| Deciphering the role of heterozygous mutations in genes associated with parkinsonism C Klein, K Lohmann-Hedrich, E Rogaeva, MG Schlossmacher, AE Lang The Lancet Neurology 6 (7), 652-662, 2007 | 353 | 2007 |
| Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers PP Pramstaller, MG Schlossmacher, TS Jacques, F Scaravilli, C Eskelson, ... Annals of neurology 58 (3), 411-422, 2005 | 318 | 2005 |
| Distribution, type, and origin of Parkin mutations: Review and case studies K Hedrich, C Eskelson, B Wilmot, K Marder, J Harris, J Garrels, ... Movement disorders: official journal of the Movement Disorder Society 19 (10 …, 2004 | 317 | 2004 |
| N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force C Marras, A Lang, BP van de Warrenburg, CM Sue, SJ Tabrizi, L Bertram, ... Movement Disorders 31 (4), 436-457, 2016 | 314 | 2016 |
| Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ... Nature genetics 45 (9), 1077-1082, 2013 | 310 | 2013 |
| Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study KC Djarmati A1, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J ... The Lancet Neurology 8 (5), 447-452, 2009 | 285* | 2009 |
| DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease K Hedrich, A Djarmati, N Schafer, R Hering, C Wellenbrock, PH Weiss, ... Neurology 62 (3), 389-394, 2004 | 282 | 2004 |
| Genotype‐Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review M Kasten, C Hartmann, J Hampf, S Schaake, A Westenberger, ... Movement Disorders 33 (5), 730-741, 2018 | 268 | 2018 |
| Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts A Rakovic, A Grünewald, J Kottwitz, N Brüggemann, PP Pramstaller, ... PloS one 6 (3), e16746, 2011 | 259 | 2011 |
| Evaluation of 50 probands with early-onset Parkinson’s disease for Parkin mutations K Hedrich, K Marder, J Harris, M Kann, T Lynch, H Meija–Santana, ... Neurology 58 (8), 1239-1246, 2002 | 212 | 2002 |
| The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism K Hedrich, M Kann, AJ Lanthaler, A Dalski, C Eskelson, O Landt, ... Human molecular genetics 10 (16), 1649-1656, 2001 | 205 | 2001 |
| Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort B Mollenhauer, E Trautmann, F Sixel-Döring, T Wicke, J Ebentheuer, ... Neurology 81 (14), 1226-1234, 2013 | 202 | 2013 |
| Next generation sequencing and the future of genetic diagnosis K Lohmann, C Klein Neurotherapeutics 11 (4), 699-707, 2014 | 199 | 2014 |
| Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts A Grünewald, L Voges, A Rakovic, M Kasten, H Vandebona, ... PloS one 5 (9), e12962, 2010 | 188 | 2010 |
| Evidence that paternal expression of the ε-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia B Müller, K Hedrich, N Kock, N Dragasevic, M Svetel, J Garrels, O Landt, ... The American Journal of Human Genetics 71 (6), 1303-1311, 2002 | 187 | 2002 |
| Impact of recent genetic findings in Parkinson's disease C Klein, K Lohmann-Hedrich Current opinion in neurology 20 (4), 453-464, 2007 | 186 | 2007 |
| Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene K Lohmann, RA Wilcox, S Winkler, A Ramirez, A Rakovic, JS Park, B Arns, ... Annals of neurology 73 (4), 537-545, 2013 | 175 | 2013 |
| PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism C Klein, A Djarmati, K Hedrich, N Schäfer, C Scaglione, R Marchese, ... European journal of human genetics 13 (9), 1086-1093, 2005 | 172 | 2005 |
| Role of parkin mutations in 111 community‐based patients with early‐onset parkinsonism M Kann, H Jacobs, K Mohrmann, K Schumacher, K Hedrich, J Garrels, ... Annals of neurology 51 (5), 621-625, 2002 | 168 | 2002 |
| Genotype‐phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review J Trinh, FMJ Zeldenrust, J Huang, M Kasten, S Schaake, S Petkovic, ... Movement Disorders 33 (12), 1857-1870, 2018 | 159 | 2018 |
