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

    Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Bertram, L.; Bozi, M.; Barcikowska, M.; Crosiers, D.; Clarke, C. E.; Facheris, M. F.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilarino-Guell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B. S.; Jamrozik, Z.; Krygowska-Wajs, A.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Libioulle, C.; Murata, M.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Meitnger, T.; Zimprich, A.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Strom, T. M.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yomono, H. S.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Kruger, R.; Consortium, Geopd (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 described, ...