AURELIO
HERNÁNDEZ LAÍN
Profesor asociado de Ciencias de la Salud
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (23)
2024
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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
Journal of Neurology, Vol. 271, Núm. 2, pp. 986-994
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Journal of Human Genetics, Vol. 69, Núm. 5, pp. 187-196
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Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
Scientific Reports, Vol. 14, Núm. 1
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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Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Neuromuscular Disorders, Vol. 33, Núm. 12, pp. 983-987
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events
Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619
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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Acta Neuropathologica, Vol. 145, Núm. 1, pp. 127-143
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Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
American journal of physiology. Cell physiology, Vol. 324, Núm. 3, pp. C769-C776
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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Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
Muscle and Nerve
2021
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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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Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
Molecular Genetics and Metabolism Reports, Vol. 26
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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Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
Journal of Neurology, Vol. 267, Núm. 9, pp. 2546-2555
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SOD1 mutations in adult-onset distal spinal muscular atrophy
European Journal of Neurology
2019
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Adult-onset distal spinal muscular atrophy: A new phenotype associated with KIF5A mutations
Brain
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Bethlem myopathy: a series of 16 patients and description of seven new associated mutations
Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941
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
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