Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (43)

2024

  1. Animal models of disease: Achievements and challenges

    Methods in Cell Biology

  2. Preface

    Methods in Cell Biology

2023

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

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

  2. Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells

    Frontiers in Cell and Developmental Biology, Vol. 11

  3. 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. Neuroanatomical and psychological considerations in temporal lobe epilepsy

    Frontiers in Neuroanatomy, Vol. 16

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

    Life, Vol. 12, Núm. 11

  4. 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

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

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

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

  2. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)

    Acta Neuropathologica

  3. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

    Scientific Reports, Vol. 9, Núm. 1

  2. Hypothalamic dopamine signalling regulates brown fat thermogenesis

    Nature Metabolism, Vol. 1, Núm. 8, pp. 811-829

  3. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    Nature Medicine, Vol. 25, Núm. 1, pp. 152-164

2018

  1. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

    Brain, Vol. 141, Núm. 10, pp. 2895-2907

  2. Advances in parkinson’s disease: 200 years later

    Frontiers in Neuroanatomy, Vol. 12