{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T03:12:38Z","timestamp":1764645158666},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,6,15]],"date-time":"2012-06-15T00:00:00Z","timestamp":1339718400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1186\/1471-2377-12-38","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T13:45:54Z","timestamp":1340804754000},"source":"Crossref","is-referenced-by-count":4,"title":["Phenotypical difference of Amyloid Precursor Protein (APP) V717L mutation in Japanese family"],"prefix":"10.1186","volume":"12","author":[{"given":"Masao","family":"Abe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Sonobe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuji","family":"Fukuhara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichiro","family":"Ochi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teruhisa","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takaaki","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Tanimukai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-ichi","family":"Ueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,6,15]]},"reference":[{"key":"623_CR1","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1038\/ng1009-1047","volume":"41","author":"MA van Es","year":"1047","unstructured":"van Es MA, van den Berg LH: Two genome-wide association studies together report three new susceptibility loci for late-onset Alzheimer\u2019s disease. CLU, PICALM and CR1 may be involved in amyloid-\u03b2 clearance from the brain. Nat Genet. 1047, 41: 1047-1048.","journal-title":"Nat Genet"},{"key":"623_CR2","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1212\/WNL.34.7.939","volume":"34","author":"G McKhann","year":"1984","unstructured":"McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM: Clinical diagnosis of Alzheimer\u2019s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer\u2019s Disease. Neurology. 1984, 34: 939-944. 10.1212\/WNL.34.7.939.","journal-title":"Neurology"},{"key":"623_CR3","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1001\/archneur.57.6.885","volume":"57","author":"JR Murrell","year":"2000","unstructured":"Murrell JR, Hake AM, Quaid KA, Farlow MR, Ghetti B: Early-Onset Alzheimer Disease Caused by a New Mutation (V717L) in the Amyloid Precursor Protein Gene. Arch Neurol. 2000, 57: 885-887. 10.1001\/archneur.57.6.885.","journal-title":"Arch Neurol"},{"key":"623_CR4","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1093\/hmg\/10.16.1665","volume":"10","author":"C De Jonghe","year":"2001","unstructured":"De Jonghe C, Esselens C, Kumar-Singh S, Craessaerts K, Serneels S, Annaert FCW, Van Broeckhoven C, De Strooper B: Pathogenic APP mutations near the \u03b3-secretase cleavage site differentially affect A\u03b2 secretion and APP C-terminal fragment stability. Hum Mol Genet. 2001, 10: 1665-1671. 10.1093\/hmg\/10.16.1665.","journal-title":"Hum Mol Genet"},{"key":"623_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/alzrt24","volume":"2","author":"N Ertekin-Taner","year":"2010","unstructured":"Ertekin-Taner N: Genetics of Alzheimer disease in the pre- and post-GWAS era. Alzheimer\u2019s Research & Therapy. 2010, 2: 1-12.","journal-title":"Alzheimer\u2019s Research & Therapy"},{"key":"623_CR6","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1126\/science.1132814","volume":"314","author":"Goedert Spillantini","year":"2006","unstructured":"Goedert Spillantini : A Century of Alzheimer\u2019s Disease. Science. 2006, 314: 777-10.1126\/science.1132814.","journal-title":"Science"},{"key":"623_CR7","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/s10048-005-0211-x","volume":"6","author":"U Finckh","year":"2005","unstructured":"Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A: Novel mutations and repeated findings of mutations in familial Alzheimer disease. Neurogenetics. 2005, 6: 85-89. 10.1007\/s10048-005-0211-x.","journal-title":"Neurogenetics"},{"key":"623_CR8","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1086\/302553","volume":"65","author":"D Campion","year":"1999","unstructured":"Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T: Early-onset, autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity and mutation spectrum. Am J Hum Genet. 1999, 65: 664-670. 10.1086\/302553.","journal-title":"Am J Hum Genet"},{"key":"623_CR9","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1086\/302702","volume":"66","author":"U Finckh","year":"2000","unstructured":"Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet. 2000, 66: 110-117. 10.1086\/302702.","journal-title":"Am J Hum Genet"},{"key":"623_CR10","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1016\/0140-6736(91)91612-X","volume":"337","author":"S Naruse","year":"1991","unstructured":"Naruse S, Igarashi S, Kobayashi H, Aoki K, Inuzuka T, Kaneko K, Shimizu T, Iihara K, Kojima T, Miyatake T, et al: Missense mutation Val-Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer\u2019s disease. Lancet. 1991, 337: 978-979.","journal-title":"Lancet"},{"key":"623_CR11","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1212\/01.WNL.0000197791.53828.2C","volume":"66","author":"AK Godbolt","year":"2006","unstructured":"Godbolt AK, Beck JA, Collinge JC, Cipolotti L, Fox NC, Rossor MN: A second family with familial AD and the V717L APP mutation has a later age at onset. Neurology. 2006, 66: 611-612. 10.1212\/01.WNL.0000197791.53828.2C.","journal-title":"Neurology"},{"key":"623_CR12","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0022-2275(20)43176-1","volume":"31","author":"JE Hixson","year":"1990","unstructured":"Hixson JE, Vernier DT: Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res. 1990, 31: 545-548.","journal-title":"J Lipid Res"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2377-12-38.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2377-12-38\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2377-12-38","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T16:42:08Z","timestamp":1642610528000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/1471-2377-12-38"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,15]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["623"],"URL":"https:\/\/doi.org\/10.1186\/1471-2377-12-38","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,15]]},"article-number":"38"}}