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Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers
The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of frontotemporal lobar degeneration (FTLD) and motor neuron disea...
Autores principales: | Dickson, Dennis W., Baker, Matthew C., Jackson, Jazmyne L., DeJesus-Hernandez, Mariely, Finch, NiCole A., Tian, Shulan, Heckman, Michael G., Pottier, Cyril, Gendron, Tania F., Murray, Melissa E., Ren, Yingxue, Reddy, Joseph S., Graff-Radford, Neill R., Boeve, Bradley F., Petersen, Ronald C., Knopman, David S., Josephs, Keith A., Petrucelli, Leonard, Oskarsson, Björn, Sheppard, John W., Asmann, Yan W., Rademakers, Rosa, van Blitterswijk, Marka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6781370/ https://www.ncbi.nlm.nih.gov/pubmed/31594549 http://dx.doi.org/10.1186/s40478-019-0797-0 |
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