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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: rosenblatt a. 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
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.
Trinucleotide repeat expansion and neuropsychiatric disease.
Margolis RL, McInnis MG, Rosenblatt A, Ross CA. Margolis RL, et al. Among authors: rosenblatt a. Arch Gen Psychiatry. 1999 Nov;56(11):1019-31. doi: 10.1001/archpsyc.56.11.1019. Arch Gen Psychiatry. 1999. PMID: 10565502 Review.
405 results