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Page 1
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: vilarino guell c. 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.
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: vilarino guell c. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.
Esposito F, Osiceanu AM, Sorosina M, Ottoboni L, Bollman B, Santoro S, Bettegazzi B, Zauli A, Clarelli F, Mascia E, Calabria A, Zacchetti D, Capra R, Ferrari M, Provero P, Lazarevic D, Cittaro D, Carrera P, Patsopoulos N, Toniolo D, Sadovnick AD, Martino G, De Jager PL, Comi G, Stupka E, Vilariño-Güell C, Piccio L, Martinelli Boneschi F. Esposito F, et al. Among authors: vilarino guell c. Genes (Basel). 2022 Dec 16;13(12):2392. doi: 10.3390/genes13122392. Genes (Basel). 2022. PMID: 36553660 Free PMC article.
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Trinh J, et al. Among authors: vilarino guell c. Brain. 2023 Jul 3;146(7):2753-2765. doi: 10.1093/brain/awac464. Brain. 2023. PMID: 36478228 Free PMC article.
Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.
Liao C, Castonguay CE, Heilbron K, Vuokila V, Medeiros M, Houle G, Akçimen F, Ross JP, Catoire H, Diez-Fairen M, Kang J, Mueller SH, Girard SL, Hopfner F, Lorenz D, Clark LN, Soto-Beasley AI, Klebe S, Hallett M, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Seppi K, Berg D, Vilariño-Güell C, Postuma RB, Bernard G, Dupré N, Jankovic J, Testa CM, Ross OA, Arzberger T, Chouinard S, Louis ED, Mandich P, Vitale C, Barone P, García-Martín E, Alonso-Navarro H, Agúndez JAG, Jiménez-Jiménez FJ, Pastor P, Rajput A, Deuschl G, Kuhlenbaümer G, Meijer IA, Dion PA, Rouleau GA; 23andMe Research Team. Liao C, et al. Among authors: vilarino guell c. JAMA Neurol. 2022 Feb 1;79(2):185-193. doi: 10.1001/jamaneurol.2021.4781. JAMA Neurol. 2022. PMID: 34982113 Free PMC article.
Exome-wide rare variant analysis in familial essential tremor.
Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics (UWCMG); Aguilar M, Tartari JP, Gironell A, García-Martín E, Agundez JA, Alonso-Navarro H, Jimenez-Jimenez FJ, Fernandez M, Valldeoriola F, Marti MJ, Tolosa E, Coria F, Pastor MA, Vilariño-Güell C, Rajput A, Dion PA, Cruchaga C, Rouleau GA, Pastor P. Diez-Fairen M, et al. Among authors: vilarino guell c. Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24. Parkinsonism Relat Disord. 2021. PMID: 33279834 Free PMC article.
117 results