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Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Alzheimer's research & therapy - 13 Jun 2024

Nan Haitian, Kim Yeon-Jeong, Chu Min, Li Dan, Li Jieying, Jiang Deming, Wu Yiming, Ohtsuka Toshihisa, Wu Liyong

Abstract excerpt

BACKGROUND: Our study aims to evaluate the genetic and phenotypic spectrum of Frontotemporal dementia (FTD) gene variant carriers in Chinese populations, investigate mutation frequencies, and assess the functional properties of TBK1 and OPTN variants. METHODS: Clinically diagnosed FTD patients underwent genetic analysis through exome sequencing, repeat-primed polymerase chain reaction, and Sanger sequencing. TBK1...

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PMID: 38872230
DOI: 10.1186/s13195-024-01493-w
PMCID: PMC11170894

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