Publications in collaboration with researchers from Instituto de Salud Carlos III (7)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease, Vol. 47, Núm. 5, pp. 1047-1068

2023

  1. Mountain spa rehabilitation improved health of patients with post-COVID-19 syndrome: pilot study

    Environmental Science and Pollution Research, Vol. 30, Núm. 6, pp. 14200-14211

2022

  1. Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

    Frontiers in Physiology, Vol. 13

  2. Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway

    FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561

2021

  1. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging

    BioFactors, Vol. 47, Núm. 4, pp. 551-569

2019

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

  2. PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 116, Núm. 1, pp. 277-286