Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (14)

2024

  1. Characterization of brain transduction capability of a BBB-penetrant AAV vector in mice, rats and macaques reveals differences in expression profiles

    Gene Therapy, Vol. 31, Núm. 9-10, pp. 455-466

  2. Levodopa-Induced Dyskinesias are Frequent and Impact Quality of Life in Parkinson's Disease: A 5-Year Follow-Up Study

    Movement Disorders Clinical Practice, Vol. 11, Núm. 7, pp. 830-849

  3. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

    Gut

2023

  1. Engineering U1-Based Tetracycline-Inducible Riboswitches to Control Gene Expression in Mammals

    ACS Nano, Vol. 17, Núm. 23, pp. 23331-23346

  2. Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome

    Journal of Molecular Medicine, Vol. 101, Núm. 12, pp. 1587-1601

2022

  1. Dysautonomia in COVID-19 Patients: A Narrative Review on Clinical Course, Diagnostic and Therapeutic Strategies

    Frontiers in Neurology, Vol. 13

  2. Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment

    Life, Vol. 12, Núm. 11

  3. Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria

    Science Translational Medicine, Vol. 14, Núm. 627

2021

  1. Armcx3 mediates susceptibility to hepatic tumorigenesis promoted by dietary lipotoxicity

    Cancers, Vol. 13, Núm. 5, pp. 1-22

  2. Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2020

  1. Brain ventricular enlargement in human and murine acute intermittent porphyria

    Human molecular genetics, Vol. 29, Núm. 19, pp. 3211-3223

2017

  1. Adeno-associated viral vectors serotype 8 for cell-specific delivery of therapeutic genes in the central nervous system

    Frontiers in Neuroanatomy, Vol. 11

2013

  1. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs

    Human Mutation, Vol. 34, Núm. 10, pp. 1387-1395

  2. PrPC regulates epidermal growth factor receptor function and cell shape dynamics in Neuro2a cells

    Journal of Neurochemistry, Vol. 127, Núm. 1, pp. 124-138