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Article

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

Neurology - 4 Sept 2012

Dobson-Stone Carol, Hallupp Marianne, Bartley Lauren, Shepherd Claire E, Halliday Glenda M, Schofield Peter R, Hodges John R, Kwok John B J

Abstract excerpt

OBJECTIVE: To determine the frequency of a hexanucleotide repeat expansion in C9ORF72, a gene of unknown function implicated in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), in Australian FTD patient cohorts and to examine the clinical and neuropathologic phenotypes associated with this expansion. METHODS: We examined a clinically ascertained FTD cohort (n = 89) and a neuropathologically...

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Identifiers

PMID: 22875086
DOI: 10.1212/WNL.0b013e3182684634
PMCID: PMC3430710

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