JOAQUÍN
ARENAS BARBERO
Forscher bis um 2007
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (29)
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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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
2017
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Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene
Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420
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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53
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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First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
Neurogenetics, Vol. 17, Núm. 1, pp. 51-56
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Neurogenetics, Vol. 17, Núm. 4, pp. 259-263
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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
2013
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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
BMC Nephrology, Vol. 14, Núm. 1
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Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome
Human Mutation, Vol. 34, Núm. 12, pp. 1623-1627
2012
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Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies
Mitochondrion, Vol. 12, Núm. 2, pp. 357-362
2009
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Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA
Journal of Medical Genetics, Vol. 46, Núm. 3, pp. 198-202
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Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency
Mitochondrion, Vol. 9, Núm. 5, pp. 299-305
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The second wind phenomenon in very young McArdle's patients
Neuromuscular Disorders, Vol. 19, Núm. 6, pp. 403-405
2008
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Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: The role of nonsense-mediated mRNA decay
Human Mutation, Vol. 29, Núm. 2, pp. 277-283
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McArdle disease: Another systemic low-inflammation disorder?
Neuroscience Letters, Vol. 431, Núm. 2, pp. 106-111