Genetics of Parkinson’s disease C Klein, A Westenberger Cold Spring Harbor perspectives in medicine 2 (1), a008888, 2012 | 1667 | 2012 |
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ... The Lancet Neurology 10 (10), 898-908, 2011 | 355 | 2011 |
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 | 327 | 2013 |
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 | 304 | 2018 |
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 | 288 | 2004 |
The evolving spectrum of PRRT2-associated paroxysmal diseases D Ebrahimi-Fakhari, A Saffari, A Westenberger, C Klein Brain 138 (12), 3476-3495, 2015 | 283 | 2015 |
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP KM Scaglione, E Zavodszky, SV Todi, S Patury, P Xu, ... Molecular cell 43 (4), 599-612, 2011 | 197 | 2011 |
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study A Djarmati, SA Schneider, K Lohmann, S Winkler, H Pawlack, J Hagenah, ... The Lancet Neurology 8 (5), 447-452, 2009 | 195 | 2009 |
The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability TM Durcan, M Kontogiannea, T Thorarinsdottir, L Fallon, AJ Williams, ... Human molecular genetics 20 (1), 141-154, 2011 | 182 | 2011 |
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 | 177 | 2005 |
Large-scale replication and heterogeneity in Parkinson disease genetic loci M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, ... Neurology 79 (7), 659-667, 2012 | 158 | 2012 |
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? K Hedrich, J Hagenah, A Djarmati, A Hiller, T Lohnau, K Lasek, ... Archives of neurology 63 (6), 833-838, 2006 | 155 | 2006 |
Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA) S A Schneider, P Dusek, J Hardy, A Westenberger, J Jankovic, K P Bhatia Current neuropharmacology 11 (1), 59-79, 2013 | 141 | 2013 |
Myoclonus‐dystonia: significance of large SGCE deletions A Grünewald, A Djarmati, K Lohmann‐Hedrich, K Farrell, JA Zeller, ... Human mutation 29 (2), 331-332, 2008 | 135 | 2008 |
Phenotypic insights into ADCY5‐associated disease FCF Chang, A Westenberger, RC Dale, M Smith, HS Pall, ... Movement Disorders 31 (7), 1033-1040, 2016 | 131 | 2016 |
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients A Djarmati, K Hedrich, M Svetel, N Schäfer, V Juric, S Vukosavic, ... Human mutation 23 (5), 525-525, 2004 | 114 | 2004 |
Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review LM Lange, J Junker, S Loens, H Baumann, L Olschewski, S Schaake, ... Movement Disorders 36 (5), 1086-1103, 2021 | 109 | 2021 |
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization V Tadic, A Westenberger, A Domingo, D Alvarez-Fischer, C Klein, ... JAMA neurology 72 (4), 460-467, 2015 | 96 | 2015 |
Genetics of Parkinson's disease KR Kumar, A Djarmati-Westenberger, A Grünewald Seminars in neurology 31 (05), 433-440, 2011 | 96 | 2011 |
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype N Brüggemann, J Hagenah, K Reetz, A Schmidt, M Kasten, I Buchmann, ... Archives of neurology 67 (11), 1357-1363, 2010 | 93 | 2010 |