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Open access Sep 2026

Identity-by-descent to resolve reduced penetrance and advance gene discovery in neurodegenerative disease.

Advances in sequencing technologies have transformed human genetics and accelerated disease gene discovery. Yet a causal mutation remains to be identified for many families with an inherited disease. Incomplete penetrance, genetic heterogeneity, and limited family history can complicate the binary classification of fam...

L. Henden, Sandrine Chan Moi Fat, Andrew N. Smith et al. · 0 citations
Open access Aug 2026

Language impairments in behavioural variant frontotemporal dementia: a comparative study with semantic dementia

This study aimed to profile patterns of language performance within both "probable" and "possible" categories of bvFTD and to compare them to SD, while also considering the relationships between language and executive function measures.

Sharon A. Savage, Ohnmar Aung, D. Foxe et al. · 0 citations

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