Publicacions en col·laboració amb investigadors/es de Hospital Universitario Central de Asturias (4)

2023

  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

2021

  1. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

    Molecular Genetics and Metabolism Reports, Vol. 26

2019

  1. Late-onset thymidine kinase 2 deficiency: A review of 18 cases

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2017

  1. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420