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 …
Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
A Cakar, A Candayan, G Bagırova… - European Journal of …, 2025 - Wiley Online Library
Abstract Background Charcot–Marie‐Tooth (CMT) disease is the most common inherited
neuropathy. In this study, we aimed to analyze the genetic spectrum and describe …
neuropathy. In this study, we aimed to analyze the genetic spectrum and describe …
[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 …
First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the Middle east
AS Safan, K Zammar, MA Atta, K Obaid, D Deleu - 2024 - researchsquare.com
First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the Middle east
Page 1 Page 1/11 First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay …
Page 1 Page 1/11 First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay …
A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene
H Onder, V Topcu, S Comoglu - Annals of Movement Disorders, 2023 - journals.lww.com
Discussion ARSACS is an early-onset, progressive, and hereditary disorder caused by
biallelic mutations in the sacsin molecular chaperone gene, known as the SACS gene.[2] …
biallelic mutations in the sacsin molecular chaperone gene, known as the SACS gene.[2] …
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 …