Publications en collaboration avec des chercheurs de Newcastle University (16)

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

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

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

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

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. 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

2013

  1. Early surgery versus initial conservative treatment in patients with spontaneous supratentorial lobar intracerebral haematomas (STICH II): A randomised trial

    The Lancet, Vol. 382, Núm. 9890, pp. 397-408

  2. Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis

    Blood, Vol. 121, Núm. 25, pp. 5006-5014

2012

  1. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Nature Genetics

2008

  1. Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

    Journal of Inherited Metabolic Disease, Vol. 31, Núm. 1, pp. 55-66

2003

  1. International variations in surgical practice for spontaneous intracerebral hemorrhage

    Stroke, Vol. 34, Núm. 11, pp. 2593-2597