Author:
Platonov Fedor A.,Tyryshkin Kathrin,Tikhonov Dmitriy G.,Neustroyeva Tatyana S.,Sivtseva Tatyana M.,Yakovleva Natalya V.,Nikolaev Valerian P.,Sidorova Oksana G.,Kononova Sardana K.,Goldfarb Lev G.,Renwick Neil M.
Funder
National Science Foundation
National Institute of Neurological Disorders and Stroke
Queens University, Canada
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Reference28 articles.
1. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221–226
2. Matilla T, Volpini V, Genis D, Rosell J, Corral J, Davalos A, et al. (1993) Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet 2:2123–2128
3. Jodice C, Malaspina P, Persichetri F, Novelletto A, Spadaro M, Giunti P, et al. (1994) Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am J Hum Genet 54:959–965
4. Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, et al. (1994) Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet 55:244–252
5. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291–304