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Page 1
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, Houlden H, Hardy J, Bhatia KP. Stamelou M, et al. Among authors: mencacci ne. Neurology. 2012 Jul 31;79(5):435-41. doi: 10.1212/WNL.0b013e318261714a. Epub 2012 Jul 18. Neurology. 2012. PMID: 22815559 Free PMC article.
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T. Duran R, et al. Among authors: mencacci ne. Mov Disord. 2013 Feb;28(2):232-236. doi: 10.1002/mds.25248. Epub 2012 Dec 5. Mov Disord. 2013. PMID: 23225227 Free PMC article.
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Hersheson J, et al. Among authors: mencacci ne. Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19. Ann Neurol. 2013. PMID: 23424103 Free PMC article.
Parkin disease: a clinicopathologic entity?
Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL. Doherty KM, et al. Among authors: mencacci ne. JAMA Neurol. 2013 May;70(5):571-9. doi: 10.1001/jamaneurol.2013.172. JAMA Neurol. 2013. PMID: 23459986 Free PMC article.
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Angeli A, Mencacci NE, Duran R, Aviles-Olmos I, Kefalopoulou Z, Candelario J, Rusbridge S, Foley J, Pradhan P, Jahanshahi M, Zrinzo L, Hariz M, Wood NW, Hardy J, Limousin P, Foltynie T. Angeli A, et al. Among authors: mencacci ne. Mov Disord. 2013 Sep;28(10):1370-5. doi: 10.1002/mds.25535. Epub 2013 Jul 1. Mov Disord. 2013. PMID: 23818421 Free PMC article.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Screening of mutations in NOL3 in a myoclonic syndromes series.
Macerollo A, Mencacci NE, Erro R, Cordivari C, Edwards MJ, Wood NW, Bhatia KP. Macerollo A, et al. Among authors: mencacci ne. J Neurol. 2014 Sep;261(9):1830-1. doi: 10.1007/s00415-014-7463-z. Epub 2014 Aug 20. J Neurol. 2014. PMID: 25138476 Free PMC article. No abstract available.
117 results