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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process. We aimed to determine FRDA-positive subjects am...

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Detalles Bibliográficos
Autores principales: Brown, Alexander F., Parkinson, Michael H., Garcia-Moreno, Hector, Mudanohwo, Ese, Labrum, Robyn, Sweeney, Mary, Giunti, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697107/
https://www.ncbi.nlm.nih.gov/pubmed/34956042
http://dx.doi.org/10.3389/fneur.2021.736253