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Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia.

Neurobiology of aging - 1 Mar 2023

Cheng Hong-Rong, Lin Rong-Rong, Li Hong-Lei, Xue Yan-Yan, Gao Pei-Rong, Chen Dian-Fu, Tao Qing-Qing, Wu Zhi-Ying

Abstract excerpt

Frontotemporal dementia (FTD) is the second most common cause of dementia after Alzheimer's disease, characterized by distinct changes in behavior, personality, and language. Our study performed whole exome sequencing and repeat-primed PCR analysis in 29 unrelated FTD patients. Consequently, 2 known pathogenic variants (MAPT: p.P301L; TBK1: p.I450Kfs), and 4 novel variants (MAPT: p.R406Q, p.D430H, p.A330D; GRN:...

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PMID: 36641371
DOI: 10.1016/j.neurobiolaging.2022.12.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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