{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T23:07:57Z","timestamp":1776899277867,"version":"3.51.2"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T00:00:00Z","timestamp":1493251200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["305299"],"award-info":[{"award-number":["305299"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002749","name":"BELSPO","doi-asserted-by":"crossref","award":["NeuroBrainNet"],"award-info":[{"award-number":["NeuroBrainNet"]}],"id":[{"id":"10.13039\/501100002749","id-type":"DOI","asserted-by":"crossref"}]},{"name":"SAO-FRA","award":["S16031"],"award-info":[{"award-number":["S16031"]}]},{"name":"SAO-FRA","award":["S13023"],"award-info":[{"award-number":["S13023"]}]},{"name":"Flemish Government initiated Flanders Impulse Program on Networks for Dementia Research","award":["VIND"],"award-info":[{"award-number":["VIND"]}]},{"name":"Flemish Government Initiated Methusalem Excellence Program"},{"name":"FWO","award":["1S44216N"],"award-info":[{"award-number":["1S44216N"]}]},{"name":"VIB","award":["Technology Fund"],"award-info":[{"award-number":["Technology Fund"]}]},{"name":"University of Antwerp Research Fund"},{"DOI":"10.13039\/100012331","name":"VLAIO","doi-asserted-by":"crossref","award":["Hermesfonds"],"award-info":[{"award-number":["Hermesfonds"]}],"id":[{"id":"10.13039\/100012331","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["2014SGR-0235"],"award-info":[{"award-number":["2014SGR-0235"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI12\/01311"],"award-info":[{"award-number":["PI12\/01311"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Ministry of Economy and Competitiveness ISCIII","award":["PI14\/00282"],"award-info":[{"award-number":["PI14\/00282"]}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Italian Ministry of Health","award":["RF-2010-2319722"],"award-info":[{"award-number":["RF-2010-2319722"]}]},{"DOI":"10.13039\/100007387","name":"Fondazione Cassa di Risparmio di Pistoia e Pescia","doi-asserted-by":"publisher","award":["2014.0365"],"award-info":[{"award-number":["2014.0365"]}],"id":[{"id":"10.13039\/100007387","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Italian Ministry of Health","award":["Ricerca Corrente"],"award-info":[{"award-number":["Ricerca Corrente"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1007\/s00401-017-1714-x","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T02:28:10Z","timestamp":1493260090000},"page":"475-487","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":67,"title":["Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer\u2019s disease"],"prefix":"10.1007","volume":"134","author":[{"name":"On behalf of the European Early-Onset Dementia (EU EOD) consortium","sequence":"first","affiliation":[]},{"given":"Arne","family":"De Roeck","sequence":"first","affiliation":[]},{"given":"Tobi","family":"Van den Bossche","sequence":"additional","affiliation":[]},{"given":"Julie","family":"van der Zee","sequence":"additional","affiliation":[]},{"given":"Jan","family":"Verheijen","sequence":"additional","affiliation":[]},{"given":"Wouter","family":"De Coster","sequence":"additional","affiliation":[]},{"given":"Jasper","family":"Van Dongen","sequence":"additional","affiliation":[]},{"given":"Lubina","family":"Dillen","sequence":"additional","affiliation":[]},{"given":"Yalda","family":"Baradaran-Heravi","sequence":"additional","affiliation":[]},{"given":"Bavo","family":"Heeman","sequence":"additional","affiliation":[]},{"given":"Raquel","family":"Sanchez-Valle","sequence":"additional","affiliation":[]},{"given":"Albert","family":"Llad\u00f3","sequence":"additional","affiliation":[]},{"given":"Benedetta","family":"Nacmias","sequence":"additional","affiliation":[]},{"given":"Sandro","family":"Sorbi","sequence":"additional","affiliation":[]},{"given":"Ellen","family":"Gelpi","sequence":"additional","affiliation":[]},{"given":"Oriol","family":"Grau-Rivera","sequence":"additional","affiliation":[]},{"given":"Estrella","family":"G\u00f3mez-Tortosa","sequence":"additional","affiliation":[]},{"given":"Pau","family":"Pastor","sequence":"additional","affiliation":[]},{"given":"Sara","family":"Ortega-Cubero","sequence":"additional","affiliation":[]},{"given":"Maria