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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...
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 |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2008
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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 |
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