Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)

2017

  1. Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease

    Molecular Psychiatry, Vol. 22, Núm. 5, pp. 711-723

2014

  1. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1143-1150

2010

  1. Regulated segregation of kinase Dyrk1A during asymmetric neural stem cell division is critical for EGFR-mediated biased signaling

    Cell Stem Cell, Vol. 7, Núm. 3, pp. 367-379

2008

  1. Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

    Journal of Cellular and Molecular Medicine, Vol. 12, Núm. 2, pp. 679-689