FACULTAD DE CIENCIAS DE LA SALUD
Facultad/Centro de investigación
Institut d'Investigacions Biomèdiques August Pi i Sunyer
Barcelona, EspañaPublications en collaboration avec des chercheurs de Institut d'Investigacions Biomèdiques August Pi i Sunyer (13)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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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
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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Epigenome-wide association study of COVID-19 severity with respiratory failure
EBioMedicine, Vol. 66
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Mitochondrial cristae-remodeling protein OPA1 in POMC neurons couples Ca2+ homeostasis with adipose tissue lipolysis
Cell Metabolism, Vol. 33, Núm. 9, pp. 1820-1835.e9
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SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
Brain, Vol. 144, Núm. 9, pp. 2798-2811
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
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
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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Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor
Human Molecular Genetics, Vol. 24, Núm. 20, pp. 5677-5686
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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