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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. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study.
Reilmann R, McGarry A, Grachev ID, Savola JM, Borowsky B, Eyal E, Gross N, Langbehn D, Schubert R, Wickenberg AT, Papapetropoulos S, Hayden M, Squitieri F, Kieburtz K, Landwehrmeyer GB; European Huntington's Disease Network; Huntington Study Group investigators. Reilmann R, et al. Lancet Neurol. 2019 Feb;18(2):165-176. doi: 10.1016/S1474-4422(18)30391-0. Epub 2018 Dec 15. Lancet Neurol. 2019. PMID: 30563778 Clinical Trial.
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.
Orth M; European Huntington's Disease Network; Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB. Orth M, et al. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. J Neurol Neurosurg Psychiatry. 2011. PMID: 21097549 No abstract available.
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.
65 results