Publicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria Biocruces Bizkaia (13)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2023

  1. Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome

    Journal of Translational Medicine, Vol. 21, Núm. 1

2022

  1. Brain fog of post-COVID-19 condition and Chronic Fatigue Syndrome, same medical disorder?

    Journal of Translational Medicine, Vol. 20, Núm. 1

  2. Dysautonomia in COVID-19 Patients: A Narrative Review on Clinical Course, Diagnostic and Therapeutic Strategies

    Frontiers in Neurology, Vol. 13

  3. White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study

    Scientific reports, Vol. 12, Núm. 1, pp. 3988

2021

  1. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 7, pp. 1092-1108

  2. Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 6, pp. 711-723

2020

  1. Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1802-1815

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

    Genes, Vol. 11, Núm. 5

  3. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

2019

  1. COST Actions: fostering collaborative research for rare diseases

    The Lancet Neurology

  2. Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1

    NeuroImage: Clinical, Vol. 24

2015

  1. Neurogenetic Disorders in the Basque Population

    Annals of Human Genetics, Vol. 79, Núm. 1, pp. 57-75