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Article

Screening for C9ORF72 repeat expansion in FTLD.

Neurobiology of aging - 1 Aug 2012

Ferrari Raffaele, Mok Kin, Moreno Jorge H, Cosentino Stephanie, Goldman Jill, Pietrini Pietro, Mayeux Richard, Tierney Michael C, Kapogiannis Dimitrios, Jicha Gregory A, Murrell Jill R, Ghetti Bernardino, Wassermann Eric M, Grafman Jordan, Hardy John, Huey Edward D, Momeni Parastoo

Abstract excerpt

In the present study we aimed to determine the prevalence of C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral sclerosis [ALS]) out of 53 patients and 1 neurologically normal...

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PMID: 22459598
DOI: 10.1016/j.neurobiolaging.2012.02.017
PMCID: PMC3743244

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

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