FACULTAD DE CIENCIAS DE LA SALUD
Facultad/Centro de investigación
Karolinska University Hospital
Estocolmo, SueciaPublicacións en colaboración con investigadores/as de Karolinska University Hospital (25)
2023
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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
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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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Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
Scientific Reports, Vol. 10, Núm. 1
2019
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Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, Vol. 61, pp. 101-105
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Scientific Reports, Vol. 9, Núm. 1
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Neurological disorders in central Spain, second survey: Feasibility pilot observational study
Journal of Medical Internet Research, Vol. 21, Núm. 1
2018
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A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Brain, Vol. 141, Núm. 10, pp. 2895-2907
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Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies
PLoS Medicine, Vol. 15, Núm. 1
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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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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487
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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
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
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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Frontotemporal dementia and its subtypes: A genome-wide association study
The Lancet Neurology, Vol. 13, Núm. 7, pp. 686-699
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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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Attentional mechanisms in judging genuine and Fake smiles: Eye-movement patterns
Emotion, Vol. 13, Núm. 4, pp. 792-802