{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T17:16:47Z","timestamp":1747156607471,"version":"3.40.5"},"reference-count":9,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1016\/j.braindev.2018.05.012","type":"journal-article","created":{"date-parts":[[2018,6,12]],"date-time":"2018-06-12T08:24:07Z","timestamp":1528791847000},"page":"819-823","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene"],"prefix":"10.1016","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1620-262X","authenticated-orcid":false,"given":"Tatsuharu","family":"Sato","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Moriyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohei","family":"Haraguchi","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":"Hiroyuki","family":"Moriuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2018.05.012_b0005","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1083\/jcb.105.4.1707","article-title":"In vivo microtubules are copolymers of available beta-tubulin isotypes: localization of each of six vertebrate beta-tubulin isotypes using polyclonal antibodies elicited by synthetic peptide antigens","volume":"105","author":"Lopata","year":"1987","journal-title":"J Cell Biol"},{"key":"10.1016\/j.braindev.2018.05.012_b0010","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3389\/fnins.2015.00181","article-title":"Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias","volume":"9","author":"Kato","year":"2015","journal-title":"Front Neurosci"},{"key":"10.1016\/j.braindev.2018.05.012_b0015","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.braindev.2014.06.002","article-title":"Mutations in \u03b1- and \u03b2-tubulin encoding genes: implications in brain malformations","volume":"37","author":"Romaniello","year":"2015","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2018.05.012_b0020","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1093\/brain\/awu082","article-title":"The wide spectrum of tubulinopathies: what are the key features for the diagnosis?","volume":"137","author":"Bahi-Buisson","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2018.05.012_b0025","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/jhg.2017.24","article-title":"ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome","volume":"62","author":"Miyatake","year":"2017","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2018.05.012_b0030","doi-asserted-by":"crossref","first-page":"528","DOI":"10.3174\/ajnr.A4552","article-title":"Disorders of microtubule function in neurons: imaging correlates","volume":"37","author":"Mutch","year":"2016","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.braindev.2018.05.012_b0035","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1093\/hmg\/ddq182","article-title":"TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins","volume":"19","author":"Kumar","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2018.05.012_b0040","doi-asserted-by":"crossref","first-page":"15165","DOI":"10.1038\/srep15165","article-title":"TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis","volume":"5","author":"Yokoi","year":"2015","journal-title":"Sci Rep"},{"key":"10.1016\/j.braindev.2018.05.012_b0045","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1091\/mbc.e07-09-0861","article-title":"A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB","volume":"19","author":"Tian","year":"2008","journal-title":"Mol Bio Cell"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418302250?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418302250?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T14:57:45Z","timestamp":1534777065000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760418302250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["S0387760418302250"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2018.05.012","relation":{},"ISSN":["0387-7604"],"issn-type":[{"type":"print","value":"0387-7604"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2018.05.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}