Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (6)

2024

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

    Gut

2022

  1. Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors

    Molecular Therapy - Methods and Clinical Development, Vol. 27, pp. 96-108

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

2018

  1. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria

    Nature Medicine, Vol. 24, Núm. 12, pp. 1899-1909

2013

  1. Clinical phenotypes within non-surgical patients with mesial temporal lobe epilepsy caused by hippocampal sclerosis based on response to antiepileptic drugs

    Seizure, Vol. 22, Núm. 1, pp. 20-23

  2. Obstructive sleep apnea severity is associated with left ventricular mass independent of other cardiovascular risk factors in morbid obesity

    Journal of Clinical Sleep Medicine, Vol. 9, Núm. 11, pp. 1165-1171