{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:30:34Z","timestamp":1791423034315,"version":"4.3.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T00:00:00Z","timestamp":1333411200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T00:00:00Z","timestamp":1333411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Psychiatry"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1038\/mp.2012.15","type":"journal-article","created":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T08:17:06Z","timestamp":1333441026000},"page":"875-879","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":286,"title":["High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease"],"prefix":"10.1038","volume":"17","author":[{"given":"C","family":"Pottier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Hannequin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Coutant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Rovelet-Lecrux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Wallon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Legallic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Paquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Bombois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Pariente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Thomas-Anterion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Michon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Croisile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Etcharry-Bouyx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Berr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J-F","family":"Dartigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Amouyel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Dauchel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Boutoleau-Bretonni\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Thauvin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Frebourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J-C","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Campion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"PHRC GMAJ Collaborators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,4,3]]},"reference":[{"key":"BFmp201215_CR1","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 et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999; 65: 664\u2013670.","journal-title":"Am J Hum Genet"},{"key":"BFmp201215_CR2","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ng1718","volume":"38","author":"A Rovelet-Lecrux","year":"2006","unstructured":"Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerri\u00e8re A, Vital A et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24\u201326.","journal-title":"Nat Genet"},{"key":"BFmp201215_CR3","doi-asserted-by":"crossref","unstructured":"Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S et al. A genome wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet; advance online publication 14 December 2011 (e-pub ahead of print).","DOI":"10.1038\/ejhg.2011.225"},{"key":"BFmp201215_CR4","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1016\/S1631-0691(02)01476-2","volume":"325","author":"A Alperovitch","year":"2002","unstructured":"Alperovitch A, Amouyel P, Dartigues JF, Ducimeti\u00e8re P, Mazoyer B, Ritchie K et al. [Epidemiological studies on aging in France: from the PAQUID study to the Three-City study]. C R Biol 2002; 325: 665\u2013672.","journal-title":"C R Biol"},{"key":"BFmp201215_CR5","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/ng1943","volume":"39","author":"E Rogaeva","year":"2007","unstructured":"Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007; 39: 168\u2013177.","journal-title":"Nat Genet"},{"key":"BFmp201215_CR6","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1001\/archneurol.2010.346","volume":"68","author":"C Reitz","year":"2011","unstructured":"Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Zou F et al. Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 2011; 68: 99\u2013106.","journal-title":"Arch Neurol"},{"key":"BFmp201215_CR7","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, Rodelsperger C, Schuelke M, Seelow D . MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575\u2013576.","journal-title":"Nat Methods"},{"key":"BFmp201215_CR8","doi-asserted-by":"publisher","first-page":"2618","DOI":"10.1021\/bi052120v","volume":"45","author":"OM Andersen","year":"2006","unstructured":"Andersen OM, Schmidt V, Spoelgen R, Gliemann J, Behlke J, Galatis D et al. Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA\/LR11. Biochemistry 2006; 45: 2618\u20132628.","journal-title":"Biochemistry"},{"key":"BFmp201215_CR9","doi-asserted-by":"publisher","first-page":"2677","DOI":"10.1007\/s00018-009-0043-1","volume":"66","author":"G Hermey","year":"2009","unstructured":"Hermey G . The Vps10p-domain receptor family. Cell Mol Life Sci 2009; 66: 2677\u20132689.","journal-title":"Cell Mol Life Sci"},{"key":"BFmp201215_CR10","doi-asserted-by":"publisher","first-page":"R119","DOI":"10.1093\/hmg\/ddq390","volume":"19","author":"SB Ng","year":"2010","unstructured":"Ng SB, Nickerson DA, Bamshad MJ, Shendure J . Massively parallel sequencing and rare disease. Hum Mol Genet 2010; 19: R119\u2013R124.","journal-title":"Hum Mol Genet"}],"container-title":["Molecular Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/mp201215.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/mp201215","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/mp201215.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T03:34:57Z","timestamp":1648784097000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/mp201215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,3]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["BFmp201215"],"URL":"https:\/\/doi.org\/10.1038\/mp.2012.15","relation":{},"ISSN":["1359-4184","1476-5578"],"issn-type":[{"value":"1359-4184","type":"print"},{"value":"1476-5578","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,3]]},"assertion":[{"value":"1 February 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 February 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 April 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}