Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biogipuzkoa (9)

2024

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

    Acta Neuropathologica, Vol. 148, Núm. 1

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

    Movement Disorders

2020

  1. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

  2. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain

    Genes, Vol. 11, Núm. 5

2018

  1. Clinical evidences supporting the Src/c-Abl pathway as potential therapeutic target in amyotrophic lateral sclerosis

    Journal of the Neurological Sciences

2016

  1. ALS: A bucket of genes, environment, metabolism and unknown ingredients

    Progress in Neurobiology, Vol. 142, pp. 104-129

  2. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

    Neurology, Vol. 87, Núm. 12, pp. 1250-1257

  3. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

    Neuromuscular Disorders, Vol. 26, Núm. 1, pp. 33-40

2011

  1. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714