Clinicopathologic heterogeneity in FTDP-17 due to MAPT p.P301L mutation, including a patient with globular glial tauopathy

AIM: The p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to...

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Vydáno v:Neuropathol Appl Neurobiol
Hlavní autoři: Tacik, Pawel, Sanchez-Contreras, Monica, DeTure, Michael, Murray, Melissa E., Rademakers, Rosa, Ross, Owen A., Wszolek, Zbigniew K., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Dickson, Dennis W.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5386812/
https://ncbi.nlm.nih.gov/pubmed/27859539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nan.12367
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