Organización Sanitaria Integrada Ezkerraldea-Enkarterri-Cruces
Organización de Osakidetza
Institució Catalana de Recerca i Estudis Avançats
Barcelona, EspañaPublications en collaboration avec des chercheurs de Institució Catalana de Recerca i Estudis Avançats (23)
2024
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)
Nature
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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
2022
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Detailed stratified GWAS analysis for severe COVID-19 in four European populations
Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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SOX9 Triggers Different Epithelial to Mesenchymal Transition States to Promote Pancreatic Cancer Progression
Cancers, Vol. 14, Núm. 4
2021
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Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurology, Vol. 97, Núm. 14, pp. E1367-E1381
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Mapping the human genetic architecture of COVID-19
Nature, Vol. 600, Núm. 7889, pp. 472-477
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Serum metabolic biomarkers for synucleinopathy conversion in isolated REM sleep behavior disorder
npj Parkinson's Disease, Vol. 7, Núm. 1
2020
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Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study
The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246
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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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Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications
Journal of Hepatology, Vol. 73, Núm. 2, pp. 328-341
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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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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
Kidney International, Vol. 94, Núm. 2, pp. 363-371
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Cerebrospinal fluid levels of coenzyme Q10 are reduced in multiple system atrophy
Parkinsonism and Related Disorders, Vol. 46, pp. 16-23
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Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis
The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772
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MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients
Neurobiology of Aging, Vol. 69, pp. 283-291
2015
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Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β
Neurology: Neuroimmunology and NeuroInflammation, Vol. 2, Núm. 5, pp. e154
2014
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Cerebellar ataxia and glutamic acid decarboxylase antibodies: Immunologic profile and long-term effect of immunotherapy
JAMA Neurology, Vol. 71, Núm. 8, pp. 1009-1016