Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (194)

2017

  1. Muscle fiber type proportion and size is not altered in mcardle disease

    Muscle and Nerve, Vol. 55, Núm. 6, pp. 916-918

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

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

  3. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

    Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53