia and PINK1-associated Parkinson's disease”)

2006: Visiting Scientist, Department of Clinical Genetics (Laboratory of Prof. V. Bonifati), Erasmus University Medical Center, Rotterdam, The Netherlands

2007-2008: DAAD Fellow, Department of Clinical Neurosciences (Head: Prof. A.H.V. Schapira), University College London, UK

2009-2012: Research Associate and Head, Mitochondrial Function in Movement Disorders Junior Group, Institute of Neurogenetics, University of Lübeck, Germany

2010: Visiting Scientist, Kolling Institute of Medical Research (Laboratory of Prof. C. Sue), University of Sydney, Australia

2012-2015: German Research Foundation (DFG) Fellow and Research Associate, Wellcome Trust Centre for Mitochondrial Research (Head: Prof. D. Turnbull), Newcastle University, UK

2016-present: Assoc. Professor, National Research Fund Luxembourg (FNR) ATTRACT Fellow, Head of the Molecular and Functional Neurobiology Research Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg

2018-present: Assoc. Professor (“Brückenprofessor”, W2 level), Head of the Mitochondrial Function in Movement Disorders Section, Institute of Neurogenetics, University of Lübeck, Germany

2003-2014: Travel Awards from the Guarantors of Brain, the Movement Disorders Society, the German Academic Exchange Service, Boehringer Ingelheim, the Felgenhauer and the GSK Foundation

2011-2013: Career Development Award from the Medical Faculty of the University of Lübeck

2012-2013: International Research Fellowship awarded by the German Research Foundation; Welcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle UK

2012: International Research Fellowship awarded by the German Academic Exchange Service; declined

2013-2014: Extension of International Research Fellowship by the German Research Foundation for postdoctoral studies at Newcastle University, Newcastle, UK

2014: “Sparkasse zu Lübeck AG” Founders Award

2016-2020: ATTRACT Career Development Award of the Luxembourg National Research Fund

Stipends and Scholarships

2011-2013: Career Development Award from the Medical Faculty of the University of Lübeck

2012-2013: International Research Fellowship awarded by the German Research Foundation, Welcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle UK

2013-2014: Extension of International Research Fellowship by the German Research Foundation for postdoctoral studies at Newcastle University, Newcastle, UK

2016-2020: ATTRACT Career Development Award of the Luxembourg National Research Fund (Tenure track, Associate Professor)

Grants (limited to current external funding and grants completed in 2018)

“Model-IPD: Modelling idiopathic Parkinson’s disease-associated somatic variation in dopaminergic neurons”

Principal Investigator: Anne Grünewald
Funding agency: Luxembourg National Research Fund
Funding period: 2016-2020
Amount: € 1,500,000

“Mitochondrial membrane potential and mtDNA blood biomarkers for stratification of mitochondrial Parkinson’s disease”

Co-Principal Investigator: Anne Grünewald
Funding agency: The Michael J. Fox Foundation
Funding period: 2018-2020
Amount: US$ 79,000 (for Luxembourg site)

“ProtectMove: Markers and Mechanisms of Reduced Penetrance in LRRK2 Mutation Carriers”

Principal Investigator: Anne Grünewald
Funding agency: Luxembourg National Research Fund
Funding period: 2017-2020
Amount: € 368,000

“Nucleo-Mito-Seq – Exploring genetic interactions between nuclear and mitochondrial somatic DNA variations in single postmortem PD neurons”

Co-Principal Investigators: Anne Grünewald and Patrick May
Funding agency: Luxembourg National Research Fund (NCER-PD Exploratory Grant)
Funding period: 2017-2019
Amount: € 55,000

“Exploring mitochondrial epigenetics as a cause of mitochondrial dysfunction in Parkinson's disease”

Co-Principal Investigator: Anne Grünewald
Funding agency: Personalized Medicine Consortium Luxembourg
Funding period: 2018-2019
Amount: € 50,000

“MiRisk-PD – Mitochondrial Risk factor in Parkinson's disease”; FNR11676395

Co-Principal Investigator: Anne Grünewald
Funding agency: Luxembourg National Research Fund
Funding period: 2018-2020
Amount: € 267,000 (funding for function WP)

“National Centre of Excellence in Research on Parkinson’s Disease (NCER-PD)”

Co-Principal Investigator: Anne Grünewald
Funding agency: Luxembourg National Research Fund
Funding period: 2019-2023
Amount: € ~200,000 (funding within Biomarkers & Mechanisms WP)

“Variable expressivity in SGCE-associated myoclonus dystonia: Insights from epigenetics and transcriptomics”

Co-Principal Investigators: Karen Grütz, Anne Grünewald and Christine Klein

Funding agency: Dystonia Medical Research Foundation
Funding period: 2019-2020
Amount: US$ 74,540

“CAMeSyn – Contribution of astrocyte Metabolism to Synucleopathy in Parkinson’s disease”; C19/BM/13688526

Principal Investigator: Anne Grünewald
Funding agency: Luxembourg National Research Fund
Amount: € 876,000
Funding period: 2020-2023

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 2023;10:1837-1849.
2. 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.
3. 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;1:102.
4. 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.
5. 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 2023;12:1857-1870.
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;in press.
7. Lüth T, Schaake S, Grünewald A, May P, Trinh J, Weissensteiner H. Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA. Front Genet 2022:887644.
8. 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.
9. 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. Journal of Neurology 2022;8:4195-4203.
10. 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.
11. 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.
12. 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. Frontiers in Neurology 2021:710572.
13. Kutschenko A, Staege S, Grütz K, Glaß H, Kalmbach N, Gschwendtberger T, Henkel LM, Heine J, Grünewald A, Hermann A, Seibler P, Wegner F. Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons. Int J Mol Sci 2021;7
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
21. Berenguer-Escuder C, Grossmann D, Massart F, Antony P, Burbulla LF, Glaab E, Imhoff S, Trinh J, Seibler P, Grünewald A, Krüger R. Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients. J Clin Med 2020;12
22. 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.
23. 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.
24. 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.
25. 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.
26. Grünewald A, Klein C. Urinary LRRK2 phosphorylation: Penetrating the thicket of Parkinson disease? Neurology 2016;11:984-985.
27. 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.
28. 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.
29. 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.
30. 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.
31. Kasten M, Grünewald A, Klein C. Next-generation phenotyping and genomic incidental findings–reply. JAMA Neurol 2013;12:1590-1591.
32. 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.
33. 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.
34. 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.
35. 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.
36. 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.
37. 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.
38. 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.
39. 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.
40. 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.
41. 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.
42. 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.
43. 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.
44. 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.
45. 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.
46. 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.
47. 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;2:331-332.
48. 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.
49. 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. Movement Disorders 2007;22 (14):2090-2096.
50. 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.
51. 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.
52. 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.
53. 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.