Publicacións en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (4)

2021

  1. Celia’s encephalopathy (Bscl2-gene-related): Current understanding

    Journal of Clinical Medicine, Vol. 10, Núm. 7

2016

  1. Skipped BSCL2 transcript in celia's encephalopathy (PELD): New insights on fatty acids involvement, senescence and adipogenesis

    PLoS ONE, Vol. 11, Núm. 7

2015

  1. Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

    Neurobiology of Disease, Vol. 83, pp. 44-53

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409