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

Microtubule-associated protein tau (MAPT) mutations have been shown to underlie frontotemporal dementia and a variety of additional sporadic tauopathies. We identified a rare p.A152T variant in MAPT exon 7 in two (of eight) patients with clinical presentation of parkinsonism and postmortem finding o...

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Detalles Bibliográficos
Autores principales: Kara, Eleanna, Ling, Helen, Pittman, Alan M., Shaw, Karen, de Silva, Rohan, Simone, Roberto, Holton, Janice L., Warren, Jason D., Rohrer, Jonathan D., Xiromerisiou, Georgia, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Genetic Reports Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657164/
https://www.ncbi.nlm.nih.gov/pubmed/22595371
http://dx.doi.org/10.1016/j.neurobiolaging.2012.04.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657164/
https://www.ncbi.nlm.nih.gov/pubmed/22595371
http://dx.doi.org/10.1016/j.neurobiolaging.2012.04.006

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