FACULTAD DE CIENCIAS DE LA SALUD
Facultad/Centro de investigación
KU Leuven
Lovaina, BélgicaPublications en collaboration avec des chercheurs de KU Leuven (15)
2023
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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
Science (New York, N.Y.), Vol. 379, Núm. 6632, pp. eabo3627
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine, Vol. 15, Núm. 1
2021
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SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Journal of Experimental Medicine, Vol. 218, Núm. 6
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
2019
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Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, Vol. 61, pp. 101-105
2018
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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
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Nature Genetics, Vol. 49, Núm. 9, pp. 1373-1384
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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
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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The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients
PLoS ONE, Vol. 8, Núm. 7
2012
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Discrepancies in reporting the CAG repeat lengths for Huntington’s disease
European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26