{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T06:15:13Z","timestamp":1775542513791,"version":"3.50.1"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2016,3,30]],"date-time":"2016-03-30T00:00:00Z","timestamp":1459296000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1007\/s00401-016-1566-9","type":"journal-article","created":{"date-parts":[[2016,3,30]],"date-time":"2016-03-30T14:46:38Z","timestamp":1459349198000},"page":"213-224","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":103,"title":["A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer\u2019s disease"],"prefix":"10.1007","volume":"132","author":[{"given":"Jan","family":"Verheijen","sequence":"first","affiliation":[]},{"given":"Tobi","family":"Van den Bossche","sequence":"additional","affiliation":[]},{"given":"Julie","family":"van der Zee","sequence":"additional","affiliation":[]},{"given":"Sebastiaan","family":"Engelborghs","sequence":"additional","affiliation":[]},{"given":"Raquel","family":"Sanchez-Valle","sequence":"additional","affiliation":[]},{"given":"Albert","family":"Llad\u00f3","sequence":"additional","affiliation":[]},{"given":"Caroline","family":"Graff","sequence":"additional","affiliation":[]},{"given":"H\u00e5kan","family":"Thonberg","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":"Luisa","family":"Benussi","sequence":"additional","affiliation":[]},{"given":"Roberta","family":"Ghidoni","sequence":"additional","affiliation":[]},{"given":"Giuliano","family":"Binetti","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":"Alexandre","family":"de Mendon\u00e7a","sequence":"additional","affiliation":[]},{"given":"Madalena","family":"Martins","sequence":"additional","affiliation":[]},{"given":"Oriol","family":"Grau-Rivera","sequence":"additional","affiliation":[]},{"given":"Ellen","family":"Gelpi","sequence":"additional","affiliation":[]},{"given":"Karolien","family":"Bettens","sequence":"additional","affiliation":[]},{"given":"Ligia","family":"Mateiu","sequence":"additional","affiliation":[]},{"given":"Lubina","family":"Dillen","sequence":"additional","affiliation":[]},{"given":"Patrick","family":"Cras","sequence":"additional","affiliation":[]},{"given":"Peter P.","family":"De Deyn","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0183-7665","authenticated-orcid":false,"given":"Christine","family":"Van Broeckhoven","sequence":"additional","affiliation":[]},{"given":"Kristel","family":"Sleegers","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2016,3,30]]},"reference":[{"key":"1566_CR1","doi-asserted-by":"publisher","first-page":"13461","DOI":"10.1073\/pnas.0503689102","volume":"102","author":"OM Andersen","year":"2005","unstructured":"Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, Breiderhoff T, Jansen P, Wu X et al (2005) Neuronal sorting protein-related receptor sorLA\/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 102:13461\u201313466. doi: 10.1073\/pnas.0503689102","journal-title":"Proc Natl Acad Sci USA"},{"key":"1566_CR2","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, McKinstry WJ, Parker MW, Masters CL, Hyman BT et al (2006) Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA\/LR11. Biochemistry 45:2618\u20132628. doi: 10.1021\/bi052120v","journal-title":"Biochemistry"},{"key":"1566_CR3","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 (Oxford, England) 30:2114\u20132120. doi: 10.1093\/bioinformatics\/btu170","journal-title":"Bioinformatics (Oxford, England)"},{"key":"1566_CR4","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1080\/07853890802186905","volume":"40","author":"N Brouwers","year":"2008","unstructured":"Brouwers N, Sleegers K, Van Broeckhoven C (2008) Molecular genetics of Alzheimer\u2019s disease: an update. Ann Med 40:562\u2013583. doi: 10.1080\/07853890802186905","journal-title":"Ann Med"},{"key":"1566_CR5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22908","author":"R Cacace","year":"2015","unstructured":"Cacace R, Van den Bossche T, Engelborghs S, Geerts N, Laureys A, Dillen L, Graff C, Thonberg H, Chiang HH, Pastor P et al (2015) Rare variants in PLD3 do not affect risk for early-onset Alzheimer disease in a European consortium cohort. Human Mutat. doi: 10.1002\/humu.22908","journal-title":"Human Mutat"},{"key":"1566_CR6","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1001\/archneurol.2011.788","volume":"69","author":"S Caglayan","year":"2012","unstructured":"Caglayan S, Bauerfeind A, Schmidt V, Carlo AS, Prabakaran