Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (5)

2021

  1. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 3001-3011

2017

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

    Scientific Reports, Vol. 7, Núm. 1

  2. Molecular characterization of congenital myasthenic syndromes in Spain

    Neuromuscular Disorders, Vol. 27, Núm. 12, pp. 1087-1098

2016

  1. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

    Neuromuscular Disorders, Vol. 26, Núm. 2, pp. 153-159

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