Publicaciones en las que colabora con Gloria Teresa Brea Calvo (6)
2024
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COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
Molecular Cell, Vol. 84, Núm. 5, pp. 981-989.e7
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COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
European Journal of Human Genetics, Vol. 32, Núm. 8, pp. 938-946
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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
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
2016
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58