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Article

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.

Acta neuropathologica - 1 Jul 1999

Delisle M B, Murrell J R, Richardson R, Trofatter J A, Rascol O, Soulages X, Mohr M, Calvas P, Ghetti B

Abstract excerpt

Recently intronic and exonic mutations in the Tau gene have been found to be associated with familial neurodegenerative syndromes characterized not only by a predominantly frontotemporal dementia but also by the presence of neurological signs consistent with the dysfunction of multiple subcortical neuronal circuitries. Among families, the symptomatology appears to vary in quality and severity in relation to the...

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PMID: 10412802
DOI: 10.1007/s004010051052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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