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146 results

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Page 1
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: hersch sm. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
Huntington Study Group PHAROS Investigators; Biglan KM, Shoulson I, Kieburtz K, Oakes D, Kayson E, Shinaman MA, Zhao H, Romer M, Young A, Hersch S, Penney J, Marder K, Paulsen J, Quaid K, Siemers E, Tanner C, Mallonee W, Suter G, Dubinsky R, Gray C, Nance M, Bundlie S, Radtke D, Kostyk S, Baic C, Caress J, Walker F, Hunt V, O'Neill C, Chouinard S, Factor S, Greenamyre T, Wood-Siverio C, Corey-Bloom J, Song D, Peavy G, Moskowitz C, Wesson M, Samii A, Bird T, Lipe H, Blindauer K, Marshall F, Zimmerman C, Goldstein J, Rosas D, Novak P, Caviness J, Adler C, Duffy A, Wheelock V, Tempkin T, Richman D, Seeberger L, Albin R, Chou KL, Racette B, Perlmutter JS, Perlman S, Bordelon Y, Martin W, Wieler M, Leavitt B, Raymond L, Decolongon J, Clarke L, Jankovic J, Hunter C, Hauser RA, Sanchez-Ramos J, Furtado S, Suchowersky O, Klimek ML, Guttman M, Sethna R, Feigin A, Cox M, Shannon B, Percy A, Dure L, Harrison M, Johnson W, Higgins D, Molho E, Nickerson C, Evans S, Hobson D, Singer C, Galvez-Jimenez N, Shannon K, Comella C, Ross C, Saint-Hilaire MH, Testa C, Rosenblatt A, Hogarth P, Weiner W, Como P, Kumar R, Cotto C, Stout J, Brocht A, Watts A, Eberly S, Weaver C, Foroud T, Gusella J, MacDona… See abstract for full author list ➔ Huntington Study Group PHAROS Investigators, et al. JAMA Neurol. 2016 Jan;73(1):102-10. doi: 10.1001/jamaneurol.2015.2736. JAMA Neurol. 2016. PMID: 26569098
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: hersch sm. 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: hersch sm. 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.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, 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, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Ramos EM, et al. Among authors: hersch sm. Hum Genet. 2012 Dec;131(12):1833-40. doi: 10.1007/s00439-012-1205-z. Epub 2012 Jul 25. Hum Genet. 2012. PMID: 22825315 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: hersch sm. 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.
HTRF analysis of soluble huntingtin in PHAROS PBMCs.
Moscovitch-Lopatin M, Goodman RE, Eberly S, Ritch JJ, Rosas HD, Matson S, Matson W, Oakes D, Young AB, Shoulson I, Hersch SM; Huntington Study Group PHAROS Investigators. Moscovitch-Lopatin M, et al. Among authors: hersch sm. Neurology. 2013 Sep 24;81(13):1134-40. doi: 10.1212/WNL.0b013e3182a55ede. Epub 2013 Aug 21. Neurology. 2013. PMID: 23966247 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: hersch sm. 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.
146 results