{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T10:03:36Z","timestamp":1781777016046,"version":"3.54.5"},"reference-count":24,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T00:00:00Z","timestamp":1400457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100002283","name":"Alzheimer's Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]},{"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\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Trust\/MRC Joint Call in Neurodegeneration","award":["WT089698"],"award-info":[{"award-number":["WT089698"]}]},{"name":"UK Parkinson's Disease Consortium","award":["P50 AG016574"],"award-info":[{"award-number":["P50 AG016574"]}]},{"name":"UK Parkinson's Disease Consortium","award":["U01 AG006786"],"award-info":[{"award-number":["U01 AG006786"]}]},{"name":"UK Parkinson's Disease Consortium","award":["R01 AG18023"],"award-info":[{"award-number":["R01 AG18023"]}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Biomedical Research Unit in Dementia at University College London Hospitals"},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institutes of Health Research"},{"name":"Wellcome Trust Medical Research Council"},{"name":"Fondation pour la Recherche sur Alzheimer"},{"name":"Big Lottery"},{"DOI":"10.13039\/501100000319","name":"ARUK","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000319","id-type":"DOI","asserted-by":"crossref"}]},{"name":"ABBUK Ltd"}],"content-domain":{"domain":["neurobiologyofaging.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1016\/j.neurobiolaging.2014.04.026","type":"journal-article","created":{"date-parts":[[2014,5,2]],"date-time":"2014-05-02T06:01:13Z","timestamp":1399010473000},"page":"2422.e13-2422.e16","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease"],"prefix":"10.1016","volume":"35","author":[{"given":"Celeste","family":"Sassi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Guerreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinhui","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle K.","family":"Lupton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Troakes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Lunnon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safa","family":"Al-Sarraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristelle S.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirstopher","family":"Medway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Turton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Snowden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Neary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeniffer","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Bras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"Powell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Singleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib1","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1093\/hmg\/4.12.2373","article-title":"Mutations of the presenilin I gene in families with early-onset Alzheimer's disease","volume":"4","author":"Campion","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib2","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1093\/hmg\/10.16.1665","article-title":"Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability","volume":"10","author":"De Jonghe","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib3","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1001\/archneur.57.4.485","article-title":"A\u00a0novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease","volume":"57","author":"Ezquerra","year":"2000","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib4","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/349704a0","article-title":"Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease","volume":"349","author":"Goate","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib5","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.neurobiolaging.2008.06.012","article-title":"Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP","volume":"31","author":"Guerreiro","year":"2010","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib6","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1468-1331.2007.01857.x","article-title":"A\u00a0novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease","volume":"14","author":"Knight","year":"2007","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib7","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib8","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib9","doi-asserted-by":"crossref","first-page":"8025","DOI":"10.1073\/pnas.112686799","article-title":"Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production","volume":"99","author":"Moehlmann","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib10","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1001\/archneur.57.6.885","article-title":"Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene","volume":"57","author":"Murrell","year":"2000","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib11","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s10072-005-0499-1","article-title":"A\u00a0novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease","volume":"26","author":"Pantieri","year":"2005","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib12","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s11920-004-0052-6","article-title":"Molecular genetics of Alzheimer's disease","volume":"6","author":"Pastor","year":"2004","journal-title":"Curr. Psychiatry Rep."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib13","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1136\/jmg.2005.033456","article-title":"Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update","volume":"42","author":"Raux","year":"2005","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib14","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/375754a0","article-title":"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease","volume":"375","author":"Sherrington","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib15","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1086\/301672","article-title":"A\u00a0presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease","volume":"62","author":"Tysoe","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib16","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3233\/JAD-2012-120172","article-title":"The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers","volume":"30","author":"Wallon","year":"2012","journal-title":"J.\u00a0Alzheimers Dis."},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib1000","author":"1000 Genomes"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib18","author":"dbSNP"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib19","author":"ESP"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib20","author":"Molgen"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib21","author":"Picard"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib22","author":"Polyphen 2"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib23","author":"SeattleSeq"},{"key":"10.1016\/j.neurobiolaging.2014.04.026_bib24","author":"SIFT"}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458014003285?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458014003285?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T22:47:09Z","timestamp":1589237229000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458014003285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":24,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["S0197458014003285"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2014.04.026","relation":{},"ISSN":["0197-4580"],"issn-type":[{"value":"0197-4580","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2014.04.026","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}