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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
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- Journal Article
- A1
- open access
TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis
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- Journal Article
- A2
- open access
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
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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