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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare progressive neurodegenerative disease caused by either homozygous or compound heterozygous mutations in the SACS gene. The original ARSACS cases found in Quebec showed very homogenous phenotypes characterized by cerebellar...

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Detalles Bibliográficos
Autores principales:	Aida, Izumi, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Ohta, Kentaro, Nakajima, Takashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758457/ https://www.ncbi.nlm.nih.gov/pubmed/34121011 http://dx.doi.org/10.2169/internalmedicine.7401-21

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