Medicina
Facultad
Miguel Angel
Martín Casanueva
Publicaciones en las que colabora con Miguel Angel Martín Casanueva (135)
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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Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
Journal of Clinical Medicine, Vol. 12, Núm. 9
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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
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Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma
Genes, Vol. 14, Núm. 7
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Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
Journal of Clinical Medicine, Vol. 12, Núm. 6
2022
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A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness
Brain : a journal of neurology, Vol. 145, Núm. 10, pp. e99-e102
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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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Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
Journal of Neurology, Vol. 269, Núm. 6, pp. 3238-3248
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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
2021
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Pathogenetic and prognostic implications of increased mitochondrial content in multiple myeloma
Cancers, Vol. 13, Núm. 13
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Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype
Neurology, Vol. 96, Núm. 21, pp. 1007-1009
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Plasma gelsolin reinforces the diagnostic value of fgf-21 and gdf-15 for mitochondrial disorders
International Journal of Molecular Sciences, Vol. 22, Núm. 12
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Preferent diaphragmatic involvement in tk2 deficiency: An autopsy case study
International Journal of Molecular Sciences, Vol. 22, Núm. 11
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Soluble fms-like tyrosine kinase-1: A potential early predictor of respiratory failure in COVID-19 patients
Clinical Chemistry and Laboratory Medicine
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
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646
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Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy
BMJ Open Respiratory Research, Vol. 7, Núm. 1
2019
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Collagen XIX alpha 1 improves prognosis in amyotrophic lateral sclerosis
Aging and Disease, Vol. 10, Núm. 2, pp. 278-292
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11