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Page 1
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: encarnacion m. Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1. Mov Disord. 2013. PMID: 23457019
DNAJC13 mutations in Parkinson disease.
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ. Vilariño-Güell C, et al. Among authors: encarnacion m. Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11. Hum Mol Genet. 2014. PMID: 24218364 Free PMC article.
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: encarnacion m. 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.
Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.
Bernales CQ, Encarnacion M, Criscuoli MG, Yee IM, Traboulsee AL, Sadovnick AD, Vilariño-Güell C. Bernales CQ, et al. Among authors: encarnacion m. Immunogenetics. 2018 Mar;70(3):205-207. doi: 10.1007/s00251-017-1034-2. Epub 2017 Oct 7. Immunogenetics. 2018. PMID: 28988323
Analysis of galanin receptor GALR2 in multiple sclerosis.
Encarnacion M, Bernales CQ, Traboulsee AL, Sadovnick AD, Vilariño-Güell C. Encarnacion M, et al. Pharmacogenomics J. 2019 Dec;19(6):499-500. doi: 10.1038/s41397-019-0100-6. Epub 2019 Oct 14. Pharmacogenomics J. 2019. PMID: 31611593 No abstract available.
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. Among authors: encarnacion m. Neuron. 2016 Jun 1;90(5):948-54. doi: 10.1016/j.neuron.2016.04.039. Neuron. 2016. PMID: 27253448 Free PMC article.
42 results