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Dokumenttyp:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't 
Autor(en):
Sharma, M; Ioannidis, JP; Aasly, JO; Annesi, G; Brice, A; Bertram, L; Bozi, M; Barcikowska, M; Crosiers, D; Clarke, CE; Facheris, MF; Farrer, M; Garraux, G; Gispert, S; Auburger, G; Vilarino-Guell, C; Hadjigeorgiou, GM; Hicks, AA; Hattori, N; Jeon, BS; Jamrozik, Z; Krygowska-Wajs, A; Lesage, S; Lill, CM; Lin, JJ; Lynch, T; Lichtner, P; Lang, AE; Libioulle, C; Murata, M; Mok, V; Jasinska-Myga, B; Mellick, GD; Morrison, KE; Meitnger, T; Zimprich, A; Opala, G; Pramstaller, PP; Pichler, I; Park, SS;...    »
 
Titel:
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. 
Abstract:
Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 spor...    »
 
Zeitschriftentitel:
J Med Genet 
Jahr:
2012 
Band / Volume:
49 
Heft / Issue:
11 
Seitenangaben Beitrag:
721-6 
Sprache:
eng 
Print-ISSN:
0022-2593 
TUM Einrichtung:
Institut für Humangenetik