Spinocerebellar Ataxias Caused by Polyglutamine Expansions
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Publisher
Springer US
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http://link.springer.com/content/pdf/10.1007/978-1-4615-0117-6_3.pdf
Reference203 articles.
1. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993; 61:1–14.
2. Froment J, Bonnet P, Colrat A. Heredo-degenerations retinienne et spino-cerebelleuses: Variantes ophtalmoscopiques et neurologiques presentees par trois generations successives. J Med Lyon 1937; 22:153–163.
3. Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 2000; 8:4–18.
4. Duff A, Brice A. Clinical and genetic aspects of spinocerebellar degeneration. Curr Opin Neurol 2000; 13:407–413.
5. Orr HT, Chung MY, Banfi S et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993; 4:221–226.
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