Publications en collaboration avec des chercheurs de Universidade de Lisboa (13)

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

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

2017

  1. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation, Vol. 38, Núm. 3, pp. 297-309

2016

  1. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 132, Núm. 2, pp. 213-224

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

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

2015

  1. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: A European early-onset dementia consortium study

    Neurobiology of Aging, Vol. 36, Núm. 5, pp. 2005.e15-2005.e22

  2. Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

    Human Mutation, Vol. 36, Núm. 12, pp. 1226-1235

2014

  1. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410

2013

  1. Suicidal ideation in a European Huntington's disease population

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

  2. β-defensin genomic copy number does not influence the age of onset in huntington’s disease

    Journal of Huntington's Disease, Vol. 2, Núm. 1, pp. 107-124

2011

  1. NMDA receptor gene variations as modifiers in Huntington disease: A replication study

    PLoS Currents