Medicina Legal, Psiquiatría y Patología
Departamento
Miguel Angel
Martín Casanueva
Publicaciones en las que colabora con Miguel Angel Martín Casanueva (14)
2023
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Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
Journal of Clinical Medicine, Vol. 12, Núm. 9
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, 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
2021
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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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Preferent diaphragmatic involvement in tk2 deficiency: An autopsy case study
International Journal of Molecular Sciences, Vol. 22, Núm. 11
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
2019
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Late-onset thymidine kinase 2 deficiency: A review of 18 cases
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2017
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Muscle fiber type proportion and size is not altered in mcardle disease
Muscle and Nerve, Vol. 55, Núm. 6, pp. 916-918
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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
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
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Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy
Neurology