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Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

BACKGROUND: A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Currently, much remains unknown about which variables may modify these...

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Detalles Bibliográficos
Autores principales:	Jackson, Jazmyne L., Finch, NiCole A., Baker, Matthew C., Kachergus, Jennifer M., DeJesus-Hernandez, Mariely, Pereira, Kimberly, Christopher, Elizabeth, Prudencio, Mercedes, Heckman, Michael G., Thompson, E. Aubrey, Dickson, Dennis W., Shah, Jaimin, Oskarsson, Björn, Petrucelli, Leonard, Rademakers, Rosa, van Blitterswijk, Marka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993399/ https://www.ncbi.nlm.nih.gov/pubmed/32000838 http://dx.doi.org/10.1186/s13024-020-0359-8

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