SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2

Published:2005-10-26 Issue:1 Volume:129 Page:235-242
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Cagnoli Claudia,Mariotti Caterina,Taroni Franco,Seri Marco,Brussino Alessandro,Michielotto Chiara,Grisoli Marina,Di Bella Daniela,Migone Nicola,Gellera Cinzia,Di Donato Stefano,Brusco Alfredo

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/129/1/235/885582/awh651.pdf

Reference17 articles.

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2. Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, et al. Autosomal dominant cerebellar ataxia type 1: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol1999; 246: 789–97.

3. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. Brain1982; 105: 1–28.

4. Hide W, Smedley D, McCarthy M, Kelso J. Application of eVOC: controlled vocabularies for unifying gene expression data. C R Biol2003; 326: 1089–96.

5. Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains. Am J Hum Genet2005; 77: 280–96.

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