ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
![Foto de Francisco](/img/nophoto.png)
Francisco
Martínez-Azorín
Publikationen, an denen er mitarbeitet Francisco Martínez-Azorín (15)
2022
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First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Human Mutation, Vol. 43, Núm. 10, pp. 1361-1367
2021
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Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
Molecular Genetics and Metabolism, Vol. 133, Núm. 2, pp. 201-210
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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
Brain, Vol. 144, Núm. 9, pp. 2722-2731
2020
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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Journal of Genetics, Vol. 99, Núm. 1
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MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia
American Journal of Medical Genetics, Part A, Vol. 182, Núm. 6, pp. 1483-1490
2019
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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
European Journal of Human Genetics, Vol. 27, Núm. 9, pp. 1369-1378
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730
2018
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Author’s Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome
Pediatric and Developmental Pathology
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Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation
Journal of Human Genetics, Vol. 63, Núm. 4, pp. 525-528
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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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
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