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Durr Alexandra
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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
21412008
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
16212000
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
14222009
Scale for the assessment and rating of ataxia: development of a new clinical scale
T Schmitz-Hübsch, ST Du Montcel, L Baliko, J Berciano, S Boesch, ...
Neurology 66 (11), 1717-1720, 2006
11102006
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
10492004
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
10081996
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
8731996
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
8351997
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
7621997
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
6411999
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
6181999
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
5752006
Multiple system atrophy
GK Wenning, C Colosimo, F Geser, W Poewe
The Lancet Neurology 3 (2), 93-103, 2004
5182004
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
5032013
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
MC Moreira, S Klur, M Watanabe, AH Németh, I Le Ber, JC Moniz, ...
Nature genetics 36 (3), 225-227, 2004
4602004
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
4011999
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
3812002
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
3641998
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
3432006
Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
M Periquet, M Latouche, E Lohmann, N Rawal, G De Michele, S Ricard, ...
Brain 126 (6), 1271-1278, 2003
3202003
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Artikelen 1–20