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Article

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

Annals of neurology - 1 Dec 2000

Lippa C F, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee L E, Grafman J, Liang Y, St George-Hyslop P H, Trojanowski J Q, Lee V M

Abstract excerpt

It is unclear how tau gene mutations cause frontotemporal dementia (FTD) with parkinsonism linked to chromosome 17 (FTDP-17), but those in exon 10 (E10) or the following intron may be pathogenic by altering E10 splicing, perturbing the normal 1:1 ratio of four versus three microtubule-binding rep...

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PMID: 11117541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11117541-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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