Fisiología, Anatomía y Biología Celular
Département
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (52)
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
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The Evolution of Physical Performance throughout an Entire Season in Female Football Players
Sports, Vol. 12, Núm. 2
2023
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Coenzyme Q10 Levels Associated With Cognitive Functioning and Executive Function in Older Adults
The journals of gerontology. Series A, Biological sciences and medical sciences, Vol. 78, Núm. 1, pp. 1-8
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Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis
eLife, Vol. 12
2022
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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
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Levels of Plasma Coenzyme Q10 Are Associated with Physical Capacity and Cardiovascular Risk in the Elderly
Antioxidants, Vol. 11, Núm. 2
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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular metabolism, Vol. 66, pp. 101648
2021
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Model cells and organisms in mitochondrial diseases
Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 231-271
2020
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Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
Genome Biology, Vol. 21, Núm. 1
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Clinical presentation and proteomic signature of patients with TANGO2 mutations
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308
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Coenzyme Q10 treatment monitoring in different human biological samples
Antioxidants
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency
Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467
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Na+ controls hypoxic signalling by the mitochondrial respiratory chain
Nature, Vol. 586, Núm. 7828, pp. 287-291
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Precision Medicine in Rare Diseases
DISEASES, Vol. 8, Núm. 4
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The Current Coenzyme Q Science and Knowledge
Coenzyme Q in Aging (Springer International Publishing), pp. 3-9
2019
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Plasma coenzyme Q10 status is impaired in selected genetic conditions
Scientific Reports, Vol. 9, Núm. 1
2018
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Molecular diagnosis of coenzyme Q 10 deficiency: an update
Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498
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Cellular and molecular mechanisms of recessive hereditary methaemoglobinaemia type II
Journal of Clinical Medicine, Vol. 7, Núm. 10
2017
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Antidepressants induce autophagy dependent-NLRP3-inflammasome inhibition in Major depressive disorder
Pharmacological Research, Vol. 121, pp. 114-121
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Effect of Coenzyme Q10 on Psychopathological Symptoms in Fibromyalgia Patients
CNS Neuroscience and Therapeutics