Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria La Fe (229)

2024

  1. A genome-wide association meta-analysis of all-cause and vascular dementia

    Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995

  2. ADAMTS13 recovery in acute thrombotic thrombocytopenic purpura after caplacizumab therapy

    Blood, Vol. 143, Núm. 18, pp. 1807-1815

  3. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

    Science advances, Vol. 10, Núm. 41, pp. eadn6525

  4. 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

  5. Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

    Skeletal muscle, Vol. 14, Núm. 1, pp. 21

  6. Diagnóstico y tratamiento de los trastornos de la presión intracraneal: Documento de consenso del Grupo de Estudio de Cefaleas de la Sociedad Española de Neurología

    Neurologia

  7. Feasibility and Short-Term Outcomes in Liver-First Approach: A Spanish Snapshot Study (the RENACI Project)

    Cancers, Vol. 16, Núm. 9

  8. GEMA-Na and MELD 3.0 severity scores to address sex disparities for accessing liver transplantation: a nationwide retrospective cohort study

    eClinicalMedicine, Vol. 74

  9. Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real-life clinical practice

    Experimental Dermatology, Vol. 33, Núm. 8

  10. Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines

    International Journal of Molecular Sciences, Vol. 25, Núm. 10

  11. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

  12. Mohs micrographic surgery in immunosuppressed vs immunocompetent patients: Results of a prospective nationwide cohort study (REGESMOHS, Spanish registry of Mohs surgery)

    Journal of the European Academy of Dermatology and Venereology

  13. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  14. Nueva era terapéutica para el ataque de migraña con los recientemente aprobados anticuerpos monoclonales, ditanes y gepantes

    Revista de neurologia, Vol. 78, Núm. 2, pp. 47-57

  15. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  16. Repeated pancreatic resection for pancreatic metastases from renal cell Carcinoma: A Spanish multicenter study (PANMEKID)

    Surgical Oncology, Vol. 52

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

    European Journal of Human Genetics, Vol. 32, Núm. 7, pp. 770-778

  18. Textbook outcomes in the liver-first approach for colorectal liver metastases: prospective multicentre analysis

    BJS Open, Vol. 8, Núm. 1

  19. Transfusion independence after lenalidomide discontinuation in patients with del(5q) myelodysplastic neoplasm: a HARMONY Alliance study

    Leukemia, Vol. 38, Núm. 10, pp. 2259-2265

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature