Publicaciones en colaboración con investigadores/as de Universidade Do Porto (3)

2020

  1. Assessing lysosomal disorders in the NGS era: Identification of novel rare variants

    International Journal of Molecular Sciences, Vol. 21, Núm. 17, pp. 1-18

  2. Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicity

    Diagnostics, Vol. 10, Núm. 2

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435