Articles with "p301l mutation" as a keyword



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Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) due to microtubule‐associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy

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Published in 2017 at "Neuropathology and Applied Neurobiology"

DOI: 10.1111/nan.12367

Abstract: 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… read more here.

Keywords: associated protein; microtubule associated; protein tau; tau mapt ... See more keywords