{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:20:56Z","timestamp":1792700456811,"version":"4.5.0"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,6,1]]},"DOI":"10.1093\/hmg\/ddv064","type":"journal-article","created":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T11:28:56Z","timestamp":1424950136000},"page":"3133-3142","source":"Crossref","is-referenced-by-count":118,"title":["Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD"],"prefix":"10.1093","volume":"24","author":[{"given":"Angelica","family":"Nordin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chizuru","family":"Akimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Wuolikainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Alstermark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e4r","family":"Jonsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Birve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan L.","family":"Marklund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin S.","family":"Graffmo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Forsberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Br\u00e4nnstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,2,23]]},"reference":[{"issue":"(Pt B)","key":"key\n\t\t\t\t20170503080307_DDV064C1","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.expneurol.2014.06.001","article-title":"Pathogenesis\/genetics of frontotemporal dementia and how it relates to ALS","volume":"262","author":"Bennion Callister","year":"2014","journal-title":"Exp. Neurol."},{"key":"key\n\t\t\t\t20170503080307_DDV064C2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170503080307_DDV064C3","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170503080307_DDV064C4","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1093\/bioinformatics\/bts725","article-title":"The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs","volume":"29","author":"Levine","year":"2013","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170503080307_DDV064C5","doi-asserted-by":"crossref","first-page":"283","DOI":"10.3389\/fgene.2012.00283","article-title":"Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease","volume":"3","author":"Zhang","year":"2012","journal-title":"Front. Genet."},{"key":"key\n\t\t\t\t20170503080307_DDV064C6","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1093\/hmg\/ddu068","article-title":"C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking","volume":"23","author":"Farg","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503080307_DDV064C7","doi-asserted-by":"crossref","first-page":"148","DOI":"10.3109\/21678421.2013.838586","article-title":"Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis","volume":"15","author":"Byrne","year":"2013","journal-title":"Amyotroph. Lateral Scler. Frontotemporal Degener."},{"key":"key\n\t\t\t\t20170503080307_DDV064C8","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S1474-4422(11)70261-7","article-title":"A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study","volume":"11","author":"Gijselinck","year":"2012","journal-title":"Lancet Neurol."},{"key":"key\n\t\t\t\t20170503080307_DDV064C9","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1212\/01.wnl.0000435295.41974.2e","article-title":"C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles","volume":"81","author":"Cooper-Knock","year":"2013","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170503080307_DDV064C10","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1093\/brain\/awu120","article-title":"Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions","volume":"137","author":"Cooper-Knock","year":"2014","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170503080307_DDV064C11","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.celrep.2013.10.049","article-title":"Hexanucleotide repeats in ALS\/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic","volume":"5","author":"Lee","year":"2013","journal-title":"Cell Rep."},{"key":"key\n\t\t\t\t20170503080307_DDV064C12","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.neuron.2013.02.004","article-title":"Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD\/ALS","volume":"77","author":"Ash","year":"2013","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170503080307_DDV064C13","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1126\/science.1232927","article-title":"The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD\/ALS","volume":"339","author":"Mori","year":"2013","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503080307_DDV064C14","doi-asserted-by":"crossref","first-page":"E4968","DOI":"10.1073\/pnas.1315438110","article-title":"RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia","volume":"110","author":"Zu","year":"2013","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503080307_DDV064C15","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1136\/jmedgenet-2014-102360","article-title":"A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories","volume":"51","author":"Akimoto","year":"2014","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503080307_DDV064C16","doi-asserted-by":"crossref","first-page":"e56899","DOI":"10.1371\/journal.pone.0056899","article-title":"C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients","volume":"8","author":"Dobson-Stone","year":"2013","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503080307_DDV064C17","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/S1474-4422(13)70210-2","article-title":"Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study","volume":"12","author":"van Blitterswijk","year":"2013","journal-title":"Lancet Neurol."},{"key":"key\n\t\t\t\t20170503080307_DDV064C18","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1093\/hmg\/ddt460","article-title":"Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"23","author":"Dols-Icardo","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503080307_DDV064C19","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ajhg.2013.01.011","article-title":"Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population","volume":"92","author":"Beck","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080307_DDV064C20","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/cem.1006","article-title":"OPLS discriminant analysis: combining the strengths of PLS-DA and SIMCA classification","volume":"20","author":"Bylesj\u00f6","year":"2006","journal-title":"J. Chemometrics"},{"key":"key\n\t\t\t\t20170503080307_DDV064C21","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1177\/154405910508400901","article-title":"Fiber-type composition of the human jaw muscles--(part 1) origin and functional significance of fiber-type diversity","volume":"84","author":"Korfage","year":"2005","journal-title":"J. Dent. Res."},{"key":"key\n\t\t\t\t20170503080307_DDV064C22","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1177\/154405910508400902","article-title":"Fiber-type composition of the human jaw muscles--(part 2) role of hybrid fibers and factors responsible for inter-individual variation","volume":"84","author":"Korfage","year":"2005","journal-title":"J. Dent. Res."},{"key":"key\n\t\t\t\t20170503080307_DDV064C23","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.acthis.2007.08.004","article-title":"Muscle development: forming the head and trunk muscles","volume":"110","author":"Shih","year":"2008","journal-title":"Acta Histochem."},{"key":"key\n\t\t\t\t20170503080307_DDV064C24","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/nrg1689","article-title":"Repeat instability: mechanisms of dynamic mutations","volume":"6","author":"Pearson","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170503080307_DDV064C25","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1326-8-12","article-title":"Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation","volume":"8","author":"Buchman","year":"2013","journal-title":"Mol. Neurodegener."},{"key":"key\n\t\t\t\t20170503080307_DDV064C26","first-page":"546.e451","article-title":"Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion","volume":"36","author":"Fratta","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"key\n\t\t\t\t20170503080307_DDV064C27","doi-asserted-by":"crossref","first-page":"1237758","DOI":"10.1126\/science.1237758","article-title":"Somatic mutation, genomic variation, and neurological disease","volume":"341","author":"Poduri","year":"2013","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503080307_DDV064C28","doi-asserted-by":"crossref","first-page":"e70007","DOI":"10.1371\/journal.pone.0070007","article-title":"Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?","volume":"8","author":"Pamphlett","year":"2013","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503080307_DDV064C29","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/j.1468-1331.2011.03501.x","article-title":"EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force","volume":"19","author":"Andersen","year":"2012","journal-title":"Eur. J. Neurol."},{"key":"key\n\t\t\t\t20170503080307_DDV064C30","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1212\/WNL.51.6.1546","article-title":"Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria","volume":"51","author":"Neary","year":"1998","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170503080307_DDV064C31","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/0169-7439(87)80084-9","article-title":"Principal component analysis","volume":"2","author":"Wold","year":"1987","journal-title":"Chemometr. Intell. Lab."},{"key":"key\n\t\t\t\t20170503080307_DDV064C32","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/cem.695","article-title":"Orthogonal projections to latent structures (O-PLS)","volume":"16","author":"Trygg","year":"2002","journal-title":"J. Chemometrics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/24\/11\/3133\/14143392\/ddv064.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T11:16:06Z","timestamp":1503486966000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddv064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,23]]},"references-count":32,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2015,2,23]]},"published-print":{"date-parts":[[2015,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddv064","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2,23]]}}}