{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:38:07Z","timestamp":1791279487832,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1002\/humu.22908","type":"journal-article","created":{"date-parts":[[2015,9,28]],"date-time":"2015-09-28T08:51:10Z","timestamp":1443430270000},"page":"1226-1235","source":"Crossref","is-referenced-by-count":25,"title":["Rare Variants in<i>PLD3<\/i>Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort"],"prefix":"10.1155","volume":"36","author":[{"given":"Rita","family":"Cacace","sequence":"first","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobi","family":"Van den Bossche","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"},{"name":"Department of Neurology; Antwerp University Hospital (UZA); Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiaan","family":"Engelborghs","sequence":"additional","affiliation":[{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"},{"name":"Department of Neurology and Memory Clinic; Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Geerts","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies","family":"Laureys","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubina","family":"Dillen","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Graff","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Care Sciences and Society (NVS), Center for Alzheimer Research; Division of Neurogeriatrics, Karolinska Institutet; Huddinge Sweden"},{"name":"Department of Geriatric Medicine, Genetics Unit; Karolinska University Hospital; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e5kan","family":"Thonberg","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Care Sciences and Society (NVS), Center for Alzheimer Research; Division of Neurogeriatrics, Karolinska Institutet; Huddinge Sweden"},{"name":"Department of Geriatric Medicine, Genetics Unit; Karolinska University Hospital; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huei-Hsin","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Geriatric Medicine, Genetics Unit; Karolinska University Hospital; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pau","family":"Pastor","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Division of Neurosciences; Center for Applied Medical Research, Universidad de Navarra; Pamplona Spain"},{"name":"Department of Neurology; Hospital Universitari Mutua de Terrassa; Terrassa Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Ortega-Cubero","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Division of Neurosciences; Center for Applied Medical Research, Universidad de Navarra; Pamplona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Pastor","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain"},{"name":"Neuroimaging Laboratory, Division of Neurosciences; Center for Applied Medical Research (CIMA), University of Navarra; Pamplona Spain"},{"name":"Department of Neurology, Cl\u00ednica Universidad de Navarra; University of Navarra School of Medicine; Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Diehl-Schmid","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Psychotherapy; Technische Universit\u00e4t M\u00fcnchen; M\u00fcnchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis","family":"Alexopoulos","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Psychotherapy; Technische Universit\u00e4t M\u00fcnchen; M\u00fcnchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Benussi","sequence":"additional","affiliation":[{"name":"Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Istituto Centro San Giovanni di Dio-Fatebenefratelli; Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Ghidoni","sequence":"additional","affiliation":[{"name":"Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Istituto Centro San Giovanni di Dio-Fatebenefratelli; Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliano","family":"Binetti","sequence":"additional","affiliation":[{"name":"Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Istituto Centro San Giovanni di Dio-Fatebenefratelli; Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Nacmias","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA); University of Florence; Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Sorbi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA); University of Florence; Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Sanchez-Valle","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Cl\u00ednic; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS); Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Llad\u00f3","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Cl\u00ednic; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS); Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Gelpi","sequence":"additional","affiliation":[{"name":"Neurological Tissue Bank of the Biobanc, Hospital Clinic; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS); Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Ros\u00e1rio","family":"Almeida","sequence":"additional","affiliation":[{"name":"Center for Neuroscience and Cell Biology; University of Coimbra; Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Santana","sequence":"additional","affiliation":[{"name":"Center for Neuroscience and Cell Biology; University of Coimbra; Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magda","family":"Tsolaki","sequence":"additional","affiliation":[{"name":"3 Department of Neurology, Medical School; Aristotle University of Thessaloniki; Makedonia Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Koutroumani","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry, Department of Chemistry; Aristotle University of Thessaloniki; Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Clarimon","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain"},{"name":"Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau; Universidad Aut\u00f2noma de Barcelona; Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Lle\u00f3","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain"},{"name":"Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau; Universidad Aut\u00f2noma de Barcelona; Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Fortea","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain"},{"name":"Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau; Universidad