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Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis.
Ramasamy A, Trabzuni D, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S; North American Brain Expression Consortium (NABEC), UK Brain Expression Consortium (UKBEC); Hardy J, Weale ME, Ryten M. Ramasamy A, et al. Among authors: forabosco p. Mult Scler Relat Disord. 2014 Mar;3(2):211-219. doi: 10.1016/j.msard.2013.08.009. Mult Scler Relat Disord. 2014. PMID: 25568836 Free PMC article.
Genetic variability in the regulation of gene expression in ten regions of the human brain.
Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T; UK Brain Expression Consortium; North American Brain Expression Consortium; Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, Weale ME. Ramasamy A, et al. Nat Neurosci. 2014 Oct;17(10):1418-1428. doi: 10.1038/nn.3801. Epub 2014 Aug 31. Nat Neurosci. 2014. PMID: 25174004 Free PMC article.
Insights into TREM2 biology by network analysis of human brain gene expression data.
Forabosco P, Ramasamy A, Trabzuni D, Walker R, Smith C, Bras J, Levine AP, Hardy J, Pocock JM, Guerreiro R, Weale ME, Ryten M. Forabosco P, et al. Neurobiol Aging. 2013 Dec;34(12):2699-714. doi: 10.1016/j.neurobiolaging.2013.05.001. Epub 2013 Jul 12. Neurobiol Aging. 2013. PMID: 23855984 Free PMC article.
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); UK Brain Expression Consortium (UKBEC); Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M. Guelfi S, et al. Nat Commun. 2020 Feb 25;11(1):1041. doi: 10.1038/s41467-020-14483-x. Nat Commun. 2020. PMID: 32098967 Free PMC article.
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW; United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s Disease Genomics Consortium (IPDGC). Kia DA, et al. JAMA Neurol. 2021 Apr 1;78(4):464-472. doi: 10.1001/jamaneurol.2020.5257. JAMA Neurol. 2021. PMID: 33523105 Free PMC article.
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Mencacci NE, Reynolds R, Ruiz SG, Vandrovcova J, Forabosco P, Sánchez-Ferrer A, Volpato V; UK Brain Expression Consortium; International Parkinson’s Disease Genomics Consortium; Weale ME, Bhatia KP, Webber C, Hardy J, Botía JA, Ryten M. Mencacci NE, et al. Among authors: forabosco p. Brain. 2020 Sep 1;143(9):2771-2787. doi: 10.1093/brain/awaa217. Brain. 2020. PMID: 32889528 Free PMC article.
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H; United Kingdom Brain Expression Consortium. Bettencourt C, et al. Among authors: forabosco p. JAMA Neurol. 2014 Jul 1;71(7):831-9. doi: 10.1001/jamaneurol.2014.756. JAMA Neurol. 2014. PMID: 24862029 Free PMC article. Clinical Trial.
Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.
Wain LV, Shrine N, Miller S, Jackson VE, Ntalla I, Soler Artigas M, Billington CK, Kheirallah AK, Allen R, Cook JP, Probert K, Obeidat M, Bossé Y, Hao K, Postma DS, Paré PD, Ramasamy A; UK Brain Expression Consortium (UKBEC); Mägi R, Mihailov E, Reinmaa E, Melén E, O'Connell J, Frangou E, Delaneau O; OxGSK Consortium; Freeman C, Petkova D, McCarthy M, Sayers I, Deloukas P, Hubbard R, Pavord I, Hansell AL, Thomson NC, Zeggini E, Morris AP, Marchini J, Strachan DP, Tobin MD, Hall IP. Wain LV, et al. Lancet Respir Med. 2015 Oct;3(10):769-81. doi: 10.1016/S2213-2600(15)00283-0. Epub 2015 Sep 27. Lancet Respir Med. 2015. PMID: 26423011 Free PMC article.
59 results