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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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441586/
https://www.ncbi.nlm.nih.gov/pubmed/18465152
http://dx.doi.org/10.1007/s10048-008-0131-7