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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
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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
- A1
- open access
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
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- Journal Article
- A1
- open access
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
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A pan-European study of the C9orf72 repeat associated with FTLD : geographic prevalence, genomic instability, and intermediate repeats