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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. Trabzuni D, et al. Among authors: weale me. Hum Mol Genet. 2012 Sep 15;21(18):4094-103. doi: 10.1093/hmg/dds238. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723018 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. Among authors: weale me. 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.
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J; UK Brain Expression Consortium; Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R. Ferrari R, et al. Among authors: weale me. Neurobiol Aging. 2014 Jun;35(6):1514.e1-12. doi: 10.1016/j.neurobiolaging.2014.01.010. Epub 2014 Jan 13. Neurobiol Aging. 2014. PMID: 24503276 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: weale me. Brain. 2020 Sep 1;143(9):2771-2787. doi: 10.1093/brain/awaa217. Brain. 2020. PMID: 32889528 Free PMC article.
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.
Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J; International Parkinson Disease Genomics Consortium (IPDGC); Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A, Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J, Plagnol V. Trabzuni D, et al. Among authors: weale me. PLoS One. 2013 Aug 13;8(8):e70724. doi: 10.1371/journal.pone.0070724. eCollection 2013. PLoS One. 2013. PMID: 23967090 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. Among authors: weale me. 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.
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: weale me. 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.
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. Among authors: weale me. Nat Commun. 2020 Feb 25;11(1):1041. doi: 10.1038/s41467-020-14483-x. Nat Commun. 2020. PMID: 32098967 Free PMC article.
129 results