Publicaciones en colaboración con investigadoras/es de Hospital Universitario Reina Sofia (8)

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. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

2022

  1. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

2021

  1. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis

    European Journal of Neurology, Vol. 28, Núm. 6, pp. 2083-2091

2020

  1. Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants

    Pediatric Allergy and Immunology, Vol. 31, Núm. 2, pp. 124-132

2019

  1. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

2016

  1. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

2015

  1. Risk factors for bronchiolitis, recurrent wheezing, and related hospitalization in preterm infants during the first year of life

    Pediatric Allergy and Immunology, Vol. 26, Núm. 8, pp. 797-804