{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:54:26Z","timestamp":1783569266237,"version":"3.55.0"},"reference-count":10,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T00:00:00Z","timestamp":1599696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Radiology Case Reports"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.radcr.2020.09.014","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T23:33:46Z","timestamp":1600731226000},"page":"2375-2377","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["MRI findings in neuronal ceroid lipofuscinosis"],"prefix":"10.1016","volume":"15","author":[{"given":"Anna M.","family":"Crain","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deanna L.","family":"Kitchen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Godiyal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cory M.","family":"Pfeifer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.radcr.2020.09.014_bib0001","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/j.bbadis.2006.06.010","article-title":"The neuronal ceroid-lipofuscinoses: From past to present","volume":"1762","author":"Haltia","year":"2006","journal-title":"Biochim Biophys Acta - Mol Basis Dis"},{"issue":"2","key":"10.1016\/j.radcr.2020.09.014_bib0002","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ajhg.2011.07.003","article-title":"Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis","volume":"89","author":"Noskov\u00e1","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.radcr.2020.09.014_bib0003","first-page":"1","article-title":"Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies","volume":"46","author":"Top\u00e7u","year":"2005","journal-title":"Turk J Pediatr"},{"issue":"1","key":"10.1016\/j.radcr.2020.09.014_bib0004","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.ejpn.2014.07.008","article-title":"Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs","volume":"19","author":"Craiu","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"issue":"1","key":"10.1016\/j.radcr.2020.09.014_bib0005","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1086\/518902","article-title":"The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter","volume":"81","author":"Siintola","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.radcr.2020.09.014_bib0006","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1093\/brain\/awn366","article-title":"Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis","volume":"132","author":"Kousi","year":"2009","journal-title":"Brain"},{"issue":"22","key":"10.1016\/j.radcr.2020.09.014_bib0007","doi-asserted-by":"crossref","first-page":"4497","DOI":"10.1093\/hmg\/ddq381","article-title":"Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis","volume":"19","author":"Sharifi","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.radcr.2020.09.014_bib0008","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.nbd.2018.07.013","article-title":"Discovery of a CLN7 model of Batten disease in non-human primates","volume":"119","author":"McBride","year":"2018","journal-title":"Neurobiol Dis"},{"issue":"3","key":"10.1016\/j.radcr.2020.09.014_bib0009","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/humu.20975","article-title":"Mutations in MFSD8\/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis","volume":"30","author":"Aiello","year":"2009","journal-title":"Hum Mutat"},{"issue":"7","key":"10.1016\/j.radcr.2020.09.014_bib0010","first-page":"1373","article-title":"MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis","volume":"19","author":"Seitz","year":"1998","journal-title":"AJNR Am J Neuroradiol"}],"container-title":["Radiology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1930043320304829?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1930043320304829?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:53:10Z","timestamp":1761825190000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1930043320304829"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["S1930043320304829"],"URL":"https:\/\/doi.org\/10.1016\/j.radcr.2020.09.014","relation":{},"ISSN":["1930-0433"],"issn-type":[{"value":"1930-0433","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"MRI findings in neuronal ceroid lipofuscinosis","name":"articletitle","label":"Article Title"},{"value":"Radiology Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.radcr.2020.09.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington.","name":"copyright","label":"Copyright"}]}}