Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation

BACKGROUND: The Arg406Trp (R406W) missense mutation in the microtubule associated protein-tau gene (MAPT) is a known cause of early-onset dementia (EOD). Various dementia phenotypes have been described, including frontotemporal dementia (FTD), FTD with Parkinsonism, and early-onset Alzheimer Disease...

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Hlavní autoři: Carney, Regina M., Kohli, Martin A., Kunkle, Brian W., Naj, Adam C., Gilbert, John R., Züchner, Stephan, Pericak-Vance, Margaret A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3762928/
https://ncbi.nlm.nih.gov/pubmed/23727082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jalz.2013.02.011
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