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Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH. McAllister B, et al. Among authors: allen nd. Nat Neurosci. 2022 Apr;25(4):446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379994 Free PMC article.
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
Wray S, Self M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium; Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J. Wray S, et al. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
Huntingtin Exists as Multiple Splice Forms in Human Brain.
Mort M, Carlisle FA, Waite AJ, Elliston L, Allen ND, Jones L, Hughes AC. Mort M, et al. Among authors: allen nd. J Huntingtons Dis. 2015;4(2):161-71. doi: 10.3233/JHD-150151. J Huntingtons Dis. 2015. PMID: 26397897
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
Baker E, Sims R, Leonenko G, Frizzati A, Harwood JC, Grozeva D; GERAD/PERADES; CHARGE; ADGC; EADI; IGAP consortia; Morgan K, Passmore P, Holmes C, Powell J, Brayne C, Gill M, Mead S, Bossù P, Spalletta G, Goate AM, Cruchaga C, Maier W, Heun R, Jessen F, Peters O, Dichgans M, FröLich L, Ramirez A, Jones L, Hardy J, Ivanov D, Hill M, Holmans P, Allen ND, Morgan BP, Seshadri S, Schellenberg GD, Amouyel P, Williams J, Escott-Price V. Baker E, et al. Among authors: allen nd. PLoS One. 2019 Jul 8;14(7):e0218111. doi: 10.1371/journal.pone.0218111. eCollection 2019. PLoS One. 2019. PMID: 31283791 Free PMC article.
109 results