ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
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Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaCentro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (17)
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
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
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
2018
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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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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1
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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
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Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Hospital Universitario 12 de Octubre
Revista Espanola de Pediatria, Vol. 73, Núm. 1, pp. 41-45
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
2015
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Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency
Pediatrics, Vol. 136, Núm. 2, pp. e424-e432
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
2011
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Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias
Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503
2008
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Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa
Anales de Pediatria, Vol. 69, Núm. 4, pp. 358-365