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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. Among authors: mahoney cj. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.
Sposito T, Preza E, Mahoney CJ, Setó-Salvia N, Ryan NS, Morris HR, Arber C, Devine MJ, Houlden H, Warner TT, Bushell TJ, Zagnoni M, Kunath T, Livesey FJ, Fox NC, Rossor MN, Hardy J, Wray S. Sposito T, et al. Among authors: mahoney cj. Hum Mol Genet. 2015 Sep 15;24(18):5260-9. doi: 10.1093/hmg/ddv246. Epub 2015 Jul 1. Hum Mol Genet. 2015. PMID: 26136155 Free PMC article.
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.
Bartolome F, Wu HC, Burchell VS, Preza E, Wray S, Mahoney CJ, Fox NC, Calvo A, Canosa A, Moglia C, Mandrioli J, Chiò A, Orrell RW, Houlden H, Hardy J, Abramov AY, Plun-Favreau H. Bartolome F, et al. Among authors: mahoney cj. Neuron. 2013 Apr 10;78(1):57-64. doi: 10.1016/j.neuron.2013.02.028. Epub 2013 Mar 14. Neuron. 2013. PMID: 23498975 Free PMC article.
A cognitive chameleon: lessons from a novel MAPT mutation case.
Liang Y, Gordon E, Rohrer J, Downey L, de Silva R, Jäger HR, Nicholas J, Modat M, Cardoso MJ, Mahoney C, Warren J, Rossor M, Fox N, Caine D. Liang Y, et al. Neurocase. 2014;20(6):684-94. doi: 10.1080/13554794.2013.826697. Epub 2013 Sep 2. Neurocase. 2014. PMID: 23998300 Free PMC article.
White matter tract signatures of the progressive aphasias.
Mahoney CJ, Malone IB, Ridgway GR, Buckley AH, Downey LE, Golden HL, Ryan NS, Ourselin S, Schott JM, Rossor MN, Fox NC, Warren JD. Mahoney CJ, et al. Neurobiol Aging. 2013 Jun;34(6):1687-99. doi: 10.1016/j.neurobiolaging.2012.12.002. Epub 2013 Jan 9. Neurobiol Aging. 2013. PMID: 23312804 Free PMC article.
65 results