JOAQUÍN
ARENAS BARBERO
Investigador ata 2007
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de 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