Publications by the researcher in collaboration with Pablo Iruzubieta Agudo (9)

2024

  1. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

    Aging Cell

  2. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

    Brain, Vol. 147, Núm. 8, pp. 2867-2883

  3. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

  4. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

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

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

2023

  1. 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

2021

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

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

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

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

2020

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

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