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Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables

✍ Scribed by Francesco Le Pira; Giuseppe Zappalà; Riccardo Saponara; Elisabetta Domina; Domenico A Restivo; Ester Reggio; Alessandra Nicoletti; Salvatore Giuffrida

Book ID
119465662
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
90 KB
Volume
201
Category
Article
ISSN
0022-510X

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Clinical and genetic findings in Finnish
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion
✍ Vesa Juvonen; Marja Hietala; Markku Päivärinta; Maria Rantamäki; Lauri Hakamies; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 352 KB 👁 1 views

Spinocerebellar ataxia 8 (SCA8) is caused by a CTG repeat expansion in an untranslated region of a recently cloned gene on 13q21. The pathogenic role of this trinucleotide repeat was evaluated by examining 154 Finnish ataxia patients and 448 controls. Expansions ranging from 100 to 675 repeats were