Publicaciones en colaboración con investigadores/as de Newcastle University (28)

2024

  1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

  2. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  3. Global mortality and readmission rates following COPD exacerbation-related hospitalisation: a meta-analysis of 65 945 individual patients

    ERJ Open Research, Vol. 10, Núm. 1

  4. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Brain, Vol. 147, Núm. 8, pp. 2652-2667

2023

  1. Anti-vascular endothelial growth factor for proliferative diabetic retinopathy

    Cochrane Database of Systematic Reviews, Vol. 2023, Núm. 3

  2. Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification

    Acta Neuropathologica, Vol. 145, Núm. 5, pp. 651-666

  3. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery

    BJS Open, Vol. 6, Núm. 1

2021

  1. The long-term sequelae of COVID-19: an international consensus on research priorities for patients with pre-existing and new-onset airways disease

    The Lancet Respiratory Medicine, Vol. 9, Núm. 12, pp. 1467-1478

2020

  1. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2019

  1. Surgical Performance Determines Functional Outcome Benefit in the Minimally Invasive Surgery Plus Recombinant Tissue Plasminogen Activator for Intracerebral Hemorrhage Evacuation (MISTIE) Procedure

    Clinical Neurosurgery, Vol. 84, Núm. 6, pp. 1157-1168

2017

  1. 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

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  3. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

    Neuromuscular Disorders, Vol. 26, Núm. 2, pp. 153-159

  4. Sentinel node in oral cancer: The nuclear medicine aspects. A survey from the sentinel European node trial

    Clinical Nuclear Medicine, Vol. 41, Núm. 7, pp. 534-542

2015

  1. Lack of bone lesions at diagnosis is associated with inferior outcome in multisystem langerhans cell histiocytosis of childhood

    British Journal of Haematology, Vol. 169, Núm. 2, pp. 241-248

  2. Sentinel European Node Trial (SENT): 3-year results of sentinel node biopsy in oral cancer

    European Journal of Cancer, Vol. 51, Núm. 18, pp. 2777-2784

  3. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

    Journal of Allergy and Clinical Immunology, Vol. 136, Núm. 5, pp. 1337-1345

2014

  1. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

    Nature Genetics, Vol. 46, Núm. 9, pp. 989-993