A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The phenotype is highly variable and has been associated with behavioral variant FTD, primary progressive aphasia, and pure ALS. We describe the...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J., Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L., Morris, Huw R.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549548/
https://ncbi.nlm.nih.gov/pubmed/31160356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003913
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