{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T23:08:20Z","timestamp":1765667300080},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2020,5,2]],"date-time":"2020-05-02T00:00:00Z","timestamp":1588377600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,5,2]],"date-time":"2020-05-02T00:00:00Z","timestamp":1588377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1007\/s12031-020-01550-7","type":"journal-article","created":{"date-parts":[[2020,5,2]],"date-time":"2020-05-02T15:02:18Z","timestamp":1588431738000},"page":"1354-1356","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation"],"prefix":"10.1007","volume":"70","author":[{"given":"Patrick W.","family":"Cullinane","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Marnane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,5,2]]},"reference":[{"key":"1550_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-016-0028-x","volume":"7","author":"E Gilbert","year":"2017","unstructured":"Gilbert E, Carmi S, Ennis S, Wilson JF, Cavalleri GL (2017) Genomic insights into the population structure and history of the Irish travellers. Sci Rep 7:1\u201312","journal-title":"Sci Rep"},{"key":"1550_CR2","doi-asserted-by":"publisher","first-page":"1185","DOI":"10.1038\/ng.3661","volume":"48","author":"EM Jenkinson","year":"2016","unstructured":"Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O\u2019Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Bara\u00f1ano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Louren\u00e7o CM, Malpas TJ, Mehta SG, Metz I, Naidu S, \u00d5unap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CEG, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, Van Der Knaap MS, Livingston JH, O\u2019Keefe RT, Crow YJ (2016) Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet 48:1185\u20131192","journal-title":"Nat Genet"},{"key":"1550_CR3","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1055\/s-0033-1364180","volume":"45","author":"J Livingston","year":"2014","unstructured":"Livingston J, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli D, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap M, van Esch H, van Mol C, Wakeling E, Whitney A, Rice G, Crow Y (2014) Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics 45:175\u2013182","journal-title":"Neuropediatrics"},{"key":"1550_CR4","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1136\/jmedgenet-2017-104974","volume":"55","author":"SA Lynch","year":"2018","unstructured":"Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O\u2019Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J (2018) Catalogue of inherited disorders found among the Irish Traveller population. J Med Genet 55:233\u2013239","journal-title":"J Med Genet"},{"key":"1550_CR5","doi-asserted-by":"publisher","first-page":"e7597","DOI":"10.1097\/MD.0000000000007597","volume":"96","author":"Y Ma","year":"2017","unstructured":"Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, Huang D, Yu S (2017) Leukoencephalopathy with calcifications and cysts: a case report. Medicine (Baltimore) 96:e7597","journal-title":"Medicine (Baltimore)"},{"key":"1550_CR6","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1111\/cge.13016","volume":"92","author":"M McGovern","year":"2017","unstructured":"McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM (2017) Novel COL4A2 variant in a large pedigree: consequences and dilemmas. Clin Genet 92:447\u2013448","journal-title":"Clin Genet"},{"key":"1550_CR7","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.jns.2016.09.048","volume":"370","author":"M Wang","year":"2016","unstructured":"Wang M, Zhang M, Wu L, Dong Z, Yu S (2016) Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review. J Neurol Sci 370:173\u2013179","journal-title":"J Neurol Sci"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01550-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01550-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01550-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T18:31:42Z","timestamp":1620066702000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01550-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,2]]},"references-count":7,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["1550"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01550-7","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,2]]},"assertion":[{"value":"21 September 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 April 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The participating family gave informed consent for the publication of this case report.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}