Publications in collaboration with researchers from Instituto de Salud Carlos III (6)

2024

  1. Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses

    Frontiers in Cellular Neuroscience, Vol. 18

  2. New variants expand the neurological phenotype of COQ7 deficiency

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

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

2017

  1. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703

2014

  1. Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC Pediatrics, Vol. 14, Núm. 1