Second consensus statement on the diagnosis of multiple system atrophy S Gilman, GK Wenning, PA Low, DJ Brooks, CJ Mathias, JQ Trojanowski, ... Neurology 71 (9), 670-676, 2008 | 3320 | 2008 |
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease E Sidransky, MA Nalls, JO Aasly, J Aharon-Peretz, G Annesi, ER Barbosa, ... New England Journal of Medicine 361 (17), 1651-1661, 2009 | 2266 | 2009 |
Association between early-onset Parkinson's disease and mutations in the parkin gene CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ... New England Journal of Medicine 342 (21), 1560-1567, 2000 | 1921 | 2000 |
Scale for the assessment and rating of ataxia: development of a new clinical scale T Schmitz-Hubsch, ST Du Montcel, L Baliko, J Berciano, S Boesch, ... Neurology 66 (11), 1717-1720, 2006 | 1895 | 2006 |
Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease P Ibanez, AM Bonnet, B Debarges, E Lohmann, F Tison, Y Agid, A Dürr, ... The Lancet 364 (9440), 1169-1171, 2004 | 1337 | 2004 |
Clinical and genetic abnormalities in patients with Friedreich's ataxia A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, JL Mandel, ... New England Journal of Medicine 335 (16), 1169-1175, 1996 | 1249 | 1996 |
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats G Imbert, F Saudou, G Yvert, D Devys, Y Trottier, JM Garnier, C Weber, ... Nature genetics 14 (3), 285-291, 1996 | 1007 | 1996 |
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, ... Nature genetics 17 (1), 65-70, 1997 | 957 | 1997 |
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, ... Human molecular genetics 6 (11), 1771-1780, 1997 | 902 | 1997 |
G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome S Lesage, M Anheim, F Letournel, L Bousset, A Honoré, N Rozas, L Pieri, ... Annals of neurology 73 (4), 459-471, 2013 | 857 | 2013 |
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, ... Nature genetics 23 (3), 296-303, 1999 | 758 | 1999 |
A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe N Abbas, CB Lücking, S Ricard, A Dürr, V Bonifati, G De Michele, ... Human molecular genetics 8 (4), 567-574, 1999 | 700 | 1999 |
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs S Lesage, A Dürr, M Tazir, E Lohmann, AL Leutenegger, S Janin, P Pollak, ... New England Journal of Medicine 354 (4), 422-423, 2006 | 681 | 2006 |
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ... Nature genetics 48 (9), 1043-1048, 2016 | 603 | 2016 |
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 MC Moreira, S Klur, M Watanabe, AH Németh, IL Ber, JC Moniz, ... Nature genetics 36 (3), 225-227, 2004 | 577 | 2004 |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 488 | 1999 |
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 JJ Hansen, A Dürr, I Cournu-Rebeix, C Georgopoulos, D Ang, ... The American Journal of Human Genetics 70 (5), 1328-1332, 2002 | 464 | 2002 |
Spectrin mutations cause spinocerebellar ataxia type 5 Y Ikeda, KA Dick, MR Weatherspoon, D Gincel, KR Armbrust, JC Dalton, ... Nature genetics 38 (2), 184-190, 2006 | 426 | 2006 |
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions M Holmberg, C Duyckaerts, A Dürr, G Cancel, I Gourfinkel-An, P Damier, ... Human molecular genetics 7 (5), 913-918, 1998 | 426 | 1998 |
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ... The American Journal of Human Genetics 98 (3), 500-513, 2016 | 413 | 2016 |