TY - JOUR AU - Jackson, Jazmyne L. AU - Finch, NiCole A. AU - Baker, Matthew C. AU - Kachergus, Jennifer M. AU - DeJesus-Hernandez, Mariely AU - Pereira, Kimberly AU - Christopher, Elizabeth AU - Prudencio, Mercedes AU - Heckman, Michael G. AU - Thompson, E. Aubrey AU - Dickson, Dennis W. AU - Shah, Jaimin AU - Oskarsson, Björn AU - Petrucelli, Leonard AU - Rademakers, Rosa AU - van Blitterswijk, Marka PY - 2020 DA - 2020/01/30 TI - Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers JO - Molecular Neurodegeneration SP - 7 VL - 15 IS - 1 AB - 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 diseases. We sought to investigate associations between C9orf72 promoter methylation, RNA expression levels, and repeat length, their potential effects on disease features, as well as changes over time and within families. SN - 1750-1326 UR - https://doi.org/10.1186/s13024-020-0359-8 DO - 10.1186/s13024-020-0359-8 ID - Jackson2020 ER -