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Article

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.

Acta neuropathologica - 1 Sept 2013

Almeida Sandra, Gascon Eduardo, Tran Hélène, Chou Hsin Jung, Gendron Tania F, Degroot Steven, Tapper Andrew R, Sellier Chantal, Charlet-Berguerand Nicolas, Karydas Anna, Seeley William W, Boxer Adam L, Petrucelli Leonard, Miller Bruce L, Gao Fen-Biao

Abstract excerpt

The recently identified GGGGCC repeat expansion in the noncoding region of C9ORF72 is the most common pathogenic mutation in patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). We generated a human neuronal model and investigated the pathological phenotypes of human neurons containing GGGGCC repeat expansions. Skin biopsies were obtained from two subjects who had >1,000 GGGGCC...

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PMID: 23836290
DOI: 10.1007/s00401-013-1149-y
PMCID: PMC3753484

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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