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

2023

  1. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 1, pp. 66-75

2022

  1. Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 7, pp. 915-923

  2. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

  3. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55