F. Ciencias de la Salud
Facultades
Institut d'Investigacions Biomèdiques August Pi i Sunyer
Barcelona, EspañaPublications in collaboration with researchers from Institut d'Investigacions Biomèdiques August Pi i Sunyer (10)
2021
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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
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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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Epigenome-wide association study of COVID-19 severity with respiratory failure
EBioMedicine, Vol. 66
2020
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
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Autoantibodies against type I IFNs 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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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
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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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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
2014
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410