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- W1978369284 abstract "Background The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) [1,2]. The mechanism by which the G4C2 intronic repeats cause neurodegeneration is unknown. Decreased tissue levels of the C9ORF72 transcript implicate a loss of protein function due to haploinsufficiency, intranuclear neuronal RNA foci have been observed in ALS and FTD tissues, suggesting that G4C2 RNA may be toxic [1]." @default.
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- W1978369284 date "2013-09-01" @default.
- W1978369284 modified "2023-09-23" @default.
- W1978369284 title "Expanded G4C2 repeats linked to C9ORF72ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic" @default.
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- W1978369284 doi "https://doi.org/10.1186/1750-1326-8-s1-o14" @default.
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