Accès ouvert
2026
article
OpenAlex
Kiet Hua, Maryam R. Pearson, Brandon I. Apresa, Jesseca M. Chung et autres
Abstract Frontotemporal dementia represents a group of clinical syndromes characterized by progressive changes in behavior or language that are associated with frontotemporal lobe atrophy. Around 40% of FTD cases are familial, with mutations in MAPT representing a major familial form. Among MAPT …
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Accès ouvert
2025
article
OpenAlex
Youjin Jung, Jolina Lombardi, Rowan Heffelfinger, Sarah Inkelis et autres
BACKGROUND: The current conceptualization of genetic frontotemporal dementia (FTD) and Alzheimer's disease (AD) is that they are neurodegenerative diseases characterized by symptoms that develop late in life. Yet, studies in animal models and humans support the notion that autosomal dominant genes, whose …
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Accès ouvert
2025
preprint
OpenAlex
Caroline Jonson, Mary B. Makarious, Mathew J. Koretsky, Dan Vitale et autres
Variants of uncertain significance (VUS) are a bottleneck for genetic discovery and complicate clinical decision-making in Alzheimer's disease and related neurological disorders (ADRD). We developed MoVUS: Model for Variants of Unknown Significance, a random-forest approach that integrates functional predictors to classify missense …
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