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Page 1
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.
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. Update in: Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2 PMID: 38293014 Free PMC article. Updated. 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.
Translation initiator EIF4G1 mutations in familial Parkinson disease.
Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Chartier-Harlin MC, et al. Among authors: vilarino guell c. Am J Hum Genet. 2011 Sep 9;89(3):398-406. doi: 10.1016/j.ajhg.2011.08.009. Am J Hum Genet. 2011. PMID: 21907011 Free PMC article.
Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel.
Djaldetti R, Hassin-Baer S, Farrer MJ, Vilariño-Güell C, Ross OA, Kolianov V, Yust-Katz S, Treves TA, Barhum Y, Hulihan M, Melamed E. Djaldetti R, et al. Among authors: vilarino guell c. J Neural Transm (Vienna). 2008 Sep;115(9):1279-84. doi: 10.1007/s00702-008-0074-z. Epub 2008 Jul 30. J Neural Transm (Vienna). 2008. PMID: 18665323
Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilariño-Güell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ. Ross OA, et al. Among authors: vilarino guell c. Parkinsonism Relat Disord. 2008 Nov;14(7):544-7. doi: 10.1016/j.parkreldis.2008.07.002. Epub 2008 Aug 22. Parkinsonism Relat Disord. 2008. PMID: 18722802 Free PMC article.
117 results