{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:49:18Z","timestamp":1789642158859,"version":"4.0.0"},"reference-count":27,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> The aim of the study was to assess the theory of haploinsufficiency in <i>C9ORF72<\/i> expansion carriers, the most frequent causative gene of frontotemporal dementia. <b><i>Methods:<\/i><\/b> Plasmatic concentrations of C9orf72 protein were measured in 33 patients suspected of familial frontotemporal dementia using an enzyme-linked immunosorbent assay. <b><i>Results:<\/i><\/b> No difference was observed between <i>C9ORF72<\/i> expansion carriers (21.2% of patients) and noncarriers (78.8% of patients). C9orf72 protein determination is not a suitable biomarker for screening <i>C9ORF72<\/i> expansion carriers. <b><i>Conclusion:<\/i><\/b> Our results provide new evidence against the hypothesis of haploinsufficiency leading to frontotemporal dementia in <i>C9ORF72<\/i> expansion carriers.<\/jats:p>","DOI":"10.1159\/000492963","type":"journal-article","created":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T21:02:29Z","timestamp":1538082149000},"page":"180-185","source":"Crossref","is-referenced-by-count":1,"title":["C9orf72 Protein Plasmatic Concentrations Are Similar between <b><i>C9ORF72<\/i><\/b> Expansion Carriers and Noncarriers in Frontotemporal 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