{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T06:55:00Z","timestamp":1771570500013,"version":"3.50.1"},"reference-count":11,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1016\/j.braindev.2014.10.002","type":"journal-article","created":{"date-parts":[[2014,10,27]],"date-time":"2014-10-27T17:11:18Z","timestamp":1414429878000},"page":"638-642","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy"],"prefix":"10.1016","volume":"37","author":[{"given":"Kyoko","family":"Takano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Tsuyusaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mutsumi","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rie","family":"Anzai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuko","family":"Okuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mizue","family":"Iai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumimasa","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuhiko","family":"Okabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Aida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2014.10.002_b0005","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/S1474-4422(06)70440-9","article-title":"Vanishing white matter disease","volume":"5","author":"van der Knaap","year":"2006","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.braindev.2014.10.002_b0010","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1086\/379524","article-title":"EIF2B-related disorders: antenatal onset and involvement of multiple organs","volume":"73","author":"van der Knaap","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2014.10.002_b0015","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1212\/01.WNL.0000123259.67815.DB","article-title":"The effect of genotype on the natural history of eIF2B-related leukodystrophies","volume":"62","author":"Fogli","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2014.10.002_b0020","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.molmed.2006.02.006","article-title":"Defective translation initiation causes vanishing of cerebral white matter","volume":"12","author":"Scheper","year":"2006","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.braindev.2014.10.002_b0025","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1002\/ana.10339","article-title":"Cree leukoencephalopathy and CACH\/VWM disease are allelic at the EIF2B5 locus","volume":"52","author":"Fogli","year":"2002","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2014.10.002_b0030","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.2562","article-title":"De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood","volume":"45","author":"Saitsu","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2014.10.002_b0035","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.3174\/ajnr.A2108","article-title":"Clinical and neuroimaging findings of Cree leukodystrophy: a retrospective case series","volume":"31","author":"Harder","year":"2010","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.braindev.2014.10.002_b0040","doi-asserted-by":"crossref","first-page":"e8318","DOI":"10.1371\/journal.pone.0008318","article-title":"Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders","volume":"4","author":"Horzinski","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2014.10.002_b0045","doi-asserted-by":"crossref","first-page":"8263","DOI":"10.1074\/jbc.M111.331553","article-title":"Identification of residues that underpin interactions within the eukaryotic initiation factor (eIF2) 2B complex","volume":"287","author":"Wang","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2014.10.002_b0050","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1055\/s-0032-1307456","article-title":"Characteristics of early MRI in children and adolescents with vanishing white matter","volume":"43","author":"van der Lei","year":"2012","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.braindev.2014.10.002_b0055","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/jhg.2008.10","article-title":"Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease","volume":"54","author":"Wu","year":"2009","journal-title":"J Hum Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760414002502?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760414002502?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,28]],"date-time":"2018-09-28T05:58:23Z","timestamp":1538114303000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760414002502"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["S0387760414002502"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2014.10.002","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2014.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}