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Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

✍ Scribed by Stevanin, Giovanni; Dürr, Alexandra; Brice, Alexis


Book ID
110024901
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
407 KB
Volume
8
Category
Article
ISSN
1018-4813

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✍ Nathalie Kubis; Alexandra Dürr; Michel Gugenheim; Hervé Chneiweiss; Pilar Mazzet 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB

Autosomal dominant cerebellar ataxias (ADCAs) are clinically and genetically heterogeneous neurodegenerative disorders. The aim of this study was to evaluate electrophysiologically peripheral nervous system involvement in each of the groups studied and its correlation with the number of CAG repeats.