{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T20:35:38Z","timestamp":1723322138018},"reference-count":40,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2015,5,1]],"date-time":"2015-05-01T00:00:00Z","timestamp":1430438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University College London Hospitals"},{"DOI":"10.13039\/501100003107","name":"Federal Ministry of Health","doi-asserted-by":"crossref","award":["1369-341"],"award-info":[{"award-number":["1369-341"]}],"id":[{"id":"10.13039\/501100003107","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["neurobiologyofaging.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2015,5]]},"DOI":"10.1016\/j.neurobiolaging.2015.01.011","type":"journal-article","created":{"date-parts":[[2015,1,22]],"date-time":"2015-01-22T18:19:17Z","timestamp":1421950757000},"page":"2004.e1-2004.e8","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Rare structural genetic variation in human prion diseases"],"prefix":"10.1016","volume":"36","author":[{"given":"Ana","family":"Lukic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Uphill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig A.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Poulter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Adamson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Hummerich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerome","family":"Whitfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Ponto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inga","family":"Zerr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E.","family":"Lloyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Collinge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Mead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib1","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/mp.2013.59","article-title":"High rate of disease-related copy number variations in childhood onset schizophrenia","volume":"19","author":"Ahn","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib2","doi-asserted-by":"crossref","first-page":"e54454","DOI":"10.1371\/journal.pone.0054454","article-title":"Sod1 deficiency reduces incubation time in mouse models of prion disease","volume":"8","author":"Akhtar","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib3","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1136\/jmg.2008.061804","article-title":"Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease","volume":"45","author":"Beck","year":"2008","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib4","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/0092-8674(93)90360-3","article-title":"Mice devoid of PrP are resistant to scrapie","volume":"73","author":"Bueler","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib5","doi-asserted-by":"crossref","first-page":"13239","DOI":"10.1073\/pnas.95.22.13239","article-title":"Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease","volume":"95","author":"Cervenakova","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib6","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1093\/hmg\/dds476","article-title":"A\u00a0genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk","volume":"22","author":"Chapman","year":"2013","journal-title":"Hum. Mol. Gen."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib7","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1016\/0140-6736(91)93128-V","article-title":"Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease","volume":"337","author":"Collinge","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib8","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1146\/annurev.neuro.24.1.519","article-title":"Prion diseases of humans and animals: their causes and molecular basis","volume":"24","author":"Collinge","year":"2001","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib9","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1016\/S0140-6736(06)68930-7","article-title":"Kuru in the 21st century\u2014an acquired human prion disease with very long incubation periods","volume":"367","author":"Collinge","year":"2006","journal-title":"Lancet"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib10","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nature08979","article-title":"Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls","volume":"464","author":"Craddock","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib11","doi-asserted-by":"crossref","first-page":"e126","DOI":"10.1093\/nar\/gkn556","article-title":"Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms","volume":"36","author":"Diskin","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib12","doi-asserted-by":"crossref","first-page":"9295","DOI":"10.1073\/pnas.151242598","article-title":"Scrapie prion protein accumulation by scrapie-infected neuroblastoma cells abrogated by exposure to a prion protein antibody","volume":"98","author":"Enari","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib13","doi-asserted-by":"crossref","first-page":"e1002334","DOI":"10.1371\/journal.pgen.1002334","article-title":"Relative burden of large CNVs on a range of neurodevelopmental phenotypes","volume":"7","author":"Girirajan","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib14","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng.292","article-title":"15q13.3 microdeletions increase risk of idiopathic generalized epilepsy","volume":"41","author":"Helbig","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib15","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ana.21039","article-title":"Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients","volume":"61","author":"Kay","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib16","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1212\/WNL.0b013e3181f4d832","article-title":"A\u00a0comprehensive analysis of deletions, multiplications, and copy number variations in PARK2","volume":"75","author":"Kay","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib17","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/33416","article-title":"Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism","volume":"392","author":"Kitada","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib18","doi-asserted-by":"crossref","first-page":"11666","DOI":"10.1073\/pnas.1834432100","article-title":"A\u00a0quantitative, highly sensitive cell-based infectivity assay for mouse scrapie prions","volume":"100","author":"Klohn","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib19","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1097\/WAD.0b013e3181ad378c","article-title":"(C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease","volume":"24","author":"Kovacs","year":"2010","journal-title":"Alzheimer Dis. Assoc. Disord."