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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: 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.
Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.
Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C. Wang Z, et al. Neuron. 2016 Oct 19;92(2):331-332. doi: 10.1016/j.neuron.2016.10.008. Neuron. 2016. PMID: 27764666 Free article. No abstract available.
Analysis of CYP27B1 in multiple sclerosis.
Ross JP, Bernales CQ, Lee JD, Sadovnick AD, Traboulsee AL, Vilariño-Güell C. Ross JP, et al. J Neuroimmunol. 2014 Jan 15;266(1-2):64-6. doi: 10.1016/j.jneuroim.2013.11.006. Epub 2013 Nov 23. J Neuroimmunol. 2014. PMID: 24308945 Free PMC article.
PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton.
Vilariño-Güell C, Miles LJ, Duncan EL, Ralston SH, Compston JE, Cooper C, Langdahl BL, Maclelland A, Pols HA, Reid DM, Uitterlinden AG, Steer CD, Tobias JH, Wass JA, Brown MA. Vilariño-Güell C, et al. Calcif Tissue Int. 2007 Oct;81(4):270-8. doi: 10.1007/s00223-007-9072-7. Epub 2007 Sep 21. Calcif Tissue Int. 2007. PMID: 17885720
ATP13A2 variability in Parkinson disease.
Vilariño-Güell C, Soto AI, Lincoln SJ, Ben Yahmed S, Kefi M, Heckman MG, Hulihan MM, Chai H, Diehl NN, Amouri R, Rajput A, Mash DC, Dickson DW, Middleton LT, Gibson RA, Hentati F, Farrer MJ. Vilariño-Güell C, et al. Hum Mutat. 2009 Mar;30(3):406-10. doi: 10.1002/humu.20877. Hum Mutat. 2009. PMID: 19085912 Free PMC article.
117 results