Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (2)

2022

  1. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

2012

  1. Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

    Molecular Genetics and Metabolism, Vol. 107, Núm. 3, pp. 409-415