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A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function
Over two dozen mutations in the gene encoding the microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease. The vast majority of these mutations map to the C-terminal region of ta...
Autores principales: | Iyer, Abhinaya, LaPointe, Nichole E., Zielke, Krzysztof, Berdynski, Mariusz, Guzman, Elmer, Barczak, Anna, Chodakowska-Żebrowska, Małgorzata, Barcikowska, Maria, Feinstein, Stuart, Żekanowski, Cezary |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785453/ https://www.ncbi.nlm.nih.gov/pubmed/24086739 http://dx.doi.org/10.1371/journal.pone.0076409 |
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