Publicacions en col·laboració amb investigadors/es de Instituto de Salud Carlos III (19)

2023

  1. Microglia activation and neuronal alterations in retinas from COVID-19 patients: correlation with clinical parameters

    Eye and Vision, Vol. 10, Núm. 1

2022

  1. Functional specialization of different PI3K isoforms for the control of neuronal architecture, synaptic plasticity, and cognition

    Science advances, Vol. 8, Núm. 47, pp. eabq8109

  2. Sodium Hyaluronate-Induced Ocular Hypertension in Rats Damages the Direction-Selective Circuit and Inner/Outer Retinal Plexiform Layers

    Investigative ophthalmology & visual science, Vol. 63, Núm. 5, pp. 2

  3. Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish

    International Journal of Molecular Sciences, Vol. 23, Núm. 17

2021

  1. Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition

    PLoS Biology, Vol. 19, Núm. 5

  2. Phenotypic differences in a prph2 mutation in members of the same family assessed with oct and octa

    Diagnostics, Vol. 11, Núm. 5

2020

  1. Role of guca1c in primary congenital glaucoma and in the retina: Functional evaluation in zebrafish

    Genes, Vol. 11, Núm. 5

2018

  1. Insight into vitamin B 6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations

    Human Mutation, Vol. 39, Núm. 7, pp. 1002-1013

  2. Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer

    Medicina Clinica, Vol. 151, Núm. 2, pp. 80.e1-80.e10

  3. The PII-NAGK-PipX-NtcA regulatory axis of cyanobacteria: A tale of changing partners, allosteric effectors and non-covalent interactions

    Frontiers in Molecular Biosciences, Vol. 5, Núm. NOV

2017

  1. Performance of a quantitative pcrbased assay and beta-D-glucan detection for diagnosis of invasive candidiasis in very-low-birth-weight preterm neonatal patients (candineo study)

    Journal of Clinical Microbiology, Vol. 55, Núm. 9, pp. 2752-2764

  2. PipY, a member of the conserved COG0325 family of PLP-binding proteins, expands the cyanobacterial nitrogen regulatory network

    Frontiers in Microbiology, Vol. 8, Núm. JUL

2016

  1. Identification of the photoreceptor transcriptional Co-Repressor SAMD11 as novel cause of autosomal recessive retinitis pigmentosa

    Scientific Reports, Vol. 6

  2. On the Origin of CRISPR-Cas Technology: From Prokaryotes to Mammals

    Trends in Microbiology, Vol. 24, Núm. 10, pp. 811-820

2015

  1. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

    Scientific Reports, Vol. 5

  2. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Human Molecular Genetics, Vol. 24, Núm. 14, pp. 4037-4048

2012

  1. Calcineurin expression and activity is regulated by the intracellular redox status and under hypertension in human neutrophils

    Journal of Endocrinology, Vol. 214, Núm. 3, pp. 399-408

2008

  1. Heme oxygenase-1 expression is down-regulated by angiotensin II and under hypertension in human neutrophils

    Journal of Leukocyte Biology, Vol. 84, Núm. 2, pp. 397-405

2001

  1. El laboratorio de microbiología clínica en el brote de Legionella spp. en la comarca de Alcoy: Rentabilidad de las diferentes técnicas diagnósticas

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 19, Núm. 9, pp. 435-438