Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review
Author:
Publisher
Frontiers Media SA
Subject
General Neuroscience
Reference135 articles.
1. Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene.;Abe;Arch. Ophthalmol.,1997
2. Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation.;Abe;Graefes Arch. Clin. Exp. Ophthalmol.,2001
3. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.;Abou-Sleymane;Hum. Mol. Genet.,2006
4. Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7.;Ahn;Am. J. Ophthalmol.,2005
5. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.;Aleman;Exp. Eye Res.,2002
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