Publicaciones en colaboración con investigadoras/es de Hospital Miguel Servet (5)

2023

  1. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

2022

  1. Langerhans cell histiocytosis. Advances in pathogenesis and clinical practice

    Anales de Pediatria, Vol. 97, Núm. 2, pp. 130.e1-130.e7

2016

  1. An assessment of the management of spasticity in Spain: The 5E study

    Revista de Neurologia, Vol. 63, Núm. 7, pp. 289-296

  2. The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121

2015

  1. Functional characterization and classification of frequent low-density lipoprotein receptor variants

    Human Mutation, Vol. 36, Núm. 1, pp. 129-141