Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.

doi:10.1016/j.neurobiolaging.2012.07.005

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Article

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.

Neurobiology of aging - 1 Dec 2012

Rutherford Nicola J, Heckman Michael G, Dejesus-Hernandez Mariely, Baker Matt C, Soto-Ortolaza Alexandra I, Rayaprolu Sruti, Stewart Heather, Finger Elizabeth, Volkening Kathryn, Seeley William W, Hatanpaa Kimmo J, Lomen-Hoerth Catherine, Kertesz Andrew, Bigio Eileen H, Lippa Carol, Knopman David S, Kretzschmar Hans A, Neumann Manuela, Caselli Richard J, White Charles L, Mackenzie Ian R, Petersen Ronald C, Strong Michael J, Miller Bruce L, Boeve Bradley F, Uitti Ryan J, Boylan Kevin B, Wszolek Zbigniew K, Graff-Radford Neill R, Dickson Dennis W, Ross Owen A, Rademakers Rosa

Abstract excerpt

Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repea...

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Identifiers

PMID: 22840558
DOI: 10.1016/j.neurobiolaging.2012.07.005
PMCID: PMC3617405

Genes

C9ORF72

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22840558-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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