Publicaciones en colaboración con investigadores/as de University of Edinburgh (13)

2023

  1. Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget’s disease of bone

    Annals of the Rheumatic Diseases, Vol. 83, Núm. 4, pp. 529-536

2020

  1. Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort

    Journal of Bone and Mineral Research, Vol. 35, Núm. 7, pp. 1246-1252

2019

  1. Zoledronate in the prevention of Paget's (ZiPP): Protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone

    BMJ Open, Vol. 9, Núm. 9

2018

  1. Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder

    Journal of Autism and Developmental Disorders, Vol. 48, Núm. 7, pp. 2490-2505

  2. Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

    Annals of the rheumatic diseases, Vol. 77, Núm. 3, pp. 378-385

2017

  1. Attitudes of the autism community to early autism research

    Autism

  2. Bisphosphonates for Paget's disease of bone in adults

    Cochrane Database of Systematic Reviews, Vol. 2017, Núm. 12

  3. Clinical and Genetic Advances in Paget’s Disease of Bone: a Review

    Clinical Reviews in Bone and Mineral Metabolism, Vol. 15, Núm. 1, pp. 37-48

2016

  1. Use of early intervention for young children with autism spectrum disorder across Europe

    Autism, Vol. 20, Núm. 2, pp. 233-249

2013

  1. Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

    Journal of Bone and Mineral Research, Vol. 28, Núm. 11, pp. 2338-2346

  2. Epidemiology of Paget's disease of bone: A systematic review and meta-analysis of secular changes

    Bone, Vol. 55, Núm. 2, pp. 347-352

  3. Secular changes in Paget's disease: Contrasting changes in the number of new referrals and in disease severity in two neighboring regions of Spain

    Osteoporosis International, Vol. 24, Núm. 2, pp. 443-450

2010

  1. Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

    Nature Genetics, Vol. 42, Núm. 6, pp. 520-524