Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.
Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L.
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Acta Neuropathol. 2013 Dec;126(6):895-905. doi: 10.1007/s00401-013-1199-1. Epub 2013 Oct 29.
Acta Neuropathol. 2013.
PMID: 24166615
Free PMC article.