Publicacións en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (8)

2021

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

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

2020

  1. Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer–Simons syndrome

    Journal of Dermatology, Vol. 47, Núm. 12, pp. 1439-1444

2019

  1. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    Neurogenetics

2018

  1. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy

    European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406

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

  2. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147

2013

  1. A new seipin-associated neurodegenerative syndrome

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