Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Spina S, Murrell JR, Yoshida H, Ghetti B, Bermingham N, Sweeney B, Dlouhy SR, Crowther RA, Goedert M, Keohane C. The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. Acta neuropathologica 113: 461-470, 2007 (PubMed ID: 17186252)

Mutations

MAPT: (Gly335Ser)

ID: 428

Ghetti B, Spina S, Murrell JR, Huey ED, Pietrini P, Sweeney B, Wassermann EM, Keohane C, Farlow MR, Grafman J. In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17. Neurodegenerative Diseases 5: 215-217, 2008 (PubMed ID: 18322394)

Mutations

GRN: (Ala9Asp) (Ala237fs) (Arg493X)
MAPT: (IVS10+3G>A) (Gly335Ser)

ID: 506


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (428,506)



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