Articles with "mutation brazil" as a keyword



ALS due to a novel TBK1 mutation in Brazil

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Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"

DOI: 10.1080/21678421.2022.2028169

Abstract: Abstract TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset). Despite treatment with… read more here.

Keywords: tbk1 mutation; mutation brazil; als due; novel tbk1 ... See more keywords