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Page 1
Understanding monogenic Parkinson's disease at a global scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle J, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson’s Genetics Program (GP2). Junker J, et al. Among authors: mencacci ne. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. Update in: Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. PMID: 38529492 Free PMC article. Updated. Preprint.
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.
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.
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.
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.
125 results