A.","family":"Pastor","sequence":"additional","affiliation":[]},{"given":"Caroline","family":"Graff","sequence":"additional","affiliation":[]},{"given":"H\u00e5kan","family":"Thonberg","sequence":"additional","affiliation":[]},{"given":"Luisa","family":"Benussi","sequence":"additional","affiliation":[]},{"given":"Roberta","family":"Ghidoni","sequence":"additional","affiliation":[]},{"given":"Giuliano","family":"Binetti","sequence":"additional","affiliation":[]},{"given":"Alexandre","family":"de Mendon\u00e7a","sequence":"additional","affiliation":[]},{"given":"Madalena","family":"Martins","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Borroni","sequence":"additional","affiliation":[]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[]},{"given":"Maria Ros\u00e1rio","family":"Almeida","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Santana","sequence":"additional","affiliation":[]},{"given":"Janine","family":"Diehl-Schmid","sequence":"additional","affiliation":[]},{"given":"Panagiotis","family":"Alexopoulos","sequence":"additional","affiliation":[]},{"given":"Jordi","family":"Clarimon","sequence":"additional","affiliation":[]},{"given":"Alberto","family":"Lle\u00f3","sequence":"additional","affiliation":[]},{"given":"Juan","family":"Fortea","sequence":"additional","affiliation":[]},{"given":"Magda","family":"Tsolaki","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Koutroumani","sequence":"additional","affiliation":[]},{"given":"Radoslav","family":"Mat\u011bj","sequence":"additional","affiliation":[]},{"given":"Zdenek","family":"Rohan","sequence":"additional","affiliation":[]},{"given":"Peter","family":"De Deyn","sequence":"additional","affiliation":[]},{"given":"Sebastiaan","family":"Engelborghs","sequence":"additional","affiliation":[]},{"given":"Patrick","family":"Cras","sequence":"additional","affiliation":[]},{"given":"Christine","family":"Van Broeckhoven","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0283-2332","authenticated-orcid":false,"given":"Kristel","family":"Sleegers","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2017,4,27]]},"reference":[{"key":"1714_CR1","doi-asserted-by":"publisher","first-page":"e126","DOI":"10.1212\/NXG.0000000000000126","volume":"3","author":"M Allen","year":"2017","unstructured":"Allen M, Lincoln SJ, Corda M, Watzlawik JO, Carrasquillo MM, Reddy JS et al (2017) ABCA7 loss-of-function variants, expression, and neurologic disease risk. Neurol Genet 3:e126. doi:\n                        10.1212\/NXG.0000000000000126","journal-title":"Neurol Genet"},{"key":"1714_CR2","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1212\/WNL.0b013e3182605801","volume":"79","author":"M Allen","year":"2012","unstructured":"Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS et al (2012) Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 79:221\u2013228. doi:\n                        10.1212\/WNL.0b013e3182605801","journal-title":"Neurology"},{"key":"1714_CR3","unstructured":"Aronesty E (2011) ea-utils: Command-line tools for processing biological sequencing data. In: Expression analysis, Durham, NC. \n                        https:\/\/github.com\/ExpressionAnalysis\/ea-utils"},{"key":"1714_CR4","doi-asserted-by":"publisher","first-page":"1587","DOI":"10.1126\/science.1230612","volume":"338","author":"NL Barbosa-Morais","year":"2012","unstructured":"Barbosa-Morais NL, Irimia M, Pan Q, Xiong HY, Gueroussov S, Lee LJ et al (2012) The evolutionary landscape of alternative splicing in vertebrate species. Science 338:1587\u20131593. doi:\n                        10.1126\/science.1230612","journal-title":"Science"},{"key":"1714_CR5","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1016\/j.molmed.2012.09.008","volume":"18","author":"L