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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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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2008
Sujets:
Accès en ligne: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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