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Page 1
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djoussé L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH. Li JL, et al. Among authors: abramson rk. BMC Med Genet. 2006 Aug 17;7:71. doi: 10.1186/1471-2350-7-71. BMC Med Genet. 2006. PMID: 16914060 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: abramson rk. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
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. 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
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, 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, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: abramson rk. Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387017 Free PMC article.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, 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, Landwehrmeyer GB; Registry Study of the European Huntington's Disease Network; Shoulson I; Huntington Study Group COHORT project; Myers RH, MacDonald ME, Gusella JF. Lee JH, et al. Among authors: abramson rk. Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. doi: 10.1016/j.bbrc.2012.06.120. Epub 2012 Jul 3. Biochem Biophys Res Commun. 2012. PMID: 22771793 Free PMC article.
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djoussé L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha JH, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH. Li JL, et al. Among authors: abramson rk. Am J Hum Genet. 2003 Sep;73(3):682-7. doi: 10.1086/378133. Epub 2003 Aug 1. Am J Hum Genet. 2003. PMID: 12900792 Free PMC article.
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo Cabrero D, Jones R, Zanko A, Nance M, Abramson RK, Suchowersky O, Paulsen JS, Harrison MB, Yang Q, Cupples LA, Mysore J, Gusella JF, MacDonald ME, Myers RH. Djoussé L, et al. Among authors: abramson rk. Neurogenetics. 2004 Jun;5(2):109-14. doi: 10.1007/s10048-004-0175-2. Epub 2004 Mar 17. Neurogenetics. 2004. PMID: 15029481 Free PMC article.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, 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, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Ramos EM, et al. Among authors: abramson rk. Neurogenetics. 2013 Nov;14(3-4):173-9. doi: 10.1007/s10048-013-0364-y. Epub 2013 May 4. Neurogenetics. 2013. PMID: 23644918 Free PMC article.
Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.
Martin ER, Menold MM, Wolpert CM, Bass MP, Donnelly SL, Ravan SA, Zimmerman A, Gilbert JR, Vance JM, Maddox LO, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA. Martin ER, et al. Among authors: abramson rk. Am J Med Genet. 2000 Feb 7;96(1):43-8. doi: 10.1002/(sici)1096-8628(20000207)96:1<43::aid-ajmg9>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10686550
81 results