Aut\u00f2noma de Barcelona; Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"de Mendon\u00e7a","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Institute of Molecular Medicine; University of Lisbon; Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madalena","family":"Martins","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Institute of Molecular Medicine; University of Lisbon; Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Borroni","sequence":"additional","affiliation":[{"name":"Neurology Unit; University of Brescia; Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[{"name":"Neurology Unit; University of Brescia; Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radoslav","family":"Matej","sequence":"additional","affiliation":[{"name":"Center of Clinical Neurosciences, Department of Neurology, First Medical Faculty; Charles University in Prague; Czech Republic"},{"name":"Department of Pathology and Molecular Medicine; Thomayer Hospital; Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zdenek","family":"Rohan","sequence":"additional","affiliation":[{"name":"Center of Clinical Neurosciences, Department of Neurology, First Medical Faculty; Charles University in Prague; Czech Republic"},{"name":"Department of Pathology and Molecular Medicine; Thomayer Hospital; Prague Czech Republic"},{"name":"Institute of Pathology; Third Medical Faculty of Charles University in Prague; Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Vandenbulcke","sequence":"additional","affiliation":[{"name":"Department of Neurosciences; Faculty of Medicine; KU Leuven Leuven Belgium"},{"name":"Department of Old Age Psychiatry and Memory Clinic; University of Leuven; Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rik","family":"Vandenberghe","sequence":"additional","affiliation":[{"name":"Department of Neurosciences; Faculty of Medicine; KU Leuven Leuven Belgium"},{"name":"Department of Neurology; University Hospitals Leuven; Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter P.","family":"De Deyn","sequence":"additional","affiliation":[{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"},{"name":"Department of Neurology and Memory Clinic; Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Cras","sequence":"additional","affiliation":[{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"},{"name":"Department of Neurology; Antwerp University Hospital (UZA); Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"van der Zee","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristel","family":"Sleegers","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Van Broeckhoven","sequence":"additional","affiliation":[{"name":"Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium"},{"name":"Institute Born-Bunge; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Belgium Neurology (BELNEU) Consortium and the European Early-Onset Dementia (EU EOD) Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,14]]},"reference":[{"key":"10.1002\/humu.22908-BIB0001|humu22908-cit-0001","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.3233\/JAD-2010-1310","article-title":"Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association","volume":"19","author":"Bettens","year":"2010","journal-title":"J Alzheimers Dis"},{"key":"10.1002\/humu.22908-BIB0002|humu22908-cit-0002","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1073\/pnas.0510708103","article-title":"Presenilin-1 uses phospholipase D1 as a negative regulator of beta-amyloid formation","volume":"103","author":"Cai","year":"2006a","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22908-BIB0003|humu22908-cit-0003","doi-asserted-by":"crossref","first-page":"1936","DOI":"10.1073\/pnas.0510710103","article-title":"Phospholipase D1 corrects impaired betaAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons","volume":"103","author":"Cai","year":"2006b","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22908-BIB0004|humu22908-cit-0004","doi-asserted-by":"crossref","first-page":"E5","DOI":"10.1038\/nature14037","article-title":"Cruchaga & Goate reply","volume":"520","author":"Cruchaga","year":"2015a","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0005|humu22908-cit-0005","doi-asserted-by":"crossref","first-page":"E10","DOI":"10.1038\/nature14041","article-title":"Cruchaga & Goate reply","volume":"520","author":"Cruchaga","year":"2015b","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0006|humu22908-cit-0006","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/nature12825","article-title":"Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease","volume":"505","author":"Cruchaga","year":"2014","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0007|humu22908-cit-0007","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1016\/j.neurobiolaging.2015.02.014","article-title":"Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study","volume":"36","author":"Cuyvers","year":"2015","journal-title":"Neurobiol Aging"},{"key":"10.1002\/humu.22908-BIB0008|humu22908-cit-0008","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22908-BIB0009|humu22908-cit-0009","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1126\/science.1181498","article-title":"Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays","volume":"327","author":"Drmanac","year":"2010","journal-title":"Science"},{"key":"10.1002\/humu.22908-BIB0010|humu22908-cit-0010","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1136\/jnnp.74.8.1148","article-title":"Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects","volume":"74","author":"Engelborghs","year":"2003","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1002\/humu.22908-BIB0011|humu22908-cit-0011","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.neurobiolaging.2005.02.005","article-title":"Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia","volume":"27","author":"Engelborghs","year":"2006","journal-title":"Neurobiol Aging"},{"key":"10.1002\/humu.22908-BIB0012|humu22908-cit-0012","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"\u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein","year":"1975","journal-title":"J