Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Mutations in the Tank-binding kinase 1 (TBK1) gene were identified in 2015 in individuals with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). They account for ∼3–4% of cases. To date, over 100 distinct mutations, including missense, nonsense, deletion, insertion, d...

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Bibliographic Details
Main Authors: Yuval Gurfinkel, Nicole Polain, Krushna Sonar, Penelope Nice, Ricardo L. Mancera, Sarah Lyn Rea
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:Neurobiology of Disease
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Online Access:http://www.sciencedirect.com/science/article/pii/S0969996122002510

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