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Article

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

Journal of neurology - 1 Dec 2005

Giaccone Giorgio, Rossi Giacomina, Farina Laura, Marcon Gabriella, Di Fede Giuseppe, Catania Marcella, Morbin Michela, Sacco Leonardo, Bugiani Orso, Tagliavini Fabrizio

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Source

Identifiers

PMID: 15940384
DOI: 10.1007/s00415-005-0879-8

Genes

MAPT

Variants

Provenance

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Related research

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Research trail→

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Familial frontotemporal dementia associated with the novel MAPT mutation T427M.PMID 15940384Read ↗

A novel MAPT mutation (P301T) associated with familial frontotemporal dementia.Semantic proximity Read ↗

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia.Semantic proximity Read ↗

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.Semantic proximity Read ↗

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.Semantic proximity Read ↗

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.Semantic proximity Read ↗

New MAPT variant in a FTD patient with Alzheimer's disease phenotype at onset.Semantic proximity Read ↗

Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia.Semantic proximity Read ↗

Rapidly Progressive Frontotemporal Dementia Associated with MAPT Mutation G389R.Semantic proximity Read ↗

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.Semantic proximity Read ↗

MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17).Semantic proximity Read ↗

Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.Semantic proximity Read ↗

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.Semantic proximity Read ↗

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