T, Hubner N, Willnow TE (2012) Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain. Arch Neurol 69:373\u2013379. doi: 10.1001\/archneurol.2011.788","journal-title":"Arch Neurol"},{"key":"1566_CR7","doi-asserted-by":"publisher","first-page":"223ra220","DOI":"10.1126\/scitranslmed.3007747","volume":"6","author":"S Caglayan","year":"2014","unstructured":"Caglayan S, Takagi-Niidome S, Liao F, Carlo AS, Schmidt V, Burgert T, Kitago Y, Fuchtbauer EM, Fuchtbauer A, Holtzman DM et al (2014) Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer\u2019s disease mutation. Sci Transl Med 6:223ra220. doi: 10.1126\/scitranslmed.3007747","journal-title":"Sci Transl Med"},{"key":"1566_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 et al (1999) Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 65:664\u2013670. doi: 10.1086\/302553","journal-title":"Am J Hum Genet"},{"key":"1566_CR9","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1002\/gepi.21791","volume":"38","author":"H Chen","year":"2014","unstructured":"Chen H, Lumley T, Brody J, Heard-Costa NL, Fox CS, Cupples LA, Dupuis J (2014) Sequence kernel association test for survival traits. Genet Epidemiol 38:191\u2013197. doi: 10.1002\/gepi.21791","journal-title":"Genet Epidemiol"},{"key":"1566_CR10","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, Mattheijssens M, Peeters K, Engelborghs S, Vandenbulcke M 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: 10.1016\/s1474-4422(15)00133-7","journal-title":"Lancet Neurol"},{"issue":"2005","key":"1566_CR11","doi-asserted-by":"publisher","first-page":"e2015","DOI":"10.1016\/j.neurobiolaging.2015.02.014","volume":"36","author":"E Cuyvers","year":"2015","unstructured":"Cuyvers E, van der Zee J, Bettens K, Engelborghs S, Vandenbulcke M, Robberecht C, Dillen L, Merlin C, Geerts N, Graff C et al (2015) Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study. Neurobiol Aging 36(2005):e2015\u2013e2022. doi: 10.1016\/j.neurobiolaging.2015.02.014","journal-title":"Neurobiol Aging"},{"key":"1566_CR12","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1136\/jnnp.74.8.1148","volume":"74","author":"S Engelborghs","year":"2003","unstructured":"Engelborghs S, Dermaut B, Goeman J, Saerens J, Marien P, Pickut BA, Van den Broeck M, Serneels S, Cruts M, Van Broeckhoven C et al (2003) Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. J Neurol Neurosurg Psychiatry 74:1148\u20131151","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1566_CR13","doi-asserted-by":"publisher","first-page":"616","DOI":"10.4161\/cib.21433","volume":"5","author":"AW Fjorback","year":"2012","unstructured":"Fjorback AW, Andersen OM (2012) SorLA is a molecular link for retromer-dependent sorting of the Amyloid precursor protein. Commun Integr Biol 5:616\u2013619. doi: 10.4161\/cib.21433","journal-title":"Commun Integr Biol"},{"key":"1566_CR14","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.1523\/jneurosci.2272-11.2012","volume":"32","author":"AW Fjorback","year":"2012","unstructured":"Fjorback AW, Seaman M, Gustafsen C, Mehmedbasic A, Gokool S, Wu C, Militz D, Schmidt V, Madsen P, Nyengaard JR et al (2012) Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing. J Neurosc Off J Soc Neurosci 32:1467\u20131480. doi: 10.1523\/jneurosci.2272-11.2012","journal-title":"J Neurosc Off J Soc Neurosci"},{"key":"1566_CR15","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","volume":"12","author":"MF Folstein","year":"1975","unstructured":"Folstein MF, Folstein SE, McHugh PR (1975) \u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189\u2013198","journal-title":"J Psychiatr Res"},{"key":"1566_CR16","doi-asserted-by":"publisher","first-page":"2677","DOI":"10.1007\/s00018-009-0043-1","volume":"66","author":"G Hermey","year":"2009","unstructured":"Hermey G (2009) The Vps10p-domain receptor family. Cell Mol Life Sci CMLS 66:2677\u20132689. doi: 10.1007\/s00018-009-0043-1","journal-title":"Cell Mol Life Sci CMLS"},{"key":"1566_CR17","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, Dickson DW, Duyckaerts C, Frosch MP, Masliah E et al (2012) National Institute on Aging-Alzheimer\u2019s Association guidelines for the neuropathologic assessment of Alzheimer\u2019s disease. Alzheimer\u2019s Dement J Alzheimer\u2019s Assoc 8:1\u201313. doi: 10.1016\/j.jalz.2011.10.007","journal-title":"Alzheimer\u2019s Dement J Alzheimer\u2019s Assoc"},{"key":"1566_CR18","unstructured":"Prince M, Albanese E, Guerchet M, Prina M (2014) World Alzheimer Report 