PABLO
IRUZUBIETA AGUDO
Hospital Universitario de Donostia
San Sebastián, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (14)
2024
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Movement Disorders, Vol. 39, Núm. 1, pp. 209-214
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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
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Reperfusion treatment in acute ischaemic stroke due to cervical and cerebral artery dissection: results of a Spanish national multicentre study
Neurologia, Vol. 38, Núm. 6, pp. 412-418
2022
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Frequency, Predictors, Etiology, and Outcomes for Deep Intracerebral Hemorrhage without Hypertension
Journal of Stroke and Cerebrovascular Diseases, Vol. 31, Núm. 3
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Impact on functional outcome of an adaptive Stroke Unit based system of care for patients undergoing endovascular treatment during pandemic times
European Stroke Journal, Vol. 7, Núm. 3, pp. 248-256
2021
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Autoimmune GFAP astrocytopathy presenting with remarkable CNS hyperexcitability and oculogyric crises
Journal of Neuroimmunology, Vol. 359
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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
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Management of an outbreak of botulism with benign clinical presentation
Journal of Clinical Neuroscience, Vol. 88, pp. 159-162
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Pituitary apoplexy causing thunderclap headache: Easy to miss
Practical Neurology
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