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Page 1
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: preza e. 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.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Among authors: preza e. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 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: preza e. 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.
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: preza e. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H. Liu YT, et al. Among authors: preza e. J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8. doi: 10.1136/jnnp-2013-306483. Epub 2013 Nov 11. J Neurol Neurosurg Psychiatry. 2014. PMID: 24218524 Free PMC article.
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Simone R, Javad F, Emmett W, Wilkins OG, Almeida FL, Barahona-Torres N, Zareba-Paslawska J, Ehteramyan M, Zuccotti P, Modelska A, Siva K, Virdi GS, Mitchell JS, Harley J, Kay VA, Hondhamuni G, Trabzuni D, Ryten M, Wray S, Preza E, Kia DA, Pittman A, Ferrari R, Manzoni C, Lees A, Hardy JA, Denti MA, Quattrone A, Patani R, Svenningsson P, Warner TT, Plagnol V, Ule J, de Silva R. Simone R, et al. Among authors: preza e. Nature. 2021 Jun;594(7861):117-123. doi: 10.1038/s41586-021-03556-6. Epub 2021 May 19. Nature. 2021. PMID: 34012113 Free PMC article.
27 results