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Article

Co-expression of C9orf72 related dipeptide-repeats over 1000 repeat units reveals age- and combination-specific phenotypic profiles in Drosophila.

Acta neuropathologica communications - 7 Sept 2020

West Ryan J H, Sharpe Joanne L, Voelzmann André, Munro Anna L, Hahn Ines, Baines Richard A, Pickering-Brown Stuart

Abstract excerpt

A large intronic hexanucleotide repeat expansion (GGGGCC) within the C9orf72 (C9orf72-SMCR8 Complex Subunit) locus is the most prevalent genetic cause of both Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND). In patients this expansion is typically hundreds to thousands of repeat units in length. Repeat associated non-AUG translation of the expansion leads to the formation of toxic, pathological...

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Identifiers

PMID: 32894207
DOI: 10.1186/s40478-020-01028-y
PMCID: PMC7487709

Provenance

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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