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Page 1
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: rajput a. 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.
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: rajput a. JAMA Neurol. 2022 Feb 1;79(2):185-193. doi: 10.1001/jamaneurol.2021.4781. JAMA Neurol. 2022. PMID: 34982113 Free PMC article.
Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A, Labbé C, Vilariño-Güell C, Rajput A, Rajput AH, Pastor P, Ortega S, Lorenzo E, Strongosky AJ, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA. Lorenzo-Betancor O, et al. Among authors: rajput a, rajput ah. PLoS One. 2014 Nov 6;9(11):e111989. doi: 10.1371/journal.pone.0111989. eCollection 2014. PLoS One. 2014. PMID: 25375143 Free PMC article.
Genome-wide association study in essential tremor identifies three new loci.
Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA. Müller SH, et al. Among authors: rajput a, rajput ah. Brain. 2016 Dec;139(Pt 12):3163-3169. doi: 10.1093/brain/aww242. Epub 2016 Oct 20. Brain. 2016. PMID: 27797806 Free PMC article.
Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA. Schmouth JF, et al. Among authors: rajput a. Mol Neurobiol. 2019 Jun;56(6):4317-4321. doi: 10.1007/s12035-018-1369-1. Epub 2018 Oct 12. Mol Neurobiol. 2019. PMID: 30315477
No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.
Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, Rouleau GA. Houle G, et al. Among authors: rajput a. Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 30584593 Free PMC article.
Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.
Liao C, Sarayloo F, Rochefort D, Houle G, Akçimen F, He Q, Laporte AD, Spiegelman D, Poewe W, Berg D, Müller S, Hopfner F, Deuschl G, Kuhlenbäeumer G, Rajput A, Dion PA, Rouleau GA. Liao C, et al. Among authors: rajput a. Mov Disord. 2020 Jul;35(7):1153-1162. doi: 10.1002/mds.28031. Epub 2020 Apr 6. Mov Disord. 2020. PMID: 32249994
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
Liao C, Akçimen F, Diez-Fairen M, Houle G, Ross JP, Schmilovich Z, Spiegelman D, Vuokila V, Catoire H, Meijer IA, Pastor P, Rajput A, Dion PA, Rouleau GA. Liao C, et al. Among authors: rajput a. Brain. 2020 Dec 5;143(11):e89. doi: 10.1093/brain/awaa291. Brain. 2020. PMID: 33146671 No abstract available.
660 results