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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: myers rh. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Weight loss in early stage of Huntington's disease.
Djoussé L, Knowlton B, Cupples LA, Marder K, Shoulson I, Myers RH. Djoussé L, et al. Among authors: myers rh. Neurology. 2002 Nov 12;59(9):1325-30. doi: 10.1212/01.wnl.0000031791.10922.cf. Neurology. 2002. PMID: 12427878
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: myers rh. 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
Reduced penetrance of the Huntington's disease mutation.
McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH. McNeil SM, et al. Among authors: myers rh. Hum Mol Genet. 1997 May;6(5):775-9. doi: 10.1093/hmg/6.5.775. Hum Mol Genet. 1997. PMID: 9158152
Huntington's disease.
Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel JP, Myers RH, MacDonald ME. Gusella JF, et al. Among authors: myers rh. Cold Spring Harb Symp Quant Biol. 1996;61:615-26. Cold Spring Harb Symp Quant Biol. 1996. PMID: 9246488 No abstract available.
283 results