Publicacions en què col·labora amb Carlos Santos Ocaña (7)
2024
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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2021
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Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging
BioFactors, Vol. 47, Núm. 4, pp. 551-569
2020
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Design of High-Throughput Screening of Natural Extracts to Identify Molecules Bypassing Primary Coenzyme Q Deficiency in Saccharomyces cerevisiae
SLAS Discovery, Vol. 25, Núm. 3, pp. 299-309
2019
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ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
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Inadequate control of thyroid hormones sensitizes to hepatocarcinogenesis and unhealthy aging
Aging, Vol. 11, Núm. 18, pp. 7746-7779
2018
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The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis
Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248