{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:27:33Z","timestamp":1759336053063,"version":"build-2065373602"},"reference-count":23,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007797","name":"Helsingin Yliopisto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007797","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004092","name":"Kuopion Yliopistollinen Sairaala","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008376","name":"Helsingin ja Uudenmaan Sairaanhoitopiiri","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008376","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1016\/j.neurobiolaging.2014.01.149","type":"journal-article","created":{"date-parts":[[2014,2,5]],"date-time":"2014-02-05T14:31:38Z","timestamp":1391610698000},"page":"1780.e13-1780.e17","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["The C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation"],"prefix":"10.1016","volume":"35","author":[{"given":"Eino","family":"Solje","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4ivi","family":"Hartikainen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miko","family":"Valori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritva","family":"Vanninen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jari","family":"Tiihonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panu","family":"Hakola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pentti J.","family":"Tienari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Remes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/ng0595-61","article-title":"Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase","volume":"10","author":"Andersen","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib3","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib4","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1136\/jnnp.2009.192310","article-title":"Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD mutations pathogenic?","volume":"81","author":"Felbecker","year":"2010","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib5","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1056\/NEJMoa1211851","article-title":"TREM2 variants in Alzheimer's disease","volume":"368","author":"Guerreiro","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib6","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1007\/BF00340444","article-title":"A\u00a0new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases","volume":"6","author":"Hakola","year":"1973","journal-title":"Neuroradiology"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib7","first-page":"1","article-title":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study","volume":"17","author":"Hakola","year":"1990","journal-title":"Monogr. Psych. Fenn."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib8","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1136\/jnnp-2012-303507","article-title":"Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis","volume":"84","author":"Irwin","year":"2013","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib9","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJMoa1211103","article-title":"Variant of TREM2 associated with the risk of Alzheimer's disease","volume":"368","author":"Jonsson","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib10","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.nbd.2004.09.007","article-title":"Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS","volume":"18","author":"Kiialainen","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib11","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S0167-5699(00)01745-X","article-title":"The ITAM-bearing transmembrane adaptor DAP12 in lymphoid and myeloid cell function","volume":"21","author":"Lanier","year":"2000","journal-title":"Immunol. Today"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib12","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":"10.1016\/j.neurobiolaging.2014.01.149_bib13","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/alzrt144","article-title":"Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions","volume":"4","author":"Mahoney","year":"2012","journal-title":"Alzheimers Res. Ther."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib14","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":"10.1016\/j.neurobiolaging.2014.01.149_bib15","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib16","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1212\/WNL.56.11.1552","article-title":"CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts","volume":"56","author":"Paloneva","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib17","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/77153","article-title":"Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts","volume":"25","author":"Paloneva","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib18","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1086\/342259","article-title":"Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype","volume":"71","author":"Paloneva","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib19","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A\u00a0hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib20","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/j.1440-1789.2010.01174.x","article-title":"Immunohistochemical characterization of microglia in Nasu-Hakola disease brains","volume":"31","author":"Satoh","year":"2011","journal-title":"Neuropathology"},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib21","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/hmg\/8.2.345","article-title":"A\u00a0novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)","volume":"8","author":"Serratosa","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib22","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.jneuroim.2008.10.005","article-title":"No evidence for shared etiology in two demyelinative disorders, MS and PLOSL","volume":"206","author":"Sulonen","year":"2009","journal-title":"J.\u00a0Neuroimmunol."},{"key":"10.1016\/j.neurobiolaging.2014.01.149_bib23","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458014001717?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458014001717?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:22:26Z","timestamp":1759317746000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458014001717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7]]},"references-count":23,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["S0197458014001717"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2014.01.149","relation":{},"ISSN":["0197-4580"],"issn-type":[{"type":"print","value":"0197-4580"}],"subject":[],"published":{"date-parts":[[2014,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2014.01.149","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}