PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Instituto de Salud Carlos III
Madrid, EspañaPublications en collaboration avec des chercheurs de Instituto de Salud Carlos III (11)
2022
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Incidence and Prevalence of Children's Diffuse Lung Disease in Spain
Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2020
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Update of the Spanish registry of haemoglobinopathies in children and adults
Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103
2019
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2017
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Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos
Neurologia, Vol. 32, Núm. 6, pp. 377-385
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2016
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Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation, and mutation-dependent neurodegeneration by dysfunction of the autophagic flux
Journal of Biological Chemistry, Vol. 291, Núm. 41, pp. 21363-21374
2010
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Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291