{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T05:08:00Z","timestamp":1782536880514,"version":"3.54.5"},"reference-count":13,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2013,4,26]],"date-time":"2013-04-26T00:00:00Z","timestamp":1366934400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor ( VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.<\/jats:p>","DOI":"10.1177\/0883073813485637","type":"journal-article","created":{"date-parts":[[2013,4,26]],"date-time":"2013-04-26T20:36:47Z","timestamp":1367008607000},"page":"860-864","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts"],"prefix":"10.1177","volume":"29","author":[{"given":"Iman S.","family":"Abumansour","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Wrogemann","sequence":"additional","affiliation":[{"name":"Department of Radiology, University of Manitoba, Winnipeg, MB, Canada"},{"name":"Department of Pediatrics and Child Health, Children\u2019s Hospital, University of Manitoba, Winnipeg, MB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert E.","family":"Chudley","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada"},{"name":"Department of Pediatrics and Child Health, Children\u2019s Hospital, University of Manitoba, Winnipeg, MB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard N.","family":"Chodirker","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada"},{"name":"Department of Pediatrics and Child Health, Children\u2019s Hospital, University of Manitoba, Winnipeg, MB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Salman","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology, University of Manitoba, Winnipeg, MB, Canada"},{"name":"Department of Pediatrics and Child Health, Children\u2019s Hospital, University of Manitoba, Winnipeg, MB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,4,26]]},"reference":[{"key":"bibr1-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-010-0176-5"},{"key":"bibr2-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000333256.74903.94"},{"key":"bibr3-0883073813485637","doi-asserted-by":"crossref","unstructured":"Friocourt G, Marcorelles P, Saugier-Veber P, Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011;121:149\u2013170.","DOI":"10.1007\/s00401-010-0768-9"},{"key":"bibr4-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-009-0823-9"},{"key":"bibr5-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq182"},{"key":"bibr6-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.11.017"},{"key":"bibr7-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1038\/79246"},{"key":"bibr8-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1086\/444400"},{"key":"bibr9-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30392"},{"key":"bibr10-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31667"},{"key":"bibr11-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0232-y"},{"key":"bibr12-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162205001404"},{"key":"bibr13-0883073813485637","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090109"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813485637","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813485637","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813485637","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:38:02Z","timestamp":1777495082000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813485637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,26]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1177\/0883073813485637"],"URL":"https:\/\/doi.org\/10.1177\/0883073813485637","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,26]]}}}