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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.
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Indelicato E, Boesch S, Mencacci NE, Ghezzi D, Prokisch H, Winkelmann J, Zech M. Indelicato E, et al. Among authors: mencacci ne. Mov Disord. 2024 Jan;39(1):29-35. doi: 10.1002/mds.29657. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964479 Free article. No abstract available.
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.
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.
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.
McNeill A, Wu RM, Tzen KY, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S, Bressan R, Cossu G, Cortelli P, Felicio A, Ferraz HB, Herrera J, Houlden H, Hoexter M, Isla C, Lees A, Lorenzo-Betancor O, Mencacci NE, Pastor P, Pappata S, Pellecchia MT, Silveria-Moriyama L, Varrone A, Foltynie T, Schapira AH. McNeill A, et al. Among authors: mencacci ne. PLoS One. 2013 Jul 23;8(7):e69190. doi: 10.1371/journal.pone.0069190. Print 2013. PLoS One. 2013. PMID: 23935950 Free PMC article.
117 results