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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 PMC article.
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.
Trinh J, Gustavsson EK, Vilariño-Güell C, Bortnick S, Latourelle J, McKenzie MB, Tu CS, Nosova E, Khinda J, Milnerwood A, Lesage S, Brice A, Tazir M, Aasly JO, Parkkinen L, Haytural H, Foroud T, Myers RH, Sassi SB, Hentati E, Nabli F, Farhat E, Amouri R, Hentati F, Farrer MJ. Trinh J, et al. Among authors: farrer mj. Lancet Neurol. 2016 Nov;15(12):1248-1256. doi: 10.1016/S1474-4422(16)30203-4. Epub 2016 Sep 28. Lancet Neurol. 2016. PMID: 27692902
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.
Advances in the genetics of Parkinson disease.
Trinh J, Farrer M. Trinh J, et al. Nat Rev Neurol. 2013 Aug;9(8):445-54. doi: 10.1038/nrneurol.2013.132. Epub 2013 Jul 16. Nat Rev Neurol. 2013. PMID: 23857047 Review.
LRRK2; a dynamic regulator of cellular trafficking.
Follett J, Farrer MJ. Follett J, et al. Among authors: farrer mj. Brain Res. 2021 Mar 2;1761:147394. doi: 10.1016/j.brainres.2021.147394. Online ahead of print. Brain Res. 2021. PMID: 33662339
STX6 rs1411478 is not associated with increased risk of Parkinson's disease.
Trinh J, Vilariño-Güell C, Donald A, Shah B, Yu I, Szu-Tu C, Aasly JO, Wu RM, Hentati F, Rajput AH, Rajput A, Farrer MJ. Trinh J, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2013 May;19(5):563-5. doi: 10.1016/j.parkreldis.2013.01.019. Epub 2013 Feb 14. Parkinsonism Relat Disord. 2013. PMID: 23415606
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, Sherman H, Yu I, Shah B, Weir D, Thompson C, Szu-Tu C, Trinh J, Aasly JO, Rajput A, Rajput AH, Jon Stoessl A, Farrer MJ. Appel-Cresswell S, et al. Among authors: farrer mj. Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1. Mov Disord. 2013. PMID: 23457019
Identification of FUS p.R377W in essential tremor.
Rajput A, Rajput AH, Rajput ML, Encarnacion M, Bernales CQ, Ross JP, Farrer MJ, Vilariño-Güell C. Rajput A, et al. Among authors: farrer mj. Eur J Neurol. 2014 Feb;21(2):361-3. doi: 10.1111/ene.12231. Epub 2013 Jul 3. Eur J Neurol. 2014. PMID: 23834483 Free PMC article.
371 results