Publicacions en col·laboració amb investigadors/es de Cardiff University (15)

2024

  1. Language-Independent Acoustic Biomarkers for Quantifying Speech Impairment in Huntington's Disease

    American journal of speech-language pathology, Vol. 33, Núm. 3, pp. 1390-1405

  2. Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

    Nature Genetics, Vol. 56, Núm. 1, pp. 27-36

2023

  1. Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) (npj Parkinson's Disease, (2023), 9, 1, (100), 10.1038/s41531-023-00526-9)

    npj Parkinson's Disease

  2. Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

    npj Parkinson's Disease, Vol. 9, Núm. 1

2021

  1. F36 DXA, BIA, anthropometry and skin folds methodology in body composition

    Journal of Neurology, Neurosurgery & Psychiatry: EHDNAbstracts 2021, Vol. 92, Núm. Suppl 1

2019

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

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

2018

  1. Quality of Life in Huntington's Disease: Critique and Recommendations for Measures Assessing Patient Health-Related Quality of Life and Caregiver Quality of Life

    Movement Disorders, Vol. 33, Núm. 5, pp. 742-749

  2. Rating Scales and Performance-based Measures for Assessment of Functional Ability in Huntington's Disease: Critique and Recommendations

    Movement Disorders Clinical Practice, Vol. 5, Núm. 4, pp. 361-372

  3. 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. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    The Lancet Neurology, Vol. 16, Núm. 9, pp. 701-711

  3. Response to letter by Saenz-Farret et al. on “Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations”

    Movement Disorders

2016

  1. Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations

    Movement Disorders, Vol. 31, Núm. 10, pp. 1466-1478

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