Bidou","year":"2012","unstructured":"Bidou L, Allamand V, Rousset JP, Namy O (2012) Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med 18:679\u2013688. doi:\n                        10.1016\/j.molmed.2012.09.008","journal-title":"Trends Mol Med"},{"key":"1714_CR6","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","volume":"30","author":"AM Bolger","year":"2014","unstructured":"Bolger AM, Lohse M, Usadel B (2014) Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30:2114\u20132120. doi:\n                        10.1093\/bioinformatics\/btu170","journal-title":"Bioinformatics"},{"key":"1714_CR7","doi-asserted-by":"publisher","first-page":"2126","DOI":"10.1212\/WNL.0000000000002628","volume":"86","author":"T Bossche Van den","year":"2016","unstructured":"Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A et al (2016) Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation. Neurology 86:2126\u20132133. doi:\n                        10.1212\/WNL.0000000000002628","journal-title":"Neurology"},{"key":"1714_CR8","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1016\/j.jalz.2016.01.012","volume":"12","author":"R Cacace","year":"2016","unstructured":"Cacace R, Sleegers K, Van Broeckhoven C (2016) Molecular genetics of early-onset Alzheimer disease revisited. Alzheimers Dement 12:733\u2013748. doi:\n                        10.1016\/j.jalz.2016.01.012","journal-title":"Alzheimers Dement"},{"key":"1714_CR9","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L et al (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff. Fly (Austin) 6:80\u201392. doi:\n                        10.4161\/fly.19695","journal-title":"Fly (Austin)"},{"key":"1714_CR10","doi-asserted-by":"publisher","first-page":"e79","DOI":"10.1212\/NXG.0000000000000079","volume":"2","author":"HN Cukier","year":"2016","unstructured":"Cukier HN, Kunkle BW, Vardarajan BN, Rolati S, Hamilton-Nelson KL, Kohli MA et al (2016) ABCA7 frameshift deletion associated with Alzheimer disease in African Americans. Neurol Genet 2:e79. doi:\n                        10.1212\/NXG.0000000000000079","journal-title":"Neurol Genet"},{"key":"1714_CR11","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/S1474-4422(15)00133-7","volume":"14","author":"E Cuyvers","year":"2015","unstructured":"Cuyvers E, De Roeck A, Van den Bossche T, Van Cauwenberghe C, Bettens K, Vermeulen S et al (2015) Mutations in ABCA7 in a Belgian cohort of Alzheimer\u2019s disease patients: a targeted resequencing study. Lancet Neurol 14:814\u2013822. doi:\n                        10.1016\/S1474-4422(15)00133-7","journal-title":"Lancet Neurol"},{"key":"1714_CR12","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/S1474-4422(16)00127-7","volume":"15","author":"E Cuyvers","year":"2016","unstructured":"Cuyvers E, Sleegers K (2016) Genetic variations underlying Alzheimer\u2019s disease: evidence from genome-wide association studies and beyond. Lancet Neurol 15:857\u2013868. doi:\n                        10.1016\/S1474-4422(16)00127-7","journal-title":"Lancet Neurol"},{"key":"1714_CR13","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/s13195-015-0154-x","volume":"7","author":"JL Del-Aguila","year":"2015","unstructured":"Del-Aguila JL, Fern\u00e1ndez MV, Jimenez J, Black K, Ma S, Deming Y et al (2015) Role of ABCA7 loss-of-function variant in Alzheimer\u2019s disease: a replication study in European-Americans. Alzheimers Res Ther 7:73. doi:\n                        10.1186\/s13195-015-0154-x","journal-title":"Alzheimers Res Ther"},{"key":"1714_CR14","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.mcn.2013.04.005","volume":"56","author":"AGL Douglas","year":"2013","unstructured":"Douglas AGL, Wood MJA (2013) Splicing therapy for neuromuscular disease. Mol Cell Neurosci 56:169\u2013185. doi:\n                        10.1016\/j.mcn.2013.04.005","journal-title":"Mol Cell Neurosci"},{"key":"1714_CR15","doi-asserted-by":"publisher","first-page":"569","DOI":"10.3233\/JAD-160456","volume":"54","author":"Y