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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. Among authors: warby sc. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
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: warby sc. BMC Med Genet. 2006 Aug 17;7:71. doi: 10.1186/1471-2350-7-71. BMC Med Genet. 2006. PMID: 16914060 Free PMC article.
Selective degeneration in YAC mouse models of Huntington disease.
Van Raamsdonk JM, Warby SC, Hayden MR. Van Raamsdonk JM, et al. Among authors: warby sc. Brain Res Bull. 2007 Apr 30;72(2-3):124-31. doi: 10.1016/j.brainresbull.2006.10.018. Epub 2006 Nov 16. Brain Res Bull. 2007. PMID: 17352936 Review.
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.
Bečanović K, Nørremølle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA; REGISTRY Investigators of the European Huntington's Disease Network; Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR. Bečanović K, et al. Among authors: warby sc. Nat Neurosci. 2015 Jun;18(6):807-16. doi: 10.1038/nn.4014. Epub 2015 May 4. Nat Neurosci. 2015. PMID: 25938884
Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.
Wellington CL, Ellerby LM, Gutekunst CA, Rogers D, Warby S, Graham RK, Loubser O, van Raamsdonk J, Singaraja R, Yang YZ, Gafni J, Bredesen D, Hersch SM, Leavitt BR, Roy S, Nicholson DW, Hayden MR. Wellington CL, et al. J Neurosci. 2002 Sep 15;22(18):7862-72. doi: 10.1523/JNEUROSCI.22-18-07862.2002. J Neurosci. 2002. PMID: 12223539 Free PMC article.
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