Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (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

  2. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

2020

  1. Clinical spectrum of BICD2 mutations

    European Journal of Neurology, Vol. 27, Núm. 7, pp. 1327-1335

2016

  1. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

    Neurogenetics, Vol. 17, Núm. 4, pp. 259-263