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A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Online Contents | 2021|Keywords: Autosomal recessive spastic ataxia of Charlevoix-Saguenay -
Functional transcriptome analysis in ARSACS KO cell model reveals a role of sacsin in autophagy
Free accessBASE | 2019|Keywords: Autosomal recessive spastic ataxia of charlevoix-Saguenay (ARSAcS) -
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Wiley | 2021|Keywords: autosomal recessive spastic ataxia of Charlevoix‐Saguenay -
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series
Wiley | 2013|Keywords: autosomal recessive spastic ataxia of Charlevoix‐Saguenay -
Middle Cerebellar Peduncles and Pontine T2 Hypointensities in ARSACS
Wiley | 2013|Keywords: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) -
Autosomal recessive spastic ataxia of Charlevoix‐Saguenay
Wiley | 2006|Keywords: autosomal recessive spastic ataxia of Charlevoix‐Saguenay -
Current and Promising Therapies in Autosomal Recessive Ataxias
Bentham Science Publishers | 2018|Keywords: autosomal recessive spastic ataxia of charlevoix-saguenay.
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