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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
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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