PABLO
IRUZUBIETA AGUDO
McGill University
Montreal, CanadáPublicaciones en colaboración con investigadores/as de McGill University (5)
2024
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The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
Clinical Genetics, Vol. 105, Núm. 4, pp. 446-452
2023
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833
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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