ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. This disorder, considered to be rare, was first described in the late seventies among French Canadi...

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Hlavní autoři: Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2008
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2441586/
https://ncbi.nlm.nih.gov/pubmed/18465152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-008-0131-7
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