Now showing items 1-3 of 3

  • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease 

    Wang L; Aasly JO; Annesi G; Bardien S; Bozi M; Brice A; Carr J; Chung SJ; Clarke C; Crosiers D; Deutschländer A; Eckstein G; Farrer MJ; Goldwurm S; Garraux G; Hadjigeorgiou GM; Hicks AA; Hattori N; Klein C; Jeon B; Kim YJ; Lesage S; Lin JJ; Lynch T; Lichtner P; Lang AE; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Opala G; Pihlstrøm L; Pramstaller PP; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Silburn PA; Theuns J; Tan EK; Tomiyama H; Toft M; Van Broeckhoven C; Uitti RJ; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yueh KC; Zhao Y; Gasser T; Maraganore DM; Krüger R; Sharma M; GEO-PD Consortium (2015)
    OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the ...
  • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

    Sharma M; Ioannidis JP; Aasly JO; Annesi G; Brice A; Van Broeckhoven C; Bertram L; Bozi M; Crosiers D; Clarke C; Facheris M; Farrer M; Garraux G; Gispert S; Auburger G; Vilariño-Güell C; Hadjigeorgiou GM; Hicks AA; Hattori N; Jeon B; Lesage S; Lill CM; Lin JJ; Lynch T; Lichtner P; Lang AE; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Opala G; Pramstaller PP; Pichler I; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Satake W; Silburn PA; Theuns J; Tan EK; Toda T; Tomiyama H; Uitti RJ; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yueh KC; Zhao Y; Gasser T; Maraganore D; Krüger R; GEO-PD Consortium (2012)
    OBJECTIVE: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...
  • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants 

    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; Vilariño-Güell 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; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Satake W; Silburn PA; Strom TM; Theuns J; Tan EK; Toda T; Tomiyama H; Uitti RJ; Van Broeckhoven C; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yomono HS; Yueh KC; Zhao Y; Gasser T; Maraganore D; Krüger R; GEO-PD Consortium (2012)
    BACKGROUND: 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 ...