2014: Dementia and risk reduction: an analysis of protective and modifiable risk factors. Alzheimer's Disease International, London"},{"key":"1566_CR19","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1177\/1533317514545825","volume":"30","author":"AI Jarmolowicz","year":"2015","unstructured":"Jarmolowicz AI, Chen HY, Panegyres PK (2015) The patterns of inheritance in early-onset dementia: Alzheimer\u2019s disease and frontotemporal dementia. Am J Alzheimer\u2019s Dis Other Dement 30:299\u2013306. doi: 10.1177\/1533317514545825","journal-title":"Am J Alzheimer\u2019s Dis Other Dement"},{"key":"1566_CR20","doi-asserted-by":"publisher","first-page":"429","DOI":"10.3233\/jad-130533","volume":"37","author":"C Jin","year":"2013","unstructured":"Jin C, Liu X, Zhang F, Wu Y, Yuan J, Zhu J, Zhang F, Wang G, Cheng Z (2013) An updated meta-analysis of the association between SORL1 variants and the risk for sporadic Alzheimer\u2019s disease. J Alzheimer\u2019s Dis JAD 37:429\u2013437. doi: 10.3233\/jad-130533","journal-title":"J Alzheimer\u2019s Dis JAD"},{"key":"1566_CR21","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: 10.1186\/gb-2013-14-4-r36","journal-title":"Genome Biol"},{"key":"1566_CR22","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2954","author":"Y Kitago","year":"2015","unstructured":"Kitago Y, Nagae M, Nakata Z, Yagi-Utsumi M, Takagi-Niidome S, Mihara E, Nogi T, Kato K, Takagi J (2015) Structural basis for amyloidogenic peptide recognition by sorLA. Nat Struct Mol Biol. doi: 10.1038\/nsmb.2954","journal-title":"Nat Struct Mol Biol"},{"key":"1566_CR23","doi-asserted-by":"publisher","first-page":"2283","DOI":"10.1093\/bioinformatics\/btp373","volume":"25","author":"DC Koboldt","year":"2009","unstructured":"Koboldt DC, Chen K, Wylie T, Larson DE, McLellan MD, Mardis ER, Weinstock GM, Wilson RK, Ding L (2009) VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (Oxford, England) 25:2283\u20132285. doi: 10.1093\/bioinformatics\/btp373","journal-title":"Bioinformatics (Oxford, England)"},{"key":"1566_CR24","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1038\/ng.2802","volume":"45","author":"JC Lambert","year":"2013","unstructured":"Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW et al (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer\u2019s disease. Nat Genet 45:1452\u20131458. doi: 10.1038\/ng.2802","journal-title":"Nat Genet"},{"key":"1566_CR25","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1093\/biostatistics\/kxs014","volume":"13","author":"S Lee","year":"2012","unstructured":"Lee S, Wu MC, Lin X (2012) Optimal tests for rare variant effects in sequencing association studies. Biostatistics (Oxford, England) 13:762\u2013775. doi: 10.1093\/biostatistics\/kxs014","journal-title":"Biostatistics (Oxford, England)"},{"key":"1566_CR26","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (Oxford, England) 25:1754\u20131760. doi: 10.1093\/bioinformatics\/btp324","journal-title":"Bioinformatics (Oxford, England)"},{"key":"1566_CR27","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(\u2212Delta Delta C(T)) Method. Methods (San Diego, Calif) 25:402\u2013408. doi: 10.1006\/meth.2001.1262","journal-title":"Methods (San Diego, Calif)"},{"key":"1566_CR28","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M et al (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303. doi: 10.1101\/gr.107524.110","journal-title":"Genome Res"},{"key":"1566_CR29","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":"1566_CR30","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 Jr, Kawas CH, Klunk WE, Koroshetz WJ, Manly JJ, Mayeux R 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. Alzheimer\u2019s Dement J Alzheimer\u2019s Assoc 7:263\u2013269. doi: 10.1016\/j.jalz.2011.03.005","journal-title":"Alzheimer\u2019s Dement J Alzheimer\u2019s Assoc"},{"key":"1566_CR31","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.1093\/bioinformatics\/btq330","volume":"26","author":"W McLaren","year":"2010","unstructured":"McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics (Oxford, England) 26:2069\u20132070. doi: 10.1093\/bioinformatics\/btq330","journal-title":"Bioinformatics (Oxford, England)"},{"key":"1566_CR32","doi-asserted-by":"publisher","first-page":"3359","DOI":"10.1074\/jbc.M114.619940","volume":"290","author":"A Mehmedbasic","year":"2015","unstructured":"Mehmedbasic A, Christensen SK, Nilsson J, Ruetschi U, Gustafsen C, Poulsen AS, Rasmussen RW, Fjorback AN, Larson