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Article

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.

Human molecular genetics - 1 Sept 2017

Prudencio Mercedes, Gonzales Patrick K, Cook Casey N, Gendron Tania F, Daughrity Lillian M, Song Yuping, Ebbert Mark T W, van Blitterswijk Marka, Zhang Yong-Jie, Jansen-West Karen, Baker Matthew C, DeTure Michael, Rademakers Rosa, Boylan Kevin B, Dickson Dennis W, Petrucelli Leonard, Link Christopher D

Abstract excerpt

Significant transcriptome alterations are detected in the brain of patients with amyotrophic lateral sclerosis (ALS), including carriers of the C9orf72 repeat expansion and C9orf72-negative sporadic cases. Recently, the expression of repetitive element transcripts has been associated with toxicity and, while increased repetitive element expression has been observed in several neurodegenerative diseases, little is...

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Identifiers

PMID: 28637276
DOI: 10.1093/hmg/ddx233
PMCID: PMC5886204

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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