Key Clinical Message Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.Peer reviewe
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (OMIM #270550) was originally fou...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative...
International audienceOBJECTIVE:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) i...
Key Clinical Message Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder ou...
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SAC...
Background : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurode...
We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning dif...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial diseas...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS; MIM 270550) is characterized...
We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessi...
We report a novel mutation (1373C-T) in the SACS gene in a italian patient. Research has to continue...
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes Autoso...
Background: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (OMIM #270550) was originally fou...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative...
International audienceOBJECTIVE:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) i...
Key Clinical Message Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder ou...
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SAC...
Background : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurode...
We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning dif...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial diseas...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS; MIM 270550) is characterized...
We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessi...
We report a novel mutation (1373C-T) in the SACS gene in a italian patient. Research has to continue...
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes Autoso...
Background: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (OMIM #270550) was originally fou...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative...
International audienceOBJECTIVE:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) i...