{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:08:05Z","timestamp":1787018885178,"version":"build-2736575974"},"reference-count":8,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T00:00:00Z","timestamp":1401148800000},"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":[[2015,3]]},"abstract":"<jats:p>\n                    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding iPLA\n                    <jats:sub>2<\/jats:sub>\n                    -VI, a calcium-independent phospholipase, have been identified in these children. In classic infantile neuroaxonal dystrophy\u2013affected children, psychomotor regression is the most frequent presentation, usually with ataxia and optic atrophy, followed by the development of tetraparesis. We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype.\n                  <\/jats:p>","DOI":"10.1177\/0883073814535493","type":"journal-article","created":{"date-parts":[[2014,5,28]],"date-time":"2014-05-28T23:46:00Z","timestamp":1401320760000},"page":"368-370","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset"],"prefix":"10.1177","volume":"30","author":[{"given":"Carlo","family":"Fusco","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Frattini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celeste","family":"Panteghini","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Pascarella","sequence":"additional","affiliation":[{"name":"Neurodiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,5,27]]},"reference":[{"key":"bibr1-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076831"},{"key":"bibr2-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1038\/ng1826"},{"key":"bibr3-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000310986.48286.8e"},{"key":"bibr4-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061929"},{"key":"bibr5-0883073814535493","first-page":"465","volume":"13","author":"Seven M","year":"2002","journal-title":"Genet Couns"},{"key":"bibr6-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280124"},{"key":"bibr7-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2008.01.005"},{"key":"bibr8-0883073814535493","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000327094.67726.28"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814535493","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073814535493","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814535493","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:58Z","timestamp":1777495018000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073814535493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,27]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1177\/0883073814535493"],"URL":"https:\/\/doi.org\/10.1177\/0883073814535493","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,27]]}}}