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Article

Clinicopathologic correlations in a family with aTBK1mutation presenting as primary progressive aphasia and primary lateral sclerosis

27 Jun 2019

Abstract excerpt

Mutations in the TANK binding kinase 1 gene (TBK1) are associated with amyotrophic lateral sclerosis and/or frontotemporal dementia; however, the range of clinical phenotypes and neuropathological changes associated with these mutations have not yet been completely elucidated. We present the detailed clinical, neuroimaging, and neuropathological features of two brothers carrying the TBK1 p.Gly272_Thr331del...

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PMID: 31244341
DOI: 10.1080/21678421.2019.1632347

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