PABLO
IRUZUBIETA AGUDO
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Instituto de Investigación Sanitaria Biodonostia
San Sebastián, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biodonostia (5)
2023
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Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
Neurology: Genetics, Vol. 9, Núm. 5
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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
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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Scientific Reports, Vol. 13, Núm. 1
2021
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Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes
Journal of Stroke and Cerebrovascular Diseases, Vol. 30, Núm. 12
2020
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COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage
Journal of Stroke and Cerebrovascular Diseases, Vol. 29, Núm. 4