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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: lesage s. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
[LRRK2 is a major gene in North African parkinsonism].
Lesage S, Dürr A, Brice A. Lesage S, et al. Med Sci (Paris). 2006 May;22(5):470-1. doi: 10.1051/medsci/2006225470. Med Sci (Paris). 2006. PMID: 16687108 Free article. French. No abstract available.
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Ishihara L, et al. Among authors: lesage s. Arch Neurol. 2006 Sep;63(9):1250-4. doi: 10.1001/archneur.63.9.1250. Arch Neurol. 2006. PMID: 16966502
Role of mendelian genes in "sporadic" Parkinson's disease.
Lesage S, Brice A. Lesage S, et al. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S66-70. doi: 10.1016/S1353-8020(11)70022-0. Parkinsonism Relat Disord. 2012. PMID: 22166458 Free article. Review.
403 results