Publications en collaboration avec des chercheurs de Universidade Federal do Rio Grande do Sul (12)

2021

  1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073

  2. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)

    Genetics in Medicine

  3. 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. Active tuberculosis, sequelae and COVID-19 co-infection: First cohort of 49 cases

    European Respiratory Journal

  2. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Genetics in Medicine, Vol. 22, Núm. 11, pp. 1851-1862

  3. Worldwide Effects of Coronavirus Disease Pandemic on Tuberculosis Services, January–April 2020

    Emerging Infectious Diseases, Vol. 26, Núm. 11, pp. 2709-2712

2017

  1. Global, regional, and national age-sex specifc mortality for 264 causes of death, 1980-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1151-1210

  2. Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1084-1150

2015

  1. Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 385, Núm. 9963, pp. 117-171

  2. Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 10010, pp. 2287-2323

  3. Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries, 1990-2013: Quantifying the epidemiological transition

    The Lancet, Vol. 386, Núm. 10009, pp. 2145-2191

  4. Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 9995, pp. 743-800