CIENCIAS DE LA SALUD
Departamento
Universidade de Lisboa
Lisboa, PortugalPublicacions en col·laboració amb investigadors/es de Universidade de Lisboa (13)
2020
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
2018
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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
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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
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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
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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
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Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations
Movement Disorders, Vol. 31, Núm. 10, pp. 1466-1478
2015
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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
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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
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410
2013
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Suicidal ideation in a European Huntington's disease population
Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258
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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