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Hereditary tauopathies and parkinsonism.
Wszolek ZK, Tsuboi Y, Farrer M, Uitti RJ, Hutton ML. Wszolek ZK, et al. Among authors: farrer m. Adv Neurol. 2003;91:153-63. Adv Neurol. 2003. PMID: 12442674 Review. No abstract available.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
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, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: farrer mj. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free article.
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: farrer mj. 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 negatively regulates glucose tolerance via regulation of membrane translocation of GLUT4 in adipocytes.
Kawakami F, Imai M, Isaka Y, Cookson MR, Maruyama H, Kubo M, Farrer MJ, Kanzaki M, Kawashima R, Maekawa T, Tamaki S, Kurosaki Y, Kojima F, Ohba K, Ichikawa T. Kawakami F, et al. Among authors: farrer mj. FEBS Open Bio. 2023 Dec;13(12):2200-2214. doi: 10.1002/2211-5463.13717. Epub 2023 Oct 26. FEBS Open Bio. 2023. PMID: 37845194 Free PMC article.
475 results