Genetics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and role of sacsin in neurodegeneration
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease that was originally discovered in the population from the …
neurodegenerative disease that was originally discovered in the population from the …
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
M Tremblay, L Girard-Côté, B Brais… - Orphanet Journal of Rare …, 2022 - Springer
Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited
disorders characterized by degeneration or abnormal development of the cerebellum …
disorders characterized by degeneration or abnormal development of the cerebellum …
Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity
BK Pi, YH Chung, HS Kim, SH Nam, AJ Lee… - International Journal of …, 2024 - mdpi.com
Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of
Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie …
Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie …
[PDF][PDF] La perspective des personnes atteintes d'ataxie récessive dans l'évaluation des impacts de la maladie: développement d'un outil de mesure autorapporté
M Tremblay - 2023 - savoirs.usherbrooke.ca
Introduction. L'ataxie récessive spastique de Charlevoix-Saguenay (ARSCS) est une
maladie neurologique héréditaire se manifestant par des atteintes cérébelleuses …
maladie neurologique héréditaire se manifestant par des atteintes cérébelleuses …
Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.
M Tremblay, L Girard-Côté, B Brais, C Gagnon - 2022 - researchsquare.com
Background. Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited
disorders characterized by degeneration or abnormal development of cerebellum …
disorders characterized by degeneration or abnormal development of cerebellum …