A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease

Pick disease (PiD) is a frontotemporal lobar degeneration with distinctive neuronal inclusions (Pick bodies) that are enriched in 3-repeat (3R) tau. Although mostly sporadic, mutations in the tau gene (MAPT) have been reported. We screened 24 cases of neuropathologically confirmed PiD for MAPT mutat...

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Vydáno v:J Neuropathol Exp Neurol
Hlavní autoři: Tacik, Pawel, DeTure, Michael, Hinkle, Kelly M., Lin, Wen-Lang, Sanchez-Contreras, Monica, Carlomagno, Yari, Pedraza, Otto, Rademakers, Rosa, Ross, Owen A., Wszolek, Zbigniew K., Dickson, Dennis W.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607649/
https://ncbi.nlm.nih.gov/pubmed/26426266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0000000000000248
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