{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:30:54Z","timestamp":1759336254753},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2138,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In early\u2010onset familial Alzheimer's disease pathogenic mutations have been found in the amyloid precur sor protein (APP) gene and in the presenilin (PS)\u20101 and PS\u20102 genes. We screened for mutations in these genes in 20 patients with familial AD from the Finnish population. In addition, we sampled 41 sporadic AD patients and 59 controls to test for mutations identified in our familial AD cases. We detected an A\u2010to\u2010G transition in the PS\u20101 gene, resulting in a glutamic acid (G1u)\u2010to\u2010 glycine (Gly) substitution at codon 318 in 2 familial and 2 sporadic AD patients. The Glu318Gly mutation has previously been reported to cause AD. We also found the Glu318Gly mutation in 4 healthy aged controls (range, 74\u201387 years). We thus conclude that the mutation is most likely a rare polymorphism not related to AD.<\/jats:p>","DOI":"10.1002\/ana.410440617","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:27:51Z","timestamp":1104589671000},"page":"965-967","source":"Crossref","is-referenced-by-count":33,"title":["The Glu318Gly mutation of the presenilin\u20101 gene does not necessarily cause Alzheimer's disease"],"prefix":"10.1002","volume":"44","author":[{"given":"Kari M.","family":"Mattila","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Forsell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuula","family":"Pirttila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juha O.","family":"Rinne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terho","family":"Lehtimaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matias","family":"Roytta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lena","family":"Lilius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Eerola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H. St","family":"George\u2010Hyslop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Frey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Lannfelt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(96)01030-2"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03540340059034"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1411576"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.7.939"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-219"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(94)11176-J"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90130-9"},{"key":"e_1_2_1_13_2","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0022-2275(20)43176-1","article-title":"Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI","volume":"31","author":"Hixon JE","year":"1990","journal-title":"J Lipid Res"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400225"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(97)00603-4"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.1.43"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410440617","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410440617","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T22:12:43Z","timestamp":1698531163000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410440617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1998,12]]}},"alternative-id":["10.1002\/ana.410440617"],"URL":"https:\/\/doi.org\/10.1002\/ana.410440617","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,12]]}}}