Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (6)

2022

  1. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

    Annals of Neurology, Vol. 92, Núm. 5, pp. 793-806

2021

  1. Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

    Molecular Therapy - Nucleic Acids, Vol. 26, pp. 174-191

2017

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

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model

    DMM Disease Models and Mechanisms, Vol. 8, Núm. 7, pp. 679-690

2013

  1. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

    Human Molecular Genetics, Vol. 22, Núm. 4, pp. 704-716

  2. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

    Brain, Vol. 136, Núm. 5, pp. 1508-1517