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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Bibliografiska uppgifter
I publikationen:Cold Spring Harb Mol Case Stud
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2019
Ämnen:
Research Report
Länkar: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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