Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.

doi:10.1016/S1474-4422(13)70210-2

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Article

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.

The Lancet. Neurology - 1 Oct 2013

van Blitterswijk Marka, DeJesus-Hernandez Mariely, Niemantsverdriet Ellis, Murray Melissa E, Heckman Michael G, Diehl Nancy N, Brown Patricia H, Baker Matthew C, Finch NiCole A, Bauer Peter O, Serrano Geidy, Beach Thomas G, Josephs Keith A, Knopman David S, Petersen Ronald C, Boeve Bradley F, Graff-Radford Neill R, Boylan Kevin B, Petrucelli Leonard, Dickson Dennis W, Rademakers Rosa

Abstract excerpt

BACKGROUND: Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are the most common known genetic cause of frontotemporal dementia (FTD) and motor neuron disease (MND). We assessed whether expansion size is associated with disease severity or phenotype. METHODS: We did a cross-sectional Southern blot characterisation study (Xpansize-72) in a cohort of individuals with FTD, MND, both...

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PMID: 24011653
DOI: 10.1016/S1474-4422(13)70210-2
PMCID: PMC3879782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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