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Page 1
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.
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.
Common genetic variants influence human subcortical brain structures.
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala… See abstract for full author list ➔ Hibar DP, et al. Among authors: weale me. Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21. Nature. 2015. PMID: 25607358 Free PMC article.
Novel genetic loci associated with hippocampal volume.
Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chen Q, Ching CRK, Chouraki V, Cuellar-Partida G, Crivello F, Den Braber A, Doan NT, Ehrlich S, Giddaluru S, Goldman AL, Gottesman RF, Grimm O, Griswold ME, Guadalupe T, Gutman BA, Hass J, Haukvik UK, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Jørgensen KN, Karbalai N, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liewald DCM, Lopez LM, Luciano M, Macare C, Marquand AF, Matarin M, Mather KA, Mattheisen M, McKay DR, Milaneschi Y, Muñoz Maniega S, Nho K, Nugent AC, Nyquist P, Loohuis LMO, Oosterlaan J, Papmeyer M, Pirpamer L, Pütz B, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Ropele S, Rose EJ, Royle NA, Rundek T, Sämann PG, Saremi A, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Tordesillas-Gutierrez D, Toro R, Trabz… See abstract for full author list ➔ Hibar DP, et al. Among authors: weale me. Nat Commun. 2017 Jan 18;8:13624. doi: 10.1038/ncomms13624. Nat Commun. 2017. PMID: 28098162 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.
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FMK, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor B, Trabzuni D; North American Brain Expression Consortium; UK Brain Expression Consortium; Rossin E, Lage K, Jacobs SBR, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D, Palotie A. Anttila V, et al. Nat Genet. 2013 Aug;45(8):912-917. doi: 10.1038/ng.2676. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793025 Free PMC article.
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer's Disease Genetics Consortium; Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R. Holton P, et al. Among authors: weale me. Ann Hum Genet. 2013 Mar;77(2):85-105. doi: 10.1111/ahg.12000. Epub 2013 Jan 30. Ann Hum Genet. 2013. PMID: 23360175 Free PMC article.
129 results