Publicaciones en colaboración con investigadores/as de University of Lorraine (2)

2023

  1. Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

    Movement Disorders

  2. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

    Scientific Reports, Vol. 13, Núm. 1