Publications in collaboration with researchers from Hospital Universitario de Cruces (16)

2024

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

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

  2. Understanding the olfactory role in post-COVID cognitive and neuropsychiatric manifestations

    Frontiers in Psychology, Vol. 15

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