Publicaciones en colaboración con investigadores/as de Universidad Francisco de Vitoria (4)

2021

  1. Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

    Neurology: Genetics, Vol. 7, Núm. 5

  2. Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

    Human Genomics, Vol. 15, Núm. 1

2020

  1. Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome

    International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11

  2. VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 5, pp. 808-818