Publicaciones en colaboración con investigadoras/es de Complexo Hospitalario Universitario de Santiago (10)

2023

  1. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

2022

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

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

  2. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

2021

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

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

2019

  1. Development and validation of a brief electronic screening test for cognitive impairment in multiple sclerosis (SCI-MS Test)

    Multiple Sclerosis and Related Disorders, Vol. 28, pp. 50-56

  2. 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

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  2. Quality of life in home-ventilated children and their families

    European Journal of Pediatrics, Vol. 176, Núm. 10, pp. 1307-1317

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

2012

  1. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507