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Page 1
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
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
Factors associated with HD CAG repeat instability in Huntington disease.
Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Myers RH, Gusella JF, Wexler NS; US-Venezuela Collaborative Research Group. Wheeler VC, et al. Among authors: myers rh. J Med Genet. 2007 Nov;44(11):695-701. doi: 10.1136/jmg.2007.050930. Epub 2007 Jul 27. J Med Genet. 2007. PMID: 17660463 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. 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.
285 results