G, Andersen OM (2015) SorLA complement-type repeat domains protect the amyloid precursor protein against processing. J Biol Chem 290:3359\u20133376. doi: 10.1074\/jbc.M114.619940","journal-title":"J Biol Chem"},{"key":"1566_CR33","doi-asserted-by":"publisher","first-page":"e58618","DOI":"10.1371\/journal.pone.0058618","volume":"8","author":"A Miyashita","year":"2013","unstructured":"Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H et al (2013) SORL1 is genetically associated with late-onset Alzheimer\u2019s disease in Japanese. Koreans and Caucasians. PloS One 8:e58618. doi: 10.1371\/journal.pone.0058618","journal-title":"PloS One"},{"key":"1566_CR34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00401-011-0910-3","volume":"123","author":"TJ Montine","year":"2012","unstructured":"Montine TJ, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Dickson DW, Duyckaerts C, Frosch MP, Masliah E, Mirra SS et al (2012) National Institute on Aging-Alzheimer\u2019s Association guidelines for the neuropathologic assessment of Alzheimer\u2019s disease: a practical approach. Acta Neuropathol 123:1\u201311. doi: 10.1007\/s00401-011-0910-3","journal-title":"Acta Neuropathol"},{"key":"1566_CR35","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2015.121","author":"G Nicolas","year":"2015","unstructured":"Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K et al (2015) SORL1 rare variants: a major risk factor for familial early-onset Alzheimer\u2019s disease. Mol Psychiatry. doi: 10.1038\/mp.2015.121","journal-title":"Mol Psychiatry"},{"key":"1566_CR36","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1523\/jneurosci.4946-05.2006","volume":"26","author":"K Offe","year":"2006","unstructured":"Offe K, Dodson SE, Shoemaker JT, Fritz JJ, Gearing M, Levey AI, Lah JJ (2006) The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments. J Neurosci Off J Soc Neurosci 26:1596\u20131603. doi: 10.1523\/jneurosci.4946-05.2006","journal-title":"J Neurosci Off J Soc Neurosci"},{"key":"1566_CR37","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1038\/mp.2012.15","volume":"17","author":"C Pottier","year":"2012","unstructured":"Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J et al (2012) High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 17:875\u2013879. doi: 10.1038\/mp.2012.15","journal-title":"Mol Psychiatry"},{"key":"1566_CR38","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 MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Human Genetics 81:559\u2013575. doi: 10.1086\/519795","journal-title":"Am J Human Genetics"},{"key":"1566_CR39","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, Bettens K, Sleegers K, Tan EK, Kimura R et al (2011) Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 68:99\u2013106. doi: 10.1001\/archneurol.2010.346","journal-title":"Arch Neurol"},{"key":"1566_CR40","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, Van Loo P, Van Den Bossche M, Catthoor K, Sabbe B et al (2012) Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat Biotechnol 30:61\u201368. doi: 10.1038\/nbt.2053","journal-title":"Nat Biotechnol"},{"key":"1566_CR41","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/nbt.1754","volume":"29","author":"JT Robinson","year":"2011","unstructured":"Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP (2011) Integrative genomics viewer. Nat Biotechnol 29:24\u201326. doi: 10.1038\/nbt.1754","journal-title":"Nat Biotechnol"},{"key":"1566_CR42","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, Katayama T, Baldwin CT, Cheng R, Hasegawa H et al (2007) The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 39:168\u2013177. doi: 10.1038\/ng1943","journal-title":"Nat Genet"},{"key":"1566_CR43","doi-asserted-by":"publisher","first-page":"e127","DOI":"10.1093\/nar\/gks425","volume":"40","author":"RV Satya","year":"2012","unstructured":"Satya RV, Zavaljevski N, Reifman J (2012) A new strategy to reduce allelic bias in RNA-Seq readmapping. Nucleic acids Res 40:e127. doi: 10.1093\/nar\/gks425","journal-title":"Nucleic acids Res"},{"key":"1566_CR44","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1001\/archneur.61.8.1200","volume":"61","author":"CR Scherzer","year":"2004","unstructured":"Scherzer CR, Offe K, Gearing M, Rees HD, Fang G, Heilman CJ, Schaller C, Bujo H, Levey AI, Lah JJ (2004) Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch Neurol 61:1200\u20131205. doi: 10.1001\/archneur.61.8.1200","journal-title":"Arch