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Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome

BACKGROUND: MAPT mutations are associated with disorders within the frontotemporal lobar degeneration spectrum. The usual presenting syndrome is behavioural variant frontotemporal dementia, although some patients present with parkinsonism. In a number of these cases the dominant clinical features ha...

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Detalhes bibliográficos
Main Authors: Rohrer, Jonathan D., Paviour, Dominic, Vandrovcova, Jana, Hodges, John, de Silva, Rohan, Rossor, Martin N.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3078284/
https://ncbi.nlm.nih.gov/pubmed/20838030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000319454
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