{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:21:26Z","timestamp":1761733286478,"version":"build-2065373602"},"reference-count":15,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2011,1]]},"DOI":"10.1016\/j.ejmg.2010.09.011","type":"journal-article","created":{"date-parts":[[2010,10,2]],"date-time":"2010-10-02T05:24:39Z","timestamp":1285997079000},"page":"73-75","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Neuropathy in Wolfram syndrome"],"prefix":"10.1016","volume":"54","author":[{"given":"St\u00e9phane","family":"Mathis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Maisonobe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Philippe","family":"Neau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2010.09.011_bib1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ajmg.10345","article-title":"Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan","volume":"115","author":"Ajlouni","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.09.011_bib2","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/S0140-6736(95)92473-6","article-title":"Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome","volume":"346","author":"Barrett","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2010.09.011_bib3","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.2337\/dc07-0380","article-title":"Microvascular diabetic complications in Wolfram syndrome (DIDMOAD): an age- and duration-matched comparison with common type 1 diabetes","volume":"30","author":"Cano","year":"2007","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ejmg.2010.09.011_bib4","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1136\/pgmj.63.746.1109","article-title":"DIDMOAD syndrome in a Chinese male with HLA DR7 DRw12","volume":"63","author":"Chan","year":"1987","journal-title":"Postgrad. Med. J."},{"key":"10.1016\/j.ejmg.2010.09.011_bib5","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1212\/WNL.43.4.817","article-title":"The prevalence by staged severity of various types of diabetic neuropathy, retinopathy, and nephropathy in a population-based cohort: the Rochester diabetic neuropathy study","volume":"43","author":"Dyck","year":"1993","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2010.09.011_bib6","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1136\/jmg.38.11.e37","article-title":"Wolfram syndrome: a clinical and molecular genetic analysis","volume":"38","author":"Eller","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.09.011_bib7","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1007\/s002340050832","article-title":"MRI of Wolfram syndrome (DIDMOAD)","volume":"41","author":"Galluzzi","year":"1999","journal-title":"Neuroradiology"},{"key":"10.1016\/j.ejmg.2010.09.011_bib8","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1093\/hmg\/ddg214","article-title":"Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product","volume":"12","author":"Hofmann","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2010.09.011_bib9","doi-asserted-by":"crossref","first-page":"472","DOI":"10.2337\/diacare.29.02.06.dc05-2049","article-title":"Bowel dysfunction in Wolfram syndrome","volume":"29","author":"Liu","year":"2006","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ejmg.2010.09.011_bib10","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0035-3787(07)90391-4","article-title":"Wolfram\u2019s syndrome presenting as a cerebellous ataxia","volume":"163","author":"Mathis","year":"2006","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.ejmg.2010.09.011_bib11","doi-asserted-by":"crossref","first-page":"S30","DOI":"10.1681\/ASN.2004110970","article-title":"Pathogenic mechanisms of diabetic nephropathy","volume":"16","author":"Schena","year":"2005","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ejmg.2010.09.011_bib12","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ana.410390312","article-title":"Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy","volume":"39","author":"Scolding","year":"1996","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2010.09.011_bib13","doi-asserted-by":"crossref","first-page":"5635","DOI":"10.1016\/j.febslet.2006.09.007","article-title":"WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum","volume":"580","author":"Takei","year":"2006","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ejmg.2010.09.011_bib14","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1136\/jnnp.65.5.620","article-title":"Diabetes mellitus and the nervous system","volume":"65","author":"Watkins","year":"1998","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ejmg.2010.09.011_bib15","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1016\/j.exer.2006.06.010","article-title":"Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey","volume":"83","author":"Yamamoto","year":"2006","journal-title":"Exp. Eye Res."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210001072?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210001072?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:39Z","timestamp":1761709059000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721210001072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["S1769721210001072"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.09.011","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2011,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuropathy in Wolfram syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.09.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}