A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

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 described, their pathogenic role yet remains inconclusive. METHODS AND RESULTS: We pe...

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Detalhes bibliográficos
Main Authors: Sharma, Manu, Ioannidis, John P A, Aasly, Jan O, Annesi, Grazia, Brice, Alexis, Bertram, Lars, Bozi, Maria, Barcikowska, Maria, Crosiers, David, Clarke, Carl E, Facheris, Maurizio F, Farrer, Matthew, Garraux, Gaetan, Gispert, Suzana, Auburger, Georg, Vilariño-Güell, Carles, Hadjigeorgiou, Georgios M, Hicks, Andrew A, Hattori, Nobutaka, Jeon, Beom S, Jamrozik, Zygmunt, Krygowska-Wajs, Anna, Lesage, Suzanne, Lill, Christina M, Lin, Juei-Jueng, Lynch, Timothy, Lichtner, Peter, Lang, Anthony E, Libioulle, Cecile, Murata, Miho, Mok, Vincent, Jasinska-Myga, Barbara, Mellick, George D, Morrison, Karen E, Meitnger, Thomas, Zimprich, Alexander, Opala, Grzegorz, Pramstaller, Peter P, Pichler, Irene, Park, Sung Sup, Quattrone, Aldo, Rogaeva, Ekaterina, Ross, Owen A., Stefanis, Leonidas, Stockton, Joanne D, Satake, Wataru, Silburn, Peter A, Strom, Tim M, Theuns, Jessie, Tan, Eng- King, Toda, Tatsushi, Tomiyama, Hiroyuki, Uitti, Ryan J, Van Broeckhoven, Christine, Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Yomono, Harumi S, Yueh, Kuo-Chu, Zhao, Yi, Gasser, Thomas, Maraganore, Demetrius, Krüger, Rejko
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2012
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3488700/
https://ncbi.nlm.nih.gov/pubmed/23125461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101155
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