A mutation at codon 279 (N279k) in exon 10 of the Tau gene causes a tauopathy with dementia and supr...
A mutation at codon 279 (N279k) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
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Author / Creator
DELISLE, M.-B , MURRELL, J. R , RICHARDSON, R , TROFATTER, J. A , RASCOL, O , SOULAGES, X , MOHR, M , CALVAS, P and GHETTI, B
Publisher
Berlin: Springer
Journal title
Language
English
Formats
Publication information
Publisher
Berlin: Springer
Subjects
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Scope and Contents
Contents
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 symptomat...
Alternative Titles
Full title
A mutation at codon 279 (N279k) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
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Record Identifier
TN_cdi_proquest_miscellaneous_69898209
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69898209
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s004010051052
