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Article

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

18 May 2021

Abstract excerpt

Objective Despite the strong genetic component of frontotemporal dementia (FTD), a substantial proportion of patients remain genetically unresolved. We performed an in-depth study of a family with an autosomal dominant form of FTD to investigate the underlying genetic cause. Methods Following clinical and pathologic characterization of the family, genetic studies included haplotype sharing analysis and exome...

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PMID: 34169147
DOI: 10.1212/nxg.0000000000000596

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