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SCA8 repeat expansion coexists with SCA1--not only with SCA6.
Sulek A, Hoffman-Zacharska D, Zdzienicka E, Zaremba J. Sulek A, et al. Among authors: zdzienicka e. Am J Hum Genet. 2003 Oct;73(4):972-4. doi: 10.1086/378524. Am J Hum Genet. 2003. PMID: 14508711 Free PMC article. No abstract available.
[Clinical and genetic study of juvenile form of Huntington's disease].
Zdzienicka E, Rakowicz M, Mierzewska H, Hoffman-Zacharska D, Jakubowska T, Poniatowska R, Sułek A, Waliniowska E, Zalewska U, Kulczycki J, Zaremba J. Zdzienicka E, et al. Neurol Neurochir Pol. 2002 Mar-Apr;36(2):245-58. Neurol Neurochir Pol. 2002. PMID: 12046502 Polish.
[Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation].
Rakowicz M, Zdzienicka E, Poniatowska R, Waliniowska E, Sułek A, Jakubowska T, Niedzielska K, Rola R, Wierzbicka A, Hoffman-Zacharska D, Głazowski C, Jakubczyk T, Niewiadomska M, Zaremba J. Rakowicz M, et al. Among authors: zdzienicka e. Neurol Neurochir Pol. 2005 Jul-Aug;39(4):263-275. Neurol Neurochir Pol. 2005. PMID: 16096942 Polish.
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. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
44 results