Article

Repeat length increases disease penetrance and severity in <i>C9orf72</i> ALS/FTD BAC transgenic mice

2020-05-22

Abstract excerpt

C9orf72 ALS/FTD patients show remarkable clinical heterogeneity, but the complex biology of the repeat expansion mutation has limited our understanding of the disease. BAC transgenic mice were used to better understand the molecular mechanisms and repeat length effects of C9orf72 ALS/FTD. Genetic analyses of these mice demonstrate that the BAC transgene and not integration site effects cause ALS/FTD phenotypes. Tr...

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Literature Corpus work: 407896de-da9a-5cae-8a71-7d2ad5b5332a
DOI: 10.1101/2020.05.21.107425

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