Publicaciones en colaboración con investigadores/as de Hospital Miguel Servet (4)

2023

  1. Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679

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

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

2022

  1. The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis

    Epilepsy and Behavior, Vol. 132

2021

  1. Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis

    Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 210-221