Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (127)

2024

  1. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

    Science Signaling, Vol. 17, Núm. 822

  2. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

  3. Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production

    Theriogenology, Vol. 218, pp. 111-118

  4. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy

    Muscle and Nerve, Vol. 69, Núm. 4, pp. 472-476

2023

  1. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  2. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

  3. Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease

    Cells, Vol. 12, Núm. 5

  4. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  5. Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome

    Journal of Translational Medicine, Vol. 21, Núm. 1

  6. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  7. Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality

    Neuromuscular Disorders, Vol. 33, Núm. 12, pp. 917-922

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

    Frontiers in Cell and Developmental Biology, Vol. 11

  9. Progranulin Deficiency Induces Mitochondrial Dysfunction in Frontotemporal Lobar Degeneration with TDP-43 Inclusions

    Antioxidants, Vol. 12, Núm. 3

  10. Spastic Paraplegia Type 7 (SPG7)

    Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695

2022

  1. A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1

    Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 749-753

  2. Defects of Nutrient Signaling and Autophagy in Neurodegeneration

    Frontiers in Cell and Developmental Biology, Vol. 10

  3. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  4. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

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

    Frontiers in Neurology, Vol. 13

  6. Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment

    Medicine (United States), Vol. 101, Núm. 48, pp. E31471