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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: frontali m. 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.
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.
Kwiatkowski TJ Jr, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, LeBorgne-DeMarquoy F, Duvick LA, Frontali M, et al. Kwiatkowski TJ Jr, et al. Among authors: frontali m. Am J Hum Genet. 1993 Aug;53(2):391-400. Am J Hum Genet. 1993. PMID: 8101039 Free PMC article.
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR, et al. Rubinsztein DC, et al. Among authors: frontali m. Am J Hum Genet. 1996 Jul;59(1):16-22. Am J Hum Genet. 1996. PMID: 8659522 Free PMC article.
110 results