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib20","doi-asserted-by":"crossref","first-page":"6279","DOI":"10.1073\/pnas.101130398","article-title":"Identification of multiple quantitative trait loci linked to prion disease incubation period in mice","volume":"98","author":"Lloyd","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib21","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s10048-009-0219-8","article-title":"A\u00a0copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse","volume":"11","author":"Lloyd","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib22","doi-asserted-by":"crossref","first-page":"e1000383","DOI":"10.1371\/journal.pgen.1000383","article-title":"HECTD2 is associated with susceptibility to mouse and human prion disease","volume":"5","author":"Lloyd","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib23","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.gde.2013.02.012","article-title":"Genetics of prion diseases","volume":"23","author":"Lloyd","year":"2013","journal-title":"Curr. Opin Genet. Dev."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib24","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/humu.21398","article-title":"Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer\/EPICURO study","volume":"32","author":"Marenne","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib25","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1038\/ng.474","article-title":"Microduplications of 16p11.2 are associated with schizophrenia","volume":"41","author":"McCarthy","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib26","doi-asserted-by":"crossref","first-page":"426.e13","DOI":"10.1016\/j.neurobiolaging.2010.10.010","article-title":"Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series","volume":"33","author":"McNaughton","year":"2012","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib27","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1086\/324710","article-title":"Sporadic\u2014but not variant\u2014Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1","volume":"69","author":"Mead","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib28","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1126\/science.1083320","article-title":"Balancing selection at the prion protein gene consistent with prehistoric kuru-like epidemics","volume":"300","author":"Mead","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib29","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/S1474-4422(08)70265-5","article-title":"Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study","volume":"8","author":"Mead","year":"2009","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib30","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1093\/hmg\/ddr607","article-title":"Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP","volume":"21","author":"Mead","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib31","doi-asserted-by":"crossref","first-page":"2056","DOI":"10.1056\/NEJMoa0809716","article-title":"A\u00a0novel protective prion protein variant that colocalizes with kuru exposure","volume":"361","author":"Mead","year":"2009","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib32","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1038\/352340a0","article-title":"Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease","volume":"352","author":"Palmer","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib33","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1093\/brain\/115.3.675","article-title":"Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies","volume":"115","author":"Poulter","year":"1992","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib34","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng1718","article-title":"APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy","volume":"38","author":"Rovelet-Lecruz","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib35","doi-asserted-by":"crossref","first-page":"1487.e21","DOI":"10.1016\/j.neurobiolaging.2011.10.011","article-title":"Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk","volume":"33","author":"Sanchez-Juan","year":"2011","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib36","doi-asserted-by":"crossref","DOI":"10.1002\/0471142735.im1017cs31","article-title":"Rapid production of retroviruses for efficient gene delivery to mammalian cells using 293T cell-based systems","author":"Swift","year":"2001","journal-title":"Curr. Protoc. Immunol."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib37","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data","volume":"17","author":"Wang","year":"2007","journal-title":"Genome Res."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib38","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1097\/NEN.0b013e318182f36e","article-title":"First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation","volume":"67","author":"Webb","year":"2008","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib39","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1056\/NEJMoa075974","article-title":"Association between microdeletion and microduplication at 16p11.2 and autism","volume":"358","author":"Weiss","year":"2008","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2015.01.011_bib40","doi-asserted-by":"crossref","first-page":"2659","DOI":"10.1093\/brain\/awp191","article-title":"Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease","volume":"132","author":"Zerr","year":"2009","journal-title":"Brain"}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458015000445?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458015000445?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T21:46:22Z","timestamp":1589492782000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458015000445"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["S0197458015000445"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2015.01.011","relation":{},"ISSN":["0197-4580"],"issn-type":[{"value":"0197-4580","type":"print"}],"subject":[],"published":{"date-parts":[[2015,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rare structural genetic variation in human prion diseases","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2015.01.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}