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Page 1
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djoussé L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH. Li JL, et al. Among authors: frati l. BMC Med Genet. 2006 Aug 17;7:71. doi: 10.1186/1471-2350-7-71. BMC Med Genet. 2006. PMID: 16914060 Free PMC article.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
DNA instability in replicating Huntington's disease lymphoblasts.
Cannella M, Maglione V, Martino T, Ragona G, Frati L, Li GM, Squitieri F. Cannella M, et al. Among authors: frati l. BMC Med Genet. 2009 Feb 11;10:11. doi: 10.1186/1471-2350-10-11. BMC Med Genet. 2009. PMID: 19210789 Free PMC article.
Distinct brain volume changes correlating with clinical stage, disease progression rate, mutation size, and age at onset prediction as early biomarkers of brain atrophy in Huntington's disease.
Squitieri F, Cannella M, Simonelli M, Sassone J, Martino T, Venditti E, Ciammola A, Colonnese C, Frati L, Ciarmiello A. Squitieri F, et al. Among authors: frati l. CNS Neurosci Ther. 2009 Winter;15(1):1-11. doi: 10.1111/j.1755-5949.2008.00068.x. CNS Neurosci Ther. 2009. PMID: 19228174 Free PMC article.
534 results