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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發表在: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.
格式: Artigo
語言:Inglês
出版: Cold Spring Harbor Laboratory Press 2019
主題:
Research Report
在線閱讀: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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