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Article

Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

JAMA neurology - 1 Jan 2017

Freischmidt Axel, Müller Kathrin, Ludolph Albert C, Weishaupt Jochen H, Andersen Peter M

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative syndromes that occur sporadically or have been associated with mostly dominant inheritance of mutations in more than 30 genes. A critical issue is whether all reported mutations are disease causing or are coincidental findings. In this review we analyze the pathogenicity of nonsynonymous variants in the newly...

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Source

Identifiers

PMID: 27892983
DOI: 10.1001/jamaneurol.2016.3712

Genes

TBK1
TANK

Provenance

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