Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria Biodonostia (5)

2023

  1. Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

    Neurology: Genetics, Vol. 9, Núm. 5

  2. 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

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

    Scientific Reports, Vol. 13, Núm. 1

2021

  1. Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes

    Journal of Stroke and Cerebrovascular Diseases, Vol. 30, Núm. 12

2020

  1. COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage

    Journal of Stroke and Cerebrovascular Diseases, Vol. 29, Núm. 4