Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

117 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt JA, Traboulsee AL, Encarnacion M, Bernales CQ, Follett J, Yee IM, Criscuoli MG, Deutschländer A, Reinthaler EM, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick AD. Vilariño-Güell C, et al. PLoS Genet. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180. eCollection 2019 Jun. PLoS Genet. 2019. PMID: 31170158 Free PMC article.
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. 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. 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.
SLC1A2 rs3794087 does not associate with essential tremor.
Ross JP, Rayaprolu S, Bernales CQ, Soto-Ortolaza AI, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput A, Rajput AH, Rajput ML, Ross OA, Vilariño-Güell C. Ross JP, et al. Neurobiol Aging. 2014 Apr;35(4):935.e9-10. doi: 10.1016/j.neurobiolaging.2013.09.022. Epub 2013 Oct 16. Neurobiol Aging. 2014. PMID: 24139280 Free PMC article.
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. 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.
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.
VPS35 and DNAJC13 disease-causing variants in essential tremor.
Rajput A, Ross JP, Bernales CQ, Rayaprolu S, Soto-Ortolaza AI, Ross OA, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput AH, Vilariño-Güell C. Rajput A, et al. Eur J Hum Genet. 2015 Jun;23(6):887-8. doi: 10.1038/ejhg.2014.164. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118025 Free PMC article.
117 results