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Article

Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease.

Acta neuropathologica - 1 Feb 2014

Rönnbäck Annica, Nennesmo Inger, Tuominen Hannu, Grueninger Fiona, Viitanen Matti, Graff Caroline

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24337498
DOI: 10.1007/s00401-013-1229-z

Genes

MAPT

Variants

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Related research

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Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease.PMID 24337498Read ↗

MAPT S305I mutation: implications for argyrophilic grain disease.Semantic proximity Read ↗

Neuropathology in the S305S tau gene mutation.Semantic proximity Read ↗

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

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 ↗

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia.Semantic proximity Read ↗

Tau protein mutation P364S in two sisters: clinical course and neuropathology with emphasis on new, composite neuronal tau inclusions.Semantic proximity Read ↗

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

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

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.Semantic proximity Read ↗

Slowly progressive behavioural presentation in two UK cases with the R406W MAPT mutation.Semantic proximity Read ↗

MAPT Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family.Semantic proximity Read ↗

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