JOAQUÍN
ARENAS BARBERO
Chercheur jusqu {1}
Cristina
Domínguez González
Publications dans lesquelles il/elle collabore avec Cristina Domínguez González (10)
2024
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Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
Neuroradiology, Vol. 66, Núm. 3, pp. 389-398
2023
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High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
European Journal of Neurology, Vol. 30, Núm. 2, pp. 538-547
2022
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Genes, Vol. 13, Núm. 10
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Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations
Journal of Clinical Medicine, Vol. 11, Núm. 1
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Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 728-735
2020
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A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues
Mitochondrion, Vol. 50, pp. 14-18
2018
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Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders
Medicine and Science in Sports and Exercise, Vol. 50, Núm. 6, pp. 1142-1151
2016
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A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation
Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
2015
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A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy
Journal of the Neurological Sciences