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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: sheerin um. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
Study of the genetic variability in a Parkinson's Disease gene: EIF4G1.
Tucci A, Charlesworth G, Sheerin UM, Plagnol V, Wood NW, Hardy J. Tucci A, et al. Among authors: sheerin um. Neurosci Lett. 2012 Jun 14;518(1):19-22. doi: 10.1016/j.neulet.2012.04.033. Epub 2012 Apr 23. Neurosci Lett. 2012. PMID: 22561553 Free PMC article.
Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.
Tsika E, Glauser L, Moser R, Fiser A, Daniel G, Sheerin UM, Lees A, Troncoso JC, Lewis PA, Bandopadhyay R, Schneider BL, Moore DJ. Tsika E, et al. Among authors: sheerin um. Hum Mol Genet. 2014 Sep 1;23(17):4621-38. doi: 10.1093/hmg/ddu178. Epub 2014 Apr 15. Hum Mol Genet. 2014. PMID: 24740878 Free PMC article.
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, Dean A, Bajaj N, McNicholas N, Costello D, Cronin S, McGuigan C, Rossor M, Fox N, Murphy E, Chataway J, Houlden H. Lynch DS, et al. Among authors: sheerin um. J Neurol Neurosurg Psychiatry. 2016 May;87(5):512-9. doi: 10.1136/jnnp-2015-310788. Epub 2015 May 2. J Neurol Neurosurg Psychiatry. 2016. PMID: 25935893 Free PMC article.
Tau acts as an independent genetic risk factor in pathologically proven PD.
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Charlesworth G, et al. Among authors: sheerin um. Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4. Neurobiol Aging. 2012. PMID: 22221882 Free PMC article.
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW. Charlesworth G, et al. Among authors: sheerin um. Am J Hum Genet. 2012 Dec 7;91(6):1041-50. doi: 10.1016/j.ajhg.2012.10.024. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200863 Free PMC article.
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP. Stamelou M, et al. Among authors: sheerin um. Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17. Mov Disord. 2014. PMID: 24442708 Free PMC article.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
43 results