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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: gusella jf. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Huntington's disease.
Gusella JF, MacDonald ME. Gusella JF, et al. Semin Cell Biol. 1995 Feb;6(1):21-8. doi: 10.1016/1043-4682(95)90011-x. Semin Cell Biol. 1995. PMID: 7620118 Review.
Molecular genetics of Huntington's disease.
Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Gusella JF, et al. Arch Neurol. 1993 Nov;50(11):1157-63. doi: 10.1001/archneur.1993.00540110037003. Arch Neurol. 1993. PMID: 8215974 Review.
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH. Djoussé L, et al. Among authors: gusella jf. Am J Med Genet A. 2003 Jun 15;119A(3):279-82. doi: 10.1002/ajmg.a.20190. Am J Med Genet A. 2003. PMID: 12784292
536 results