Publicacións en colaboración con investigadores/as de Children's Hospital of Philadelphia (2)

2023

  1. Viral vector–mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome

    Journal of Clinical Investigation, Vol. 133, Núm. 12

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674