Fu","year":"2016","unstructured":"Fu Y, Hsiao J-HT, Paxinos G, Halliday GM, Kim WS (2016) ABCA7 mediates phagocytic clearance of amyloid-\u03b2 in the brain. J Alzheimers Dis 54:569\u2013584. doi:\n                        10.3233\/JAD-160456","journal-title":"J Alzheimers Dis"},{"key":"1714_CR16","doi-asserted-by":"publisher","first-page":"2134","DOI":"10.1212\/WNL.0000000000002627","volume":"86","author":"K Guennec Le","year":"2016","unstructured":"Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C et al (2016) ABCA7 rare variants and Alzheimer disease risk. Neurology 86:2134\u20132137. doi:\n                        10.1212\/WNL.0000000000002627","journal-title":"Neurology"},{"key":"1714_CR17","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1038\/ng.440","volume":"41","author":"D Harold","year":"2009","unstructured":"Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML et al (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer\u2019s disease. Nat Genet 41:1088\u20131093. doi:\n                        10.1038\/ng.440","journal-title":"Nat Genet"},{"key":"1714_CR18","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1038\/ng.803","volume":"43","author":"P Hollingworth","year":"2011","unstructured":"Hollingworth P, Harold D, Sims R, Gerrish A, Lambert J-C, Carrasquillo MM et al (2011) Common variants at ABCA7, MS4A6A\/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer\u2019s disease. Nat Genet 43:429\u2013435. doi:\n                        10.1038\/ng.803","journal-title":"Nat Genet"},{"key":"1714_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jalz.2011.10.007","volume":"8","author":"BT Hyman","year":"2012","unstructured":"Hyman BT, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Carrillo MC et al (2012) National Institute on Aging\u2013Alzheimer\u2019s Association guidelines for the neuropathologic assessment of Alzheimer\u2019s disease. Alzheimers Dement 8:1\u201313. doi:\n                        10.1016\/j.jalz.2011.10.007","journal-title":"Alzheimers Dement"},{"key":"1714_CR20","doi-asserted-by":"publisher","first-page":"1915","DOI":"10.1194\/jlr.M600127-JLR200","volume":"47","author":"N Iwamoto","year":"2006","unstructured":"Iwamoto N, Abe-Dohmae S, Sato R, Yokoyama S (2006) ABCA7 expression is regulated by cellular cholesterol through the SREBP2 pathway and associated with phagocytosis. J Lipid Res 47:1915\u20131927. doi:\n                        10.1194\/jlr.M600127-JLR200","journal-title":"J Lipid Res"},{"key":"1714_CR21","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1083\/jcb.200601030","volume":"174","author":"AW Jehle","year":"2006","unstructured":"Jehle AW, Gardai SJ, Li S, Linsel-Nitschke P, Morimoto K, Janssen WJ et al (2006) ATP-binding cassette transporter A7 enhances phagocytosis of apoptotic cells and associated ERK signaling in macrophages. J Cell Biol 174:547\u2013556. doi:\n                        10.1083\/jcb.200601030","journal-title":"J Cell Biol"},{"key":"1714_CR22","doi-asserted-by":"publisher","first-page":"R36","DOI":"10.1186\/gb-2013-14-4-r36","volume":"14","author":"D Kim","year":"2013","unstructured":"Kim D, Pertea G, Trapnell C, Pimentel H, Kelley R, Salzberg SL (2013) TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol 14:R36. doi:\n                        10.1186\/gb-2013-14-4-r36","journal-title":"Genome Biol"},{"key":"1714_CR23","doi-asserted-by":"publisher","first-page":"4387","DOI":"10.1523\/JNEUROSCI.4165-12.2013","volume":"33","author":"WS Kim","year":"2013","unstructured":"Kim WS, Li H, Ruberu K, Chan S, Elliott DA, Low JK et al (2013) Deletion of Abca7 increases cerebral amyloid-\u03b2 accumulation in the J20 mouse model of Alzheimer\u2019s disease. J Neurosci 33:4387\u20134394. doi:\n                        10.1523\/JNEUROSCI.4165-12.2013","journal-title":"J Neurosci"},{"key":"1714_CR24","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019Roak BJ, Cooper GM, Shendure J (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310\u2013315. doi:\n                        10.1038\/ng.2892","journal-title":"Nat Genet"},{"key":"1714_CR25","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.1101\/gr.092759.109","volume":"19","author":"M Krzywinski","year":"2009","unstructured":"Krzywinski M, Schein J, Birol I, Connors J, Gascoyne R, Horsman D et al (2009) Circos: an information aesthetic for comparative genomics. Genome Res 19:1639\u20131645. doi:\n                        10.1101\/gr.092759.109","journal-title":"Genome Res"},{"key":"1714_CR26","doi-asserted-by":"publisher","first-page":"1094","DOI":"10.1038\/ng.439","volume":"41","author":"J-C Lambert","year":"2009","unstructured":"Lambert J-C, Heath S, Even G, Campion D, Sleegers K, Hiltunen M et al (2009) Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer\u2019s disease. Nat Genet 41:1094\u20131099. doi:\n                        10.1038\/ng.439","journal-title":"Nat Genet"},{"key":"1714_CR27","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1038\/ng.2802","volume":"45","author":"J-C Lambert","year":"2013","unstructured":"Lambert J-C, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C et al (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer\u2019s disease. Nat Genet 45:1452\u20131458. doi:\n                        10.1038\/ng.2802","journal-title":"Nat Genet"},{"key":"1714_CR28","doi-asserted-by":"publisher","DOI":"10.1038\/srep21746","author":"TW Laver","year":"2016","unstructured":"Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM et al (2016) Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Nat Publ Gr. doi:\n                        10.1038\/srep21746","journal-title":"Nat Publ Gr"},{"key":"1714_CR29","unstructured":"Lee S (2015) MetaSKAT: Meta analysis for SNP-Set (sequence) Kernel Association Test"},{"key":"1714_CR30","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows\u2013Wheeler transform. Bioinformatics 26:589\u2013595. doi:\n                        10.1093\/bioinformatics\/btp698","journal-title":"Bioinformatics"},{"key":"1714_CR31","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1042\/BST20150105","volume":"43","author":"H Li","year":"2015","unstructured":"Li H, Karl T, Garner B (2015) Understanding the function of ABCA7 in Alzheimer\u2019s disease. Biochem Soc Trans 43:920\u2013923. doi:\n                        10.1042\/BST20150105","journal-title":"Biochem Soc Trans"},{"key":"1714_CR32","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1194\/jlr.M400247-JLR200","volume":"46","author":"P Linsel-Nitschke","year":"2005","unstructured":"Linsel-Nitschke P, Jehle AW, Shan J, Cao G, Bacic D, Lan D et al (2005) Potential role of ABCA7 in cellular lipid efflux to apoA-I. J Lipid Res 46:86\u201392. doi:\n                        10.1194\/jlr.M400247-JLR200","journal-title":"J Lipid Res"},{"key":"1714_CR33","doi-asserted-by":"publisher","DOI":"10.1101\/007401","author":"N Loman","year":"2014","unstructured":"Loman N, Quinlan A (2014) Poretools: a toolkit for analyzing nanopore sequence data. Bioinformatics. doi:\n                        10.1101\/007401","journal-title":"Bioinformatics"},{"key":"1714_CR34","doi-asserted-by":"crossref","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 (1984) 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 34:939\u2013944","journal-title":"Neurology"},{"key":"1714_CR35","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.jalz.2011.03.005","volume":"7","author":"GM McKhann","year":"2011","unstructured":"McKhann GM, Knopman DS, Chertkow H, Hyman BT, Jack CR, Kawas CH et al (2011) The diagnosis of dementia due to Alzheimer\u2019s disease: recommendations from the National Institute on Aging-Alzheimer\u2019s Association workgroups on diagnostic guidelines for Alzheimer\u2019s disease. Alzheimers Dement 7:263\u2013269. doi:\n                        10.1016\/j.jalz.2011.03.005","journal-title":"Alzheimers Dement"},{"key":"1714_CR36","unstructured":"Morgan M, Pag\u00e8s H, Obenchain V