Publicaciones en colaboración con investigadoras/es de Hospital de Cruces (15)

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

  2. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

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

2020

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

    Genes, Vol. 11, Núm. 5

2019

  1. Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies (Scientific Reports, (2018), 8, 1, (15457), 10.1038/s41598-018-33810-3)

    Scientific Reports

  2. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

  3. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

    Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136

2018

  1. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

    Scientific Reports, Vol. 8, Núm. 1

  2. Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study

    Scientific Reports, Vol. 8, Núm. 1

2015

  1. Neurogenetic Disorders in the Basque Population

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

2012

  1. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report

    Journal of Medical Case Reports, Vol. 6

2011

  1. HLA-DRB1 typing in caucasians patients with neuromyelitis optica

    Revista de Neurologia, Vol. 53, Núm. 3, pp. 146-152

2010

  1. Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

    Movement Disorders, Vol. 25, Núm. 14, pp. 2340-2345