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Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. OBJECTIVES: The aim of...

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Detalles Bibliográficos
Autores principales: Tremblay, Marjolaine, Girard-Côté, Laura, Brais, Bernard, Gagnon, Cynthia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526980/
https://www.ncbi.nlm.nih.gov/pubmed/36183078
http://dx.doi.org/10.1186/s13023-022-02497-1

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