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- Journal Article
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- open access
Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity
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- Journal Article
- A1
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Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
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Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults
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IRF2BPL is associated with neurological phenotypes
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Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease
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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
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Future perspectives of genome-scale sequencing
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- Journal Article
- A1
- open access
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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- Journal Article
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TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis
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- Journal Article
- A1
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Developmental expression of 4-repeat-Tau induces neuronal aneuploidy in Drosophila tauopathy models