Publicaciones en colaboración con investigadores/as de Leeds and York Partnership NHS Foundation Trust (25)

2020

  1. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279

2019

  1. Week 96 efficacy and safety results of the phase 3, randomized EMERALD trial to evaluate switching from boosted-protease inhibitors plus emtricitabine/tenofovir disoproxil fumarate regimens to the once daily, single-tablet regimen of darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) in treatment-experienced, virologically-suppressed adults living with HIV-1

    Antiviral Research, Vol. 170

2018

  1. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

    Muscle and Nerve, Vol. 57, Núm. 3, pp. 380-387

  2. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Skeletal Muscle, Vol. 8, Núm. 1

  3. Guidance on Noncorticosteroid Systemic Immunomodulatory Therapy in Noninfectious Uveitis: Fundamentals Of Care for UveitiS (FOCUS) Initiative

    Ophthalmology, Vol. 125, Núm. 5, pp. 757-773

  4. Human Early Life Exposome (HELIX) study: A European population-based exposome cohort

    BMJ Open, Vol. 8, Núm. 9

  5. Is the association of replete status in Vitamin D with better results in IVF demonstrated?

    Human Reproduction

  6. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    The Lancet Neurology, Vol. 17, Núm. 6, pp. 548-558

  7. Risk factors for unfavourable postoperative outcome in patients with Crohn's disease undergoing right hemicolectomy or ileocaecal resection. An international audit by ESCP and S-ECCO

    Colorectal Disease, Vol. 20, Núm. 3, pp. 219-227

2017

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

    Cortex, Vol. 95, pp. 51-62

  2. Erratum to: Scaling up strategies of the chronic respiratory disease programme of the European Innovation Partnership on Active and Healthy Ageing (Action Plan B3: Area 5)(Clin Transl Allergy (2016) 6 (29) DOI: 10.1186/s13601-016-0116-9)

    Clinical and Translational Allergy

  3. 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

  4. 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

  5. Healthcare access and quality index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990-2015: A novel analysis from the global burden of disease study 2015

    The Lancet, Vol. 390, Núm. 10091, pp. 231-266

  6. Immediate and prolonged-release melatonin in children with neurodevelopmental disabilities. Author reply to Prof. Zisapel

    European Journal of Paediatric Neurology

  7. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

  8. Variation in monitoring and treatment policies for intracranial hypertension in traumatic brain injury: A survey in 66 neurotrauma centers participating in the CENTER-TBI study

    Critical Care, Vol. 21, Núm. 1

2016

  1. Scaling up strategies of the chronic respiratory disease programme of the European Innovation Partnership on Active and Healthy Ageing (Action Plan B3: Area 5)

    Clinical and Translational Allergy, Vol. 6, Núm. 1

  2. The IASLC lung cancer staging project: Proposals for revision of the TNM stage groupings in the forthcoming (eighth) edition of the TNM Classification for lung cancer

    Journal of Thoracic Oncology, Vol. 11, Núm. 1, pp. 39-51

  3. Variation in structure and process of care in traumatic brain injury: Provider profiles of European Neurotrauma Centers participating in the CENTER-TBI study

    PLoS ONE, Vol. 11, Núm. 8