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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: nance m. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Predictors of nursing home placement in Huntington disease.
Wheelock VL, Tempkin T, Marder K, Nance M, Myers RH, Zhao H, Kayson E, Orme C, Shoulson I; Huntington Study Group. Wheelock VL, et al. Among authors: nance m. Neurology. 2003 Mar 25;60(6):998-1001. doi: 10.1212/01.wnl.0000052992.58107.67. Neurology. 2003. PMID: 12654967
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: nance m. 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
Detection of Huntington's disease decades before diagnosis: the Predict-HD study.
Paulsen JS, Langbehn DR, Stout JC, Aylward E, Ross CA, Nance M, Guttman M, Johnson S, MacDonald M, Beglinger LJ, Duff K, Kayson E, Biglan K, Shoulson I, Oakes D, Hayden M; Predict-HD Investigators and Coordinators of the Huntington Study Group. Paulsen JS, et al. Among authors: nance m. J Neurol Neurosurg Psychiatry. 2008 Aug;79(8):874-80. doi: 10.1136/jnnp.2007.128728. Epub 2007 Dec 20. J Neurol Neurosurg Psychiatry. 2008. PMID: 18096682 Free PMC article.
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Tobin JE, et al. Among authors: nance m. Neurology. 2008 Jul 1;71(1):28-34. doi: 10.1212/01.wnl.0000304051.01650.23. Epub 2008 May 28. Neurology. 2008. PMID: 18509094 Free PMC article.
Challenges assessing clinical endpoints in early Huntington disease.
Paulsen JS, Wang C, Duff K, Barker R, Nance M, Beglinger L, Moser D, Williams JK, Simpson S, Langbehn D, van Kammen DP; PREDICT-HD Investigators of the Huntington Study Group. Paulsen JS, et al. Among authors: nance m. Mov Disord. 2010 Nov 15;25(15):2595-603. doi: 10.1002/mds.23337. Mov Disord. 2010. PMID: 20623772 Free PMC article.
Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment.
Nopoulos PC, Aylward EH, Ross CA, Mills JA, Langbehn DR, Johnson HJ, Magnotta VA, Pierson RK, Beglinger LJ, Nance MA, Barker RA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Nopoulos PC, et al. Brain. 2011 Jan;134(Pt 1):137-42. doi: 10.1093/brain/awq280. Epub 2010 Oct 4. Brain. 2011. PMID: 20923788 Free PMC article.
474 results