Publicaciones en colaboración con investigadoras/es de Hospital Universitario de Donostia (395)

2024

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

    Science Signaling, Vol. 17, Núm. 822

  2. A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells

    npj Parkinson's Disease, Vol. 10, Núm. 1

  3. Association of retinal neurodegeneration with the progression of cognitive decline in Parkinson’s disease

    npj Parkinson's Disease, Vol. 10, Núm. 1

  4. Clinical and Epidemiological Characteristics of the 2022 Mpox Outbreak in Spain (CEME-22 Study)

    Open Forum Infectious Diseases, Vol. 11, Núm. 3

  5. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  6. Health service and psychotropic medication use for mental health conditions among healthcare workers active during the Spain Covid-19 Pandemic – A prospective cohort study using web-based surveys.

    Psychiatry Research, Vol. 334

  7. 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

  8. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

    Movement Disorders, Vol. 39, Núm. 1, pp. 209-214

  9. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

    European Journal of Human Genetics

  10. 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

  11. Umbrella Review: Atlas of the Meta-Analytical Evidence of Early-Onset Psychosis

    Journal of the American Academy of Child and Adolescent Psychiatry

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. Association of candidate genetic variants and circulating levels of ApoE/ApoJ with common neuroimaging features of cerebral amyloid angiopathy

    Frontiers in Aging Neuroscience, Vol. 15

  3. Beyond hyperglycemia: glycaemic variability as a prognostic factor after acute ischemic stroke

    Neurologia, Vol. 38, Núm. 3, pp. 150-158

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

    Cells, Vol. 12, Núm. 5

  5. Changes in Principal Caregiver Mood Affects the Mood of the Parkinson's Disease Patient: The Vicious Cycle of Illness

    Journal of Parkinson's disease, Vol. 13, Núm. 2, pp. 219-231

  6. Characteristics of stroke units and stroke teams in Spain in 2018. Pre2Ictus project

    Neurologia, Vol. 38, Núm. 3, pp. 173-180

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

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

  8. Corrigendum: Clinical and genetic analysis of Costa Rican patients with Parkinson's disease (Front. Neurol., (2022), 12, 656342, 10.3389/fneur.2021.656342)

    Frontiers in Neurology

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

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