Psychiatr Res"},{"key":"10.1002\/humu.22908-BIB0013|humu22908-cit-0013","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1101\/gr.135350.111","article-title":"GENCODE: the reference human genome annotation for The ENCODE Project","volume":"22","author":"Harrow","year":"2012","journal-title":"Genome Res"},{"key":"10.1002\/humu.22908-BIB0014|humu22908-cit-0014","doi-asserted-by":"crossref","first-page":"E3","DOI":"10.1038\/nature14039","article-title":"PLD3 in non-familial Alzheimer's disease","volume":"520","author":"Heilmann","year":"2015","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0015|humu22908-cit-0015","doi-asserted-by":"crossref","first-page":"E7","DOI":"10.1038\/nature14040","article-title":"PLD3 gene variants and Alzheimer's disease","volume":"520","author":"Hooli","year":"2015","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0016|humu22908-cit-0016","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jalz.2011.10.007","article-title":"National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease","volume":"8","author":"Hyman","year":"2012","journal-title":"Alzheimers Dement"},{"key":"10.1002\/humu.22908-BIB0017|humu22908-cit-0017","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.1016\/j.cellsig.2008.07.010","article-title":"Differential regulation of apoptosis by caspase-mediated cleavage of phospholipase D isozymes","volume":"20","author":"Jang","year":"2008","journal-title":"Cell Signal"},{"key":"10.1002\/humu.22908-BIB0018|humu22908-cit-0018","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1093\/bioinformatics\/btm091","article-title":"Enhancements and modifications of primer design program Primer3","volume":"23","author":"Koressaar","year":"2007","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22908-BIB0019|humu22908-cit-0019","doi-asserted-by":"crossref","first-page":"E1","DOI":"10.1038\/nature14036","article-title":"PLD3 and sporadic Alzheimer's disease risk","volume":"520","author":"Lambert","year":"2015","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0020|humu22908-cit-0020","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22908-BIB0021|humu22908-cit-0021","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22908-BIB0022|humu22908-cit-0022","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1002\/humu.22908-BIB0023|humu22908-cit-0023","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease","volume":"34","author":"McKhann","year":"1984","journal-title":"Neurology"},{"key":"10.1002\/humu.22908-BIB0024|humu22908-cit-0024","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.jalz.2011.03.005","article-title":"The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease","volume":"7","author":"McKhann","year":"2011","journal-title":"Alzheimers Dement"},{"key":"10.1002\/humu.22908-BIB0025|humu22908-cit-0025","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-011-0910-3","article-title":"National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach","volume":"123","author":"Montine","year":"2012","journal-title":"Acta Neuropathol"},{"key":"10.1002\/humu.22908-BIB0026|humu22908-cit-0026","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.1111\/j.1742-4658.2005.04601.x","article-title":"Hu-K4 is a ubiquitously expressed type 2 transmembrane protein associated with the endoplasmic reticulum","volume":"272","author":"Munck","year":"2005","journal-title":"FEBS J"},{"key":"10.1002\/humu.22908-BIB0027|humu22908-cit-0027","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1111\/j.1532-5415.2005.53221.x","article-title":"The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment","volume":"53","author":"Nasreddine","year":"2005","journal-title":"J Am Geriatr Soc"},{"key":"10.1002\/humu.22908-BIB0028|humu22908-cit-0028","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"10.1002\/humu.22908-BIB0029|humu22908-cit-0029","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/nbt.2053","article-title":"Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing","volume":"30","author":"Reumers","year":"2012","journal-title":"Nat Biotechnol"},{"key":"10.1002\/humu.22908-BIB0030|humu22908-cit-0030","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s13195-014-0070-5","article-title":"PLD3 is accumulated on neuritic plaques in Alzheimer's disease brains","volume":"6","author":"Satoh","year":"2014","journal-title":"Alzheimers Res Ther"},{"key":"10.1002\/humu.22908-BIB0031|humu22908-cit-0031","doi-asserted-by":"crossref","first-page":"14028","DOI":"10.1038\/hgv.2014.28","article-title":"Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease","volume":"2","author":"Schulte","year":"2015","journal-title":"Human Genome Var"},{"key":"10.1002\/humu.22908-BIB0032|humu22908-cit-0032","doi-asserted-by":"crossref","first-page":"E2","DOI":"10.1038\/nature14038","article-title":"PLD3 variants in population studies","volume":"520","author":"der Lee","year":"2015","journal-title":"Nature"},{"key":"10.1002\/humu.22908-BIB0033|humu22908-cit-0033","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/humu.22244","article-title":"A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats","volume":"34","author":"der Zee","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22908-BIB0034|humu22908-cit-0034","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s00401-014-1298-7","article-title":"Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration","volume":"128","author":"der Zee","year":"2014","journal-title":"Acta Neuropathol"},{"key":"10.1002\/humu.22908-BIB0035|humu22908-cit-0035","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1101\/gr.2754005","article-title":"novoSNP, a novel computational tool for sequence variation discovery","volume":"15","author":"Weckx","year":"2005","journal-title":"Genome Res"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22908","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22908\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:06Z","timestamp":1672332966000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22908"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2015,10,14]]},"references-count":35,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22908","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10,14]]}}}