Publications (21) Publications de PABLO IRUZUBIETA AGUDO

2024

  1. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

    Movement Disorders, Vol. 39, Núm. 1, pp. 209-214

  2. 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

  1. Cenobamate in patients with highly refractory focal epilepsy: A retrospective real-world study

    Seizure, Vol. 111, pp. 71-77

  2. 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

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

    Neurology: Genetics, Vol. 9, Núm. 5

  4. 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

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

    Scientific Reports, Vol. 13, Núm. 1

  6. 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

  7. Spheresomes are the main extracellular vesicles in low-grade gliomas

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. Frequency, Predictors, Etiology, and Outcomes for Deep Intracerebral Hemorrhage without Hypertension

    Journal of Stroke and Cerebrovascular Diseases, Vol. 31, Núm. 3

  2. 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

  3. Stromal cells of giant cell tumor of bone show primary cilia in giant cell tumor of bone

    Microscopy Research and Technique, Vol. 85, Núm. 3, pp. 1065-1074

  4. Supporting Evidence of Human Enteric Nervous System Adult Neurogenesis: Presence of Primary Cilia and Adult Neurogenesis Markers

    Cellular and Molecular Neurobiology, Vol. 42, Núm. 2, pp. 473-481

2021

  1. Autoimmune GFAP astrocytopathy presenting with remarkable CNS hyperexcitability and oculogyric crises

    Journal of Neuroimmunology, Vol. 359

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

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

  3. Management of an outbreak of botulism with benign clinical presentation

    Journal of Clinical Neuroscience, Vol. 88, pp. 159-162

  4. Pituitary apoplexy causing thunderclap headache: Easy to miss

    Practical Neurology

  5. Primary cilia presence and implications in bladder cancer progression and invasiveness

    Histochemistry and Cell Biology, Vol. 155, Núm. 5, pp. 547-560

2020

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

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

  2. Hedgehog signalling pathway activation in gastrointestinal stromal tumours is mediated by primary cilia

    Gastric Cancer, Vol. 23, Núm. 1, pp. 64-72