Publicacións en colaboración con investigadores/as de Complejo Hospitalario Universitario de Albacete (10)

2024

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

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

  2. Sex-Stratified Genome-Wide Association Study in the Spanish Population Identifies a Novel Locus for Lacunar Stroke

    Stroke, Vol. 55, Núm. 10, pp. 2462-2471

2022

  1. A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype

    Frontiers in Cardiovascular Medicine, Vol. 9

  2. Multi-Ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke

    Brain, Vol. 145, Núm. 7, pp. 2394-2406

  3. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)

    Nature

  4. Stroke genetics informs drug discovery and risk prediction across ancestries

    Nature, Vol. 611, Núm. 7934, pp. 115-123

2021

  1. Early Neurological Change After Ischemic Stroke Is Associated With 90-Day Outcome

    Stroke, Vol. 52, Núm. 1, pp. 132-141

  2. Rp11-362k2.2:Rp11-767i20.1 genetic variation is associated with post-reperfusion therapy parenchymal hematoma. a gwas meta-analysis

    Journal of Clinical Medicine, Vol. 10, Núm. 14

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

2012

  1. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507