Publicacións en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (4)

2017

  1. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

2012

  1. Erratum to: Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, et al. Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease (Autophagy (2012) 8, (701-703))

    Autophagy

  2. Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

    Human Molecular Genetics, Vol. 21, Núm. 7, pp. 1521-1533

  3. Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

    Autophagy