{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T16:56:34Z","timestamp":1758473794517},"reference-count":19,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,7,1]],"date-time":"2015-07-01T00:00:00Z","timestamp":1435708800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","ejpn-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2015,7]]},"DOI":"10.1016\/j.ejpn.2015.02.005","type":"journal-article","created":{"date-parts":[[2015,3,3]],"date-time":"2015-03-03T04:47:37Z","timestamp":1425358057000},"page":"472-476","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder"],"prefix":"10.1016","volume":"19","author":[{"given":"Lubov","family":"Blumkin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teisha","family":"Bradshaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Michelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tal","family":"Kopler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dvir","family":"Dahari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Paul","family":"Chapple","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Leshinsky-Silver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2015.02.005_bib1","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s10048-008-0131-7","article-title":"ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia","volume":"9","author":"Vermeer","year":"2008","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ejpn.2015.02.005_bib2","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1212\/WNL.0b013e3181f4d86c","article-title":"Mutations in SACS cause atypical and late-onset forms of ARSACS","volume":"75","author":"Baets","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2015.02.005_bib3","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1017\/S0317167100024793","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"5","author":"Bouchard","year":"1978","journal-title":"Canad J Neurol Sci"},{"key":"10.1016\/j.ejpn.2015.02.005_bib4","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.3174\/ajnr.A0603","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients","volume":"28","author":"Martin","year":"2007","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.ejpn.2015.02.005_bib5","first-page":"1871","article-title":"Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients","volume":"17","author":"Pablo","year":"2011","journal-title":"Mol Vis"},{"key":"10.1016\/j.ejpn.2015.02.005_bib6","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/72769","article-title":"ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF","volume":"24","author":"Engert","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2015.02.005_bib7","series-title":"GeneReviews [Internet]","article-title":"ARSACS","author":"Vermeer","year":"2012"},{"key":"10.1016\/j.ejpn.2015.02.005_bib8","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1212\/01.WNL.0000166031.91514.B3","article-title":"A phenotype without spasticity in sacsin-related ataxia","volume":"64","author":"Shimazaki","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2015.02.005_bib9","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/j.1440-1789.2006.00664.x","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","volume":"26","author":"Takiyama","year":"2006","journal-title":"Neuropathology"},{"key":"10.1016\/j.ejpn.2015.02.005_bib10","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/1750-1172-8-41","article-title":"Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum","volume":"8","author":"Synofzik","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ejpn.2015.02.005_bib11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1212\/01.WNL.0000099371.14478.73","article-title":"Identification of a SACS gene missense mutation in ARSACS","volume":"62","author":"Ogawa","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2015.02.005_bib12","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1212\/01.WNL.0000104491.66816.77","article-title":"Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type","volume":"62","author":"Grieco","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2015.02.005_bib13","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1468-1331.2012.03815.x","article-title":"Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series","volume":"20","author":"Prodi","year":"2013","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.ejpn.2015.02.005_bib14","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/humu.22269","article-title":"Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture","volume":"34","author":"Romano","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejpn.2015.02.005_bib15","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1093\/hmg\/ddp067","article-title":"The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1","volume":"18","author":"Parfitt","year":"2009","journal-title":"Hum Molec Genet"},{"key":"10.1016\/j.ejpn.2015.02.005_bib16","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1073\/pnas.1113166109","article-title":"Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix\u2013Saguenay (ARSACS)","volume":"109","author":"Girard","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ejpn.2015.02.005_bib17","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1038\/ejhg.2008.58","article-title":"A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of CharlevoixeSaguenay","volume":"16","author":"Breckpot","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejpn.2015.02.005_bib18","doi-asserted-by":"crossref","first-page":"7137","DOI":"10.1167\/iovs.13-12726","article-title":"Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay","volume":"54","author":"Garcia-Martin","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ejpn.2015.02.005_bib19","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/bjophthalmol-2013-304534","article-title":"Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes","volume":"98","author":"Yu-Wai-Man","year":"2014","journal-title":"Br J Ophthalmol"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379815000392?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379815000392?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T14:14:33Z","timestamp":1566396873000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379815000392"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["S1090379815000392"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2015.02.005","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2015,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2015.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}