Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is cla...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Habibzadeh, Parham, Tabatabaei, Zahra, Inaloo, Soroor, Nashatizadeh, Muhammad Mahdi, Synofzik, Matthis, Ostovan, Vahid Reza, Faghihi, Mohammad Ali
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784631/
https://ncbi.nlm.nih.gov/pubmed/33414805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.585136
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