Publications en collaboration avec des chercheurs de Hospital Clínico de la Universidad de Chile (14)

2024

  1. 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

2023

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

    Nature

  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

2022

  1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  2. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2021

  1. ARIA digital anamorphosis: Digital transformation of health and care in airway diseases from research to practice

    Allergy: European Journal of Allergy and Clinical Immunology, Vol. 76, Núm. 1, pp. 168-190

  2. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  3. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

2020

  1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

2019

  1. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

  2. Next-generation ARIA care pathways for rhinitis and asthma: A model for multimorbid chronic diseases

    Clinical and Translational Allergy, Vol. 9, Núm. 1

2017

  1. Dual Therapy with Darunavir and Ritonavir Plus Lamivudine vs Triple Therapy with Darunavir and Ritonavir Plus Tenofovir Disoproxil Fumarate and Emtricitabine or Abacavir and Lamivudine for Maintenance of Human Immunodeficiency Virus Type 1 Viral Suppression: Randomized, Open-Label, Noninferiority DUAL-GESIDA 8014-RIS-EST45 Trial

    Clinical Infectious Diseases, Vol. 65, Núm. 12, pp. 2112-2118

2014

  1. Integrated care pathways for airway diseases (AIRWAYS-ICPs)

    European Respiratory Journal, Vol. 44, Núm. 2, pp. 304-323

2011

  1. Revisión de las novedades presentadas en el XXVI Congreso del Comité Europeo para el Tratamiento e Investigación en Esclerosis Múltiple (ECTRIMS) (I)

    Revista de Neurologia, Vol. 52, Núm. 4, pp. 227-238