Neurol"},{"key":"1566_CR45","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1002\/humu.22244","volume":"34","author":"J Zee van der","year":"2013","unstructured":"van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A et al (2013) A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Human Mutat 34:363\u2013373. doi: 10.1002\/humu.22244","journal-title":"Human Mutat"},{"key":"1566_CR46","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1007\/s00401-014-1298-7","volume":"128","author":"J Zee van der","year":"2014","unstructured":"van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matej R, Vandenbulcke M, Sieben A, Dermaut B et al (2014) Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol 128:397\u2013410. doi: 10.1007\/s00401-014-1298-7","journal-title":"Acta Neuropathol"},{"key":"1566_CR47","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1093\/bioinformatics\/btr254","volume":"27","author":"J Durme Van","year":"2011","unstructured":"Van Durme J, Delgado J, Stricher F, Serrano L, Schymkowitz J, Rousseau F (2011) A graphical interface for the FoldX forcefield. Bioinformatics (Oxford, England) 27:1711\u20131712. doi: 10.1093\/bioinformatics\/btr254","journal-title":"Bioinformatics (Oxford, England)"},{"key":"1566_CR48","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1002\/ana.24305","volume":"77","author":"BN Vardarajan","year":"2015","unstructured":"Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E et al (2015) Coding mutations in SORL1 and Alzheimer disease. Ann Neurol 77:215\u2013227. doi: 10.1002\/ana.24305","journal-title":"Ann Neurol"},{"key":"1566_CR49","doi-asserted-by":"publisher","first-page":"2184","DOI":"10.1093\/bioinformatics\/bts356","volume":"28","author":"L Wang","year":"2012","unstructured":"Wang L, Wang S, Li W (2012) RSeQC: quality control of RNA-seq experiments. Bioinformatics (Oxford, England) 28:2184\u20132185. doi: 10.1093\/bioinformatics\/bts356","journal-title":"Bioinformatics (Oxford, England)"},{"key":"1566_CR50","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-015-9546-y","author":"Z Wang","year":"2015","unstructured":"Wang Z, Lei H, Zheng M, Li Y, Cui Y, Hao F (2015) Meta-analysis of the Association between Alzheimer Disease and variants in GAB2, PICALM, and SORL1. Mol Neurobiol. doi: 10.1007\/s12035-015-9546-y","journal-title":"Mol Neurobiol"},{"key":"1566_CR51","doi-asserted-by":"publisher","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, Van Broeckhoven C, De Rijk P (2005) novoSNP, a novel computational tool for sequence variation discovery. Genome Res 15:436\u2013442. doi: 10.1101\/gr.2754005","journal-title":"Genome Res"},{"key":"1566_CR52","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1515\/REVNEURO.2010.21.4.315","volume":"21","author":"TE Willnow","year":"2010","unstructured":"Willnow TE, Carlo AS, Rohe M, Schmidt V (2010) SORLA\/SORL1, a neuronal sorting receptor implicated in Alzheimer\u2019s disease. Rev Neurosci 21:315\u2013329","journal-title":"Rev Neurosci"},{"key":"1566_CR53","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1001\/archneurol.2011.221","volume":"69","author":"TS Wingo","year":"2012","unstructured":"Wingo TS, Lah JJ, Levey AI, Cutler DJ (2012) Autosomal recessive causes likely in early-onset Alzheimer disease. Arch Neurol 69:59\u201364. doi: 10.1001\/archneurol.2011.221","journal-title":"Arch Neurol"},{"key":"1566_CR54","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/j.stem.2015.02.004","volume":"16","author":"JE Young","year":"2015","unstructured":"Young JE, Boulanger-Weill J, Williams DA, Woodruff G, Buen F, Revilla AC, Herrera C, Israel MA, Yuan SH, Edland SD et al (2015) Elucidating molecular phenotypes caused by the SORL1 Alzheimer\u2019s disease genetic risk factor using human induced pluripotent stem cells. Cell stem Cell 16:373\u2013385. doi: 10.1016\/j.stem.2015.02.004","journal-title":"Cell stem Cell"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-016-1566-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-016-1566-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-016-1566-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T15:15:53Z","timestamp":1553613353000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-016-1566-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,30]]},"references-count":54,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["1566"],"URL":"https:\/\/doi.org\/10.1007\/s00401-016-1566-9","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,30]]}}}