Publicaciones en colaboración con investigadores/as de Charles University in Prague (17)

2024

  1. Simulation to become a better neurosurgeon. An international prospective controlled trial: The Passion study

    Brain and Spine, Vol. 4

2023

  1. In-hospital and 6-month outcomes in patients with COVID-19 supported with extracorporeal membrane oxygenation (EuroECMO-COVID): a multicentre, prospective observational study

    The Lancet Respiratory Medicine, Vol. 11, Núm. 2, pp. 151-162

2022

  1. Clinical and organizational factors associated with mortality during the peak of first COVID-19 wave: the global UNITE-COVID study

    Intensive Care Medicine, Vol. 48, Núm. 6, pp. 690-705

  2. Correction to: Clinical and organizational factors associated with mortality during the peak of first COVID-19 wave: the global UNITE-COVID study (Intensive Care Medicine, (2022), 48, 6, (690-705), 10.1007/s00134-022-06705-1)

    Intensive Care Medicine

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

2020

  1. Changing epidemiology of the respiratory bacteriology of patients with cystic fibrosis–data from the European cystic fibrosis society patient registry

    Journal of Cystic Fibrosis, Vol. 19, Núm. 3, pp. 376-383

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

  2. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

    Annals of the Rheumatic Diseases, Vol. 78, Núm. 10, pp. 1405-1411

2018

  1. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

  1. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

2014

  1. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: An international collaboration

    Pediatric Rheumatology, Vol. 12, Núm. 1

2013

  1. Suicidal ideation in a European Huntington's disease population

    Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258

  2. The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

    PLoS ONE, Vol. 8, Núm. 7

2012

  1. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease

    European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26

2010

  1. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754

  2. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110