and Hayden N (2017) Rsamtools: Binary alignment (BAM), FASTA, variant call (BCF), and tabix file import. R package version 1.26.2. \n                        http:\/\/bioconductor.org\/packages\/release\/bioc\/html\/Rsamtools.html"},{"key":"1714_CR37","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1038\/ng.801","volume":"43","author":"AC Naj","year":"2011","unstructured":"Naj AC, Jun G, Beecham GW, Wang L, Vardarajan BN, Buros J et al (2011) Common variants at MS4A4\/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer\u2019s disease. Nat Genet 43:436\u2013441. doi:\n                        10.1038\/ng.801","journal-title":"Nat Genet"},{"key":"1714_CR38","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1086\/383251","volume":"74","author":"DR Nyholt","year":"2004","unstructured":"Nyholt DR (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74:765\u2013769. doi:\n                        10.1086\/383251","journal-title":"Am J Hum Genet"},{"key":"1714_CR39","doi-asserted-by":"publisher","first-page":"31602","DOI":"10.1038\/srep31602","volume":"6","author":"S Oikonomopoulos","year":"2016","unstructured":"Oikonomopoulos S, Wang YC, Djambazian H, Badescu D, Ragoussis J (2016) Benchmarking of the Oxford Nanopore MinION sequencing for quantitative and qualitative assessment of cDNA populations. Sci Rep 6:31602. doi:\n                        10.1038\/srep31602","journal-title":"Sci Rep"},{"key":"1714_CR40","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559\u2013575. doi:\n                        10.1086\/519795","journal-title":"Am J Hum Genet"},{"key":"1714_CR41","doi-asserted-by":"publisher","first-page":"1483","DOI":"10.1001\/jama.2013.2973","volume":"309","author":"C Reitz","year":"2013","unstructured":"Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang L-S et al (2013) Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E e4, and the risk of late-onset Alzheimer disease in African Americans. JAMA 309:1483\u20131492. doi:\n                        10.1001\/jama.2013.2973","journal-title":"JAMA"},{"key":"1714_CR42","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1038\/nbt.2053","volume":"30","author":"J Reumers","year":"2012","unstructured":"Reumers J, De Rijk P, Zhao H, Liekens A, Smeets D, Cleary J et al (2012) Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat Biotechnol 30:61\u201368. doi:\n                        10.1038\/nbt.2053","journal-title":"Nat Biotechnol"},{"key":"1714_CR43","doi-asserted-by":"publisher","first-page":"3848","DOI":"10.1523\/JNEUROSCI.3757-15.2016","volume":"36","author":"N Sakae","year":"2016","unstructured":"Sakae N, Liu C-C, Shinohara M, Frisch-Daiello J, Ma L, Yamazaki Y et al (2016) ABCA7 deficiency accelerates amyloid-beta generation and Alzheimer\u2019s neuronal pathology. J Neurosci 36:3848\u20133859. doi:\n                        10.1523\/JNEUROSCI.3757-15.2016","journal-title":"J Neurosci"},{"key":"1714_CR44","doi-asserted-by":"publisher","first-page":"235.e1","DOI":"10.1016\/j.neurobiolaging.2016.04.004","volume":"46","author":"C Sassi","year":"2016","unstructured":"Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK et al (2016) ABCA7 p. G215S as potential protective factor for Alzheimer\u2019s disease. Neurobiol Aging 46:235.e1\u2013235.e9. doi:\n                        10.1016\/j.neurobiolaging.2016.04.004","journal-title":"Neurobiol Aging"},{"key":"1714_CR45","doi-asserted-by":"publisher","first-page":"24152","DOI":"10.1074\/jbc.M115.655076","volume":"290","author":"K Satoh","year":"2015","unstructured":"Satoh K, Abe-Dohmae S, Yokoyama S, St. George-Hyslop P, Fraser PE (2015) ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing. J Biol Chem 290:24152\u201324165. doi:\n                        10.1074\/jbc.M115.655076","journal-title":"J Biol Chem"},{"key":"1714_CR46","doi-asserted-by":"publisher","first-page":"1832","DOI":"10.1001\/jama.2010.574","volume":"303","author":"S Seshadri","year":"2010","unstructured":"Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M