Publications in collaboration with researchers from Instituto de Salud Carlos III (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