{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:42:00Z","timestamp":1784554920166,"version":"3.55.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"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":["Brain and Development"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1016\/j.braindev.2013.06.005","type":"journal-article","created":{"date-parts":[[2013,7,9]],"date-time":"2013-07-09T01:15:31Z","timestamp":1373332531000},"page":"388-393","source":"Crossref","is-referenced-by-count":8,"title":["Nationwide survey of Arima syndrome: Revised diagnostic criteria from epidemiological analysis"],"prefix":"10.1016","volume":"36","author":[{"given":"Masayuki","family":"Itoh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohsaku","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takehiko","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaharu","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Matsuzaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Ide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Arima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2013.06.005_b0005","first-page":"330","article-title":"A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital hapetoretinal dysplasia with coloboma and unilateral ptosis","volume":"3","author":"Arima","year":"1971","journal-title":"No to Hattatsu"},{"key":"10.1016\/j.braindev.2013.06.005_b0010","first-page":"1322","article-title":"A specific type of cerebro-oculo-hepato-renal syndrome: Arima syndrome, a distinct clinicopathological entity","volume":"90","author":"Matsuzaka","year":"1986","journal-title":"Nippon Shonika Gakkai Zasshi"},{"key":"10.1016\/j.braindev.2013.06.005_b0015","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1177\/088307388600100404","article-title":"Cerebro-oculo-hepato-renal syndrome (Arima\u2019s syndrome): a distinct clinicopathological entity","volume":"1","author":"Matsuzaka","year":"1986","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.braindev.2013.06.005_b0020","first-page":"486","article-title":"A case of familial cystic kidney, congenital brain disorder, retinopathy, unilateral ptosis","volume":"35","author":"Hisada","year":"1972","journal-title":"Shonika Shinryo"},{"key":"10.1016\/j.braindev.2013.06.005_b0025","first-page":"229","article-title":"Congenital polycystic kidney syndrome","volume":"5","author":"Koya","year":"1973","journal-title":"No to Hattatsu"},{"key":"10.1016\/j.braindev.2013.06.005_b0030","first-page":"890","article-title":"Three siblings associated with infantile polycystic kidney disease, tapetretinal degeneration and maldevelopment of the brain","volume":"88","author":"Kawaguchi","year":"1984","journal-title":"Nippon Shonika Gakkai Zasshi"},{"key":"10.1016\/j.braindev.2013.06.005_b0035","first-page":"596","article-title":"Cerebro-oculo-hepato-renal syndrome (Arima syndrome) with slowly progressive renal insufficiency and epilepsy","volume":"23","author":"Kubota","year":"1991","journal-title":"No to Hattatsu"},{"key":"10.1016\/j.braindev.2013.06.005_b0040","first-page":"112","article-title":"A case of Arima syndrome, with chronic renal insufficiency, treated with CAPD","volume":"20","author":"Yadoya","year":"2000","journal-title":"Nippon Shoni Jinfuzen Gakkai Zasshi"},{"key":"10.1016\/j.braindev.2013.06.005_b0045","first-page":"267","article-title":"Two cases of cerebro-oculo-hepato-renal syndrome (Arima syndrome)","volume":"24","author":"Kobayashi","year":"2004","journal-title":"Nippon Shoni Jinfuzen Gakkai Zasshi"},{"key":"10.1016\/j.braindev.2013.06.005_b0050","first-page":"731","article-title":"A case of Arima syndrome (cerebro-oculo-hepato-renal syndrome) in long-term survival with hemodialysis","volume":"48","author":"Katase","year":"2006","journal-title":"Nippon Jinzo Gakkai Zasshi"},{"key":"10.1016\/j.braindev.2013.06.005_b0055","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.braindev.2010.06.014","article-title":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma","volume":"33","author":"Takahashi","year":"2011","journal-title":"Brain Dev."},{"key":"10.1016\/j.braindev.2013.06.005_b0060","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/0002-9394(69)93443-6","article-title":"Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain","volume":"68","author":"Dekaban","year":"1969","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.braindev.2013.06.005_b0065","first-page":"1211","article-title":"Cerebello-oculo-renal syndrome (Arima syndrome)","volume":"41","author":"Matsuzaka","year":"1988","journal-title":"Shonika Rinsho"},{"key":"10.1016\/j.braindev.2013.06.005_b0070","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0070-2153(08)00605-4","article-title":"Modeling ciliopathies: primary cilia in development and disease","volume":"84","author":"Quinlan","year":"2008","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.braindev.2013.06.005_b0075","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0070-2153(08)00813-2","article-title":"Ciliary dysfunction in developmental abnormalities and diseases","volume":"85","author":"Sharma","year":"2008","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.braindev.2013.06.005_b0080","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s00467-010-1585-z","article-title":"Nephronophthisis","volume":"26","author":"Wolf","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.braindev.2013.06.005_b0085","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1111\/j.1469-8749.2011.04021.x","article-title":"The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders","volume":"53","author":"Sattar","year":"2011","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.braindev.2013.06.005_b0090","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/ng0707-818","article-title":"Clinical variability in ciliary disorders","volume":"39","author":"Mykytyn","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.braindev.2013.06.005_b0095","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ajmg.c.30229","article-title":"Clinical and molecular features of Joubert syndrome and related disorders","volume":"151C","author":"Parisi","year":"2009","journal-title":"Am. J. Med. Genet. C"},{"key":"10.1016\/j.braindev.2013.06.005_b0100","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/ajmg.a.30294","article-title":"Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes","volume":"131A","author":"Kumada","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.braindev.2013.06.005_b0105","first-page":"1257","article-title":"Arima syndrome","volume":"39","author":"Arima","year":"2007","journal-title":"Shoni Naika"},{"key":"10.1016\/j.braindev.2013.06.005_b0110","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1212\/WNL.19.9.813","article-title":"Familial agenesis of the cerebellar vermis","volume":"19","author":"Joubert","year":"1969","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2013.06.005_b0115","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.a.20437","article-title":"Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes","volume":"125A","author":"Gleeson","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.braindev.2013.06.005_b0120","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2007.11.003","article-title":"Genotypes and phenotypes of Joubert syndrome and related disorders","volume":"51","author":"Valente","year":"2008","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.braindev.2013.06.005_b0125","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1177\/088307389901401007","article-title":"Clinical nosologic and genetic aspects of Joubert and related syndromes","volume":"14","author":"Chance","year":"1999","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.braindev.2013.06.005_b0130","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1172\/JCI37041","article-title":"Mechanistic insights into Bardet\u2013Biedl syndrome, a model ciliopathy","volume":"119","author":"Zaghloul","year":"2009","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.braindev.2013.06.005_b0135","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/0002-9394(61)90147-7","article-title":"Juvenile familial nephropathy with hapetretinal degeneration","volume":"52","author":"Senior","year":"1961","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.braindev.2013.06.005_b0140","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.1320320217","article-title":"Further delineation of a syndrome of cerebellar vermis hypo\/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis","volume":"32","author":"Verloes","year":"1989","journal-title":"Am. J. Med. Genet."}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760413001952?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760413001952?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T18:29:04Z","timestamp":1539541744000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760413001952"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":28,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S0387760413001952"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2013.06.005","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5]]}}}