et al (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303:1832\u20131840. doi:\n                        10.1001\/jama.2010.574","journal-title":"JAMA"},{"key":"1714_CR47","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1038\/ng.3246","volume":"47","author":"S Steinberg","year":"2015","unstructured":"Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H et al (2015) Loss-of-function variants in ABCA7 confer risk of Alzheimer\u2019s disease. Nat Genet 47:445\u2013447. doi:\n                        10.1038\/ng.3246","journal-title":"Nat Genet"},{"key":"1714_CR48","doi-asserted-by":"crossref","first-page":"274","DOI":"10.5551\/jat.6726","volume":"18","author":"N Tanaka","year":"2011","unstructured":"Tanaka N, Abe-Dohmae S, Iwamoto N, Yokoyama S (2011) Roles of ATP-binding cassette transporter A7 in cholesterol homeostasis and host defense system. J Atheroscler Thromb 18:274\u2013281","journal-title":"J Atheroscler Thromb"},{"key":"1714_CR49","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1002\/ana.24466","volume":"78","author":"BN Vardarajan","year":"2015","unstructured":"Vardarajan BN, Ghani M, Kahn A, Sheikh S, Sato C, Barral S et al (2015) Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci. Ann Neurol 78:487\u2013498. doi:\n                        10.1002\/ana.24466","journal-title":"Ann Neurol"},{"key":"1714_CR50","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.neulet.2013.09.058","volume":"556","author":"JB Vasquez","year":"2013","unstructured":"Vasquez JB, Fardo DW, Estus S (2013) ABCA7 expression is associated with Alzheimer\u2019s disease polymorphism and disease status. Neurosci Lett 556:58\u201362. doi:\n                        10.1016\/j.neulet.2013.09.058","journal-title":"Neurosci Lett"},{"key":"1714_CR51","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1007\/s00401-016-1566-9","volume":"132","author":"J Verheijen","year":"2016","unstructured":"Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Llad\u00f3 A et al (2016) A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer\u2019s disease. Acta Neuropathol 132:213\u2013224. doi:\n                        10.1007\/s00401-016-1566-9","journal-title":"Acta Neuropathol"},{"key":"1714_CR52","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1101\/gr.2754005","volume":"15","author":"S Weckx","year":"2005","unstructured":"Weckx S, Del-Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P et al (2005) novoSNP, a novel computational tool for sequence variation discovery. Genome Res 15:436\u2013442","journal-title":"Genome Res"},{"key":"1714_CR53","doi-asserted-by":"publisher","first-page":"1859","DOI":"10.1093\/bioinformatics\/bti310","volume":"21","author":"TD Wu","year":"2005","unstructured":"Wu TD, Watanabe CK (2005) GMAP: a genomic mapping and alignment program for mRNA and EST sequences. Bioinformatics 21:1859\u20131875. doi:\n                        10.1093\/bioinformatics\/bti310","journal-title":"Bioinformatics"},{"key":"1714_CR54","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/1471-2156-9-83","volume":"9","author":"AB Zetoune","year":"2008","unstructured":"Zetoune AB, Fontani\u00e8re S, Magnin D, Anczuk\u00f3w O, Buisson M, Zhang CX et al (2008) Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues. BMC Genet 9:83. doi:\n                        10.1186\/1471-2156-9-83","journal-title":"BMC Genet"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-017-1714-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-017-1714-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-017-1714-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T21:00:42Z","timestamp":1589749242000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-017-1714-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,27]]},"references-count":54,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["1714"],"URL":"https:\/\/doi.org\/10.1007\/s00401-017-1714-x","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,27]]}}}