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Article

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.

Acta neuropathologica - 1 Dec 2013

Belzil Veronique V, Bauer Peter O, Prudencio Mercedes, Gendron Tania F, Stetler Caroline T, Yan Irene K, Pregent Luc, Daughrity Lillian, Baker Matthew C, Rademakers Rosa, Boylan Kevin, Patel Tushar C, Dickson Dennis W, Petrucelli Leonard

Abstract excerpt

Individuals carrying (GGGGCC) expanded repeats in the C9orf72 gene represent a significant portion of patients suffering from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Elucidating how these expanded repeats cause "c9FTD/ALS" has since become an important goal of the field. Toward this end, we sought to investigate whether epigenetic changes are responsible for the decrease in C9orf72...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24166615
DOI: 10.1007/s00401-013-1199-1
PMCID: PMC3830740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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