{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:21:09Z","timestamp":1791814869609,"version":"4.3.4"},"reference-count":25,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,9,10]],"date-time":"2013-09-10T00:00:00Z","timestamp":1378771200000},"content-version":"vor","delay-in-days":193,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1016\/j.ajhg.2013.01.011","type":"journal-article","created":{"date-parts":[[2013,2,21]],"date-time":"2013-02-21T19:51:49Z","timestamp":1361476309000},"page":"345-353","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":315,"title":["Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population"],"prefix":"10.1016","volume":"92","author":[{"given":"Jon","family":"Beck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Poulter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davina","family":"Hensman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan\u00a0D.","family":"Rohrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin J.","family":"Mahoney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Adamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Uphill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Borg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Fratta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard\u00a0W.","family":"Orrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Malaspina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hodges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Sidle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James\u00a0M.","family":"Polke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan\u00a0M.","family":"Schott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick\u00a0C.","family":"Fox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin\u00a0N.","family":"Rossor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah\u00a0J.","family":"Tabrizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian\u00a0M.","family":"Isaacs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Warren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Collinge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Mead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.01.011_bib1","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":"10.1016\/j.ajhg.2013.01.011_bib2","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":"10.1016\/j.ajhg.2013.01.011_bib3","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":"10.1016\/j.ajhg.2013.01.011_bib4","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","article-title":"Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study","volume":"11","author":"Majounie","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ajhg.2013.01.011_bib5","first-page":"87","article-title":"The C9ORF72 expansion mutation has a single European founder that arose from a background haplotype associated with repeat instability","volume":"33","author":"Smith","year":"2012","journal-title":"Dement. Geriatr. Cogn. Disord."},{"key":"10.1016\/j.ajhg.2013.01.011_bib6","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1056\/NEJMc1113592","article-title":"Repeat expansion in C9ORF72 in Alzheimer\u2019s disease","volume":"366","author":"Majounie","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2013.01.011_bib7","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/brain\/awr355","article-title":"Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations","volume":"135","author":"Snowden","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2013.01.011_bib8","article-title":"Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease","author":"Lindquist","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2013.01.011_bib9","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1093\/brain\/awr361","article-title":"Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features","volume":"135","author":"Mahoney","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2013.01.011_bib10","doi-asserted-by":"crossref","first-page":"209.e3","DOI":"10.1016\/j.neurobiolaging.2011.08.005","article-title":"Chromosome 9 ALS and FTD locus is probably derived from a single founder","volume":"33","author":"Mok","year":"2012","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.ajhg.2013.01.011_bib11","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/S1474-4422(12)70046-7","article-title":"C9orf72 repeat expansions in patients with ALS and FTD","volume":"11","author":"Rademakers","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ajhg.2013.01.011_bib12","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng917","article-title":"A high-resolution recombination map of the human genome","volume":"31","author":"Kong","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.01.011_bib13","doi-asserted-by":"crossref","first-page":"e2966","DOI":"10.1371\/journal.pone.0002966","article-title":"Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses","volume":"3","author":"Plagnol","year":"2008","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.01.011_bib14","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1038\/labinvest.3700472","article-title":"Clonal evolution of lymphoblastoid cell lines","volume":"86","author":"Ryan","year":"2006","journal-title":"Lab. Invest."},{"key":"10.1016\/j.ajhg.2013.01.011_bib15","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/nature05977","article-title":"Expandable DNA repeats and human disease","volume":"447","author":"Mirkin","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.01.011_bib16","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S1097-2765(00)80474-8","article-title":"Sticky DNA: Self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich\u2019s ataxia","volume":"3","author":"Sakamoto","year":"1999","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2013.01.011_bib17","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.jns.2007.06.021","article-title":"Sports and trauma in amyotrophic lateral sclerosis revisited","volume":"262","author":"Armon","year":"2007","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ajhg.2013.01.011_bib18","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1111\/j.1468-1331.2009.02586.x","article-title":"Incidence and lifetime risk of motor neuron disease in the United Kingdom: A population-based study","volume":"16","author":"Alonso","year":"2009","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ajhg.2013.01.011_bib19","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1212\/01.wnl.0000334277.16896.fa","article-title":"Incidence of early-onset dementias in Cambridgeshire, United Kingdom","volume":"71","author":"Mercy","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2013.01.011_bib20","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1212\/01.WNL.0000106827.39764.7E","article-title":"The incidence of frontotemporal lobar degeneration in Rochester, Minnesota, 1990 through 1994","volume":"62","author":"Knopman","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2013.01.011_bib21","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1136\/jnnp.55.7.536","article-title":"The Scottish Motor Neuron Disease Register: A\u00a0prospective study of adult onset motor neuron disease in Scotland.\u00a0Methodology, demography and clinical features of incident cases in 1989","volume":"55","year":"1992","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.01.011_bib22","doi-asserted-by":"crossref","first-page":"3454","DOI":"10.1093\/brain\/awr248","article-title":"The risk to relatives of patients with sporadic amyotrophic lateral sclerosis","volume":"134","author":"Hanby","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2013.01.011_bib23","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1212\/WNL.0b013e3181bf997a","article-title":"The heritability and genetics of frontotemporal lobar degeneration","volume":"73","author":"Rohrer","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2013.01.011_bib24","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s00439-006-0249-3","article-title":"The GAA triplet-repeat is unstable in the context of the human FXN locus\u00a0and displays age-dependent expansions in cerebellum and\u00a0DRG in a transgenic mouse model","volume":"120","author":"Clark","year":"2007","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.011_bib25","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1001\/archneurol.2012.1219","article-title":"C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan","volume":"69","author":"Ishiura","year":"2012","journal-title":"Arch. Neurol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713000438?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713000438?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T00:34:10Z","timestamp":1562718850000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713000438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["S0002929713000438"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.01.011","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.01.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}