{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T21:39:30Z","timestamp":1649194770890},"reference-count":17,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2009,11,1]],"date-time":"2009-11-01T00:00:00Z","timestamp":1257033600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2009,11]]},"DOI":"10.1016\/j.ejpn.2008.11.004","type":"journal-article","created":{"date-parts":[[2008,12,14]],"date-time":"2008-12-14T09:41:09Z","timestamp":1229247669000},"page":"530-533","source":"Crossref","is-referenced-by-count":0,"title":["Familial leukoencephalopathy with slowly progressive dystonia and ataxia"],"prefix":"10.1016","volume":"13","author":[{"given":"Lubov","family":"Blumkin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieta","family":"Anca-Herschkovitsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Kivity","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2008.11.004_bib1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0887-8994(00)00232-0","article-title":"Update on genetic disorders affecting white matter","volume":"24","author":"Kaye","year":"2001","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ejpn.2008.11.004_bib2","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1017\/S001216220100127X","article-title":"Magnetic resonance in childhood white matter disorders","volume":"43","author":"van der Knaap","year":"2001","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.ejpn.2008.11.004_bib3","first-page":"85","article-title":"Genetic disorders affecting white matter in the pediatric age","volume":"129","author":"Di Rocco","year":"2004","journal-title":"Am J Med"},{"key":"10.1016\/j.ejpn.2008.11.004_bib4","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/s0387-7604(02)00154-7","article-title":"Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy","volume":"25","author":"Brockmann","year":"2003","journal-title":"Brain Dev"},{"key":"10.1016\/j.ejpn.2008.11.004_bib5","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1212\/01.wnl.0000174642.32187.20","article-title":"Quantitative proton MRS of Pelizaeus\u2013Merzbacher disease: evidence of dys- and hypomyelination","volume":"65","author":"Hanefeld","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2008.11.004_bib6","series-title":"Magnetic resonance of myelination and myelin disorders","first-page":"103","article-title":"GM2 gangliosidosis","author":"van der Knaap","year":"2005"},{"key":"10.1016\/j.ejpn.2008.11.004_bib7","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1055\/s-2005-865863","article-title":"Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders","volume":"34","author":"Di Rocco","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2008.11.004_bib8","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/ana.10456","article-title":"A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate","volume":"53","author":"van der Knaap","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ejpn.2008.11.004_bib9","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2008.11.004_bib10","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1093\/brain\/awl110","article-title":"A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33\u201334","volume":"129","author":"Thiffault","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2008.11.004_bib11","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/mds.870100420","article-title":"Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance","volume":"10","author":"Bohlega","year":"1995","journal-title":"Mov Disord"},{"key":"10.1016\/j.ejpn.2008.11.004_bib12","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ymgme.2004.09.008","article-title":"White matter involvement in mitochondrial diseases","volume":"84","author":"Lerman-Sagie","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ejpn.2008.11.004_bib13","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1002\/mds.10602","article-title":"Dystonia in AIDS: report of four cases","volume":"18","author":"Factor","year":"2003","journal-title":"Mov Disord"},{"key":"10.1016\/j.ejpn.2008.11.004_bib14","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1097\/01.wco.0000084228.82329.4a","article-title":"Dystonia update","volume":"16","author":"Trost","year":"2003","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.ejpn.2008.11.004_bib15","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1002\/mds.21295","article-title":"Structural white matter abnormalities in patients with idiopathic dystonia","volume":"22","author":"Bonilha","year":"2007","journal-title":"Mov Disord"},{"key":"10.1016\/j.ejpn.2008.11.004_bib16","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/mds.21806","article-title":"Microstructural white matter changes in primary torsion dystonia","volume":"23","author":"Carbon","year":"2008","journal-title":"Mov Disord"},{"key":"10.1016\/j.ejpn.2008.11.004_bib17","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1097\/01.wnr.0000230500.03330.01","article-title":"White matter abnormalities in dystonia normalize after botulinum toxin treatment","volume":"17","author":"Blood","year":"2006","journal-title":"Neuroreport"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379808002122?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379808002122?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,23]],"date-time":"2018-12-23T16:28:58Z","timestamp":1545582538000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379808002122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["S1090379808002122"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2008.11.004","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2009,11]]}}}