{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T16:02:18Z","timestamp":1759939338409},"reference-count":18,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000061","name":"Fogarty International Center","doi-asserted-by":"crossref","award":["R25 TW009345"],"award-info":[{"award-number":["R25 TW009345"]}],"id":[{"id":"10.13039\/100000061","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH Office of the Director Office of Research on Women's Health and the Office of AIDS Research"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience Letters"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.neulet.2014.01.016","type":"journal-article","created":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T02:00:24Z","timestamp":1391392824000},"page":"140-143","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease"],"prefix":"10.1016","volume":"563","author":[{"given":"Mario R.","family":"Cornejo-Olivas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-En","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Mazzetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio F.","family":"Mata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Meza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saul","family":"Lindo-Samanamud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James B.","family":"Leverenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neulet.2014.01.016_bib0005","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/S1474-4422(12)70259-4","article-title":"Genetic insights in Alzheimer's disease","volume":"12","author":"Bettens","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0010","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1177\/0891988710383571","article-title":"Genetics of Alzheimer disease","volume":"23","author":"Bekris","year":"2010","journal-title":"J. Geriatr. Psychiatry Neurol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0015","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/WNN.0b013e318145a8c8","article-title":"The genetics of very early onset Alzheimer disease","volume":"20","author":"Filley","year":"2007","journal-title":"Cogn. Behav. Neurol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0020","doi-asserted-by":"crossref","first-page":"21236","DOI":"10.1073\/pnas.1016284108","article-title":"And four equals one: presenilin takes the gamma-secretase role by itself","volume":"107","author":"Lessard","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.neulet.2014.01.016_bib0025","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s00401-012-0996-2","article-title":"The genetics and neuropathology of Alzheimer's disease","volume":"124","author":"Schellenberg","year":"2012","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0030","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1212\/WNL.0b013e3181d52785","article-title":"Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation","volume":"74","author":"Bruni","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.neulet.2014.01.016_bib0035","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1001\/archneur.59.11.1759","article-title":"Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain","volume":"59","author":"Lleo","year":"2002","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0040","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/s10048-006-0043-3","article-title":"Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families","volume":"7","author":"Yescas","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.neulet.2014.01.016_bib0045","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/1096-8628(20011001)103:2<138::AID-AJMG1529>3.0.CO;2-8","article-title":"Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia","volume":"103","author":"Arango","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neulet.2014.01.016_bib0050","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1093\/arclin\/acq098","article-title":"Spanish multicenter normative studies (Neuronorma project): norms for the abbreviated Barcelona Test","volume":"26","author":"Quintana","year":"2011","journal-title":"Arch. Clin. Neuropsychol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0055","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen","year":"2000","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0060","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.fsigen.2013.05.012","article-title":"Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians","volume":"7","author":"Heinz","year":"2013","journal-title":"Forensic Sci. Int. Genet."},{"key":"10.1016\/j.neulet.2014.01.016_bib0065","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/1098-1004(200007)16:1<95::AID-HUMU28>3.0.CO;2-H","article-title":"A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease","volume":"16","author":"Raux","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neulet.2014.01.016_bib0070","doi-asserted-by":"crossref","first-page":"11606","DOI":"10.1523\/JNEUROSCI.0954-13.2013","article-title":"Trans-dominant negative effects of pathogenic PSEN1 mutations on gamma-secretase activity and Abeta production","volume":"33","author":"Heilig","year":"2013","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neulet.2014.01.016_bib0075","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1212\/01.WNL.0000042088.22694.E3","article-title":"Early onset familial Alzheimer's disease: mutation frequency in 31 families","volume":"60","author":"Janssen","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.neulet.2014.01.016_bib0080","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1001\/archneur.58.6.953","article-title":"Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation","volume":"58","author":"Janssen","year":"2001","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neulet.2014.01.016_bib0085","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. Med. Genet."},{"key":"10.1016\/j.neulet.2014.01.016_bib0090","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.0.CO;2-H","article-title":"E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles","volume":"10","author":"Lendon","year":"1997","journal-title":"Hum. Mutat."}],"container-title":["Neuroscience Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394014000433?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394014000433?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T18:55:38Z","timestamp":1538852138000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0304394014000433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":18,"alternative-id":["S0304394014000433"],"URL":"https:\/\/doi.org\/10.1016\/j.neulet.2014.01.016","relation":{},"ISSN":["0304-3940"],"issn-type":[{"value":"0304-3940","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease","name":"articletitle","label":"Article Title"},{"value":"Neuroscience Letters","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neulet.2014.01.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}