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

2024

  1. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

    Brain, Vol. 147, Núm. 5, pp. 1653-1666

  2. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

    Gut

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