Instituto de Salud Carlos III -ko ikertzaileekin lankidetzan egindako argitalpenak (11)

2022

  1. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

    Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29

2021

  1. 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

  2. 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

  3. 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

  1. Update of the Spanish registry of haemoglobinopathies in children and adults

    Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103

2019

  1. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

  2. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

    Neurologia, Vol. 32, Núm. 6, pp. 377-385

  2. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. 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

  1. 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