Publications in collaboration with researchers from Cardiff University (13)

2023

  1. Clinical relevance of timing of assessment of ICU mortality in patients with moderate-to-severe Acute Respiratory Distress Syndrome

    Scientific Reports, Vol. 13, Núm. 1

2020

  1. Acute severe paediatric asthma: Study protocol for the development of a core outcome set, a Pediatric Emergency Reserarch Networks (PERN) study

    Trials, Vol. 21, Núm. 1

  2. Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

    Brain, Vol. 143, Núm. 9, pp. 2771-2787

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

  2. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

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

    Cortex, Vol. 95, pp. 51-62

  2. Dosimetry-based treatment planning for molecular radiotherapy: A summary of the 2017 report from the Internal Dosimetry Task Force

    EJNMMI Physics, Vol. 4, Núm. 1

  3. Efficacy and safety of the biosimilar ABP 501 compared with adalimumab in patients with moderate to severe rheumatoid arthritis: A randomised, double-blind, phase III equivalence study

    Annals of the Rheumatic Diseases, Vol. 76, Núm. 10, pp. 1679-1687

  4. Variations in the practice of molecular radiotherapy and implementation of dosimetry: results from a European survey

    EJNMMI Physics, Vol. 4, Núm. 1

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. Suicidal ideation in a European Huntington's disease population

    Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258

  2. The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

    PLoS ONE, Vol. 8, Núm. 7