Pablo Iruzubieta
Montreal Neurological Institute and Hospital(CA)Universidad de Deusto(ES)Instituto de Salud Carlos III(ES)Biomedical Research Networking Center on Neurodegenerative Diseases(ES)Marqués de Valdecilla University Hospital(ES)Biogipuzkoa Health Research Institute(ES)Instituto de Investigación Marqués de Valdecilla(ES)Centro de Investigación Biomédica en Red(ES)Policlínica Gipuzkoa(ES)Dr. John T. Macdonald Foundation(US)Onkologikoa(ES)National Hospital for Neurology and Neurosurgery(GB)University College London(GB)McGill University(CA)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, Hereditary Neurological Disorders, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B(2023)71 cited
- → Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia(2023)35 cited
- → Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia(2023)34 cited
- → Cenobamate in patients with highly refractory focal epilepsy: A retrospective real-world study(2023)32 cited
- → Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease(2024)26 cited
- → The FGF14 GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations(2024)25 cited