{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T07:12:35Z","timestamp":1777705955148,"version":"3.51.4"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Molecular Genetics"],"DOI":"10.1093\/hmg\/ddn124","type":"journal-article","created":{"date-parts":[[2008,4,19]],"date-time":"2008-04-19T00:14:05Z","timestamp":1208564045000},"page":"2238-2243","source":"Crossref","is-referenced-by-count":95,"title":["A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome"],"prefix":"10.1093","volume":"17","author":[{"given":"A.","family":"Balreira","sequence":"first","affiliation":[]},{"given":"P.","family":"Gaspar","sequence":"additional","affiliation":[]},{"given":"D.","family":"Caiola","sequence":"additional","affiliation":[]},{"given":"J.","family":"Chaves","sequence":"additional","affiliation":[]},{"given":"I.","family":"Beirao","sequence":"additional","affiliation":[]},{"given":"J. L.","family":"Lima","sequence":"additional","affiliation":[]},{"given":"J. E.","family":"Azevedo","sequence":"additional","affiliation":[]},{"given":"M. C. S.","family":"Miranda","sequence":"additional","affiliation":[]}],"member":"286","published-online":{"date-parts":[[2008,4,15]]},"reference":[{"issue":"1","key":"1_15898606","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/0888-7543(95)80114-2","volume":"25","author":"Calvo","year":"1995","journal-title":"Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"},{"issue":"6","key":"2_11323029","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1172\/JCI200114006","volume":"108","author":"Febbraio","year":"2001","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"6","key":"3_11323030","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1172\/JCI200114011","volume":"108","author":"Krieger","year":"2001","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"2","key":"4_9816824","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/0006-291X(92)90632-U","volume":"184","author":"Fujita","year":"1992","journal-title":"Biochemical and biophysical research communications","ISSN":"https:\/\/id.crossref.org\/issn\/0006-291X","issn-type":"print"},{"issue":"32","key":"5_9621149","doi-asserted-by":"crossref","first-page":"21327","DOI":"10.1016\/S0021-9258(18)54636-6","volume":"266","author":"Fukuda","year":"1991","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"3","key":"6_17533590","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/S0962-8924(03)00005-9","volume":"13","author":"Eskelinen","year":"2003","journal-title":"Trends in cell biology","ISSN":"https:\/\/id.crossref.org\/issn\/0962-8924","issn-type":"print"},{"issue":"7","key":"7_14678925","doi-asserted-by":"crossref","first-page":"5210","DOI":"10.1016\/S0021-9258(17)37676-7","volume":"269","author":"Ogata","year":"1994","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"9","key":"8_14686871","doi-asserted-by":"crossref","first-page":"6622","DOI":"10.1016\/S0021-9258(17)37418-5","volume":"269","author":"Sandoval","year":"1994","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"6","key":"9_17526870","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1093\/hmg\/ddg062","volume":"12","author":"Gamp","year":"2003","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"21","key":"10_17263453","doi-asserted-by":"publisher","first-page":"4117","DOI":"10.1242\/jcs.00075","volume":"115","author":"Kuronita","year":"2002","journal-title":"Journal of Cell Science","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9533","issn-type":"print"},{"key":"11_31369495","first-page":"770","volume":"131","year":"2007","ISSN":"https:\/\/id.crossref.org\/issn\/1097-4172","issn-type":"print"},{"issue":"1","key":"13_22466306","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1113\/jphysiol.2006.116889","volume":"576","year":"2006","journal-title":"The Journal of Physiology","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3751","issn-type":"print"},{"issue":"9","key":"14_22689851","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1002\/mds.20984","volume":"21","author":"Canafoglia","year":"2006","journal-title":"Movement disorders : official journal of the Movement Disorder Society","ISSN":"https:\/\/id.crossref.org\/issn\/0885-3185","issn-type":"print"},{"issue":"2","key":"15_7932936","first-page":"151","volume":"49","author":"Kunishita","year":"1979","journal-title":"The Japanese journal of experimental medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0021-5031","issn-type":"print"},{"issue":"3","key":"16_17509328","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1203\/01.PDR.0000049515.79882.94","volume":"53","year":"2003","journal-title":"Pediatric Research","ISSN":"https:\/\/id.crossref.org\/issn\/0031-3998","issn-type":"print"},{"issue":"4","key":"17_17813446","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","volume":"64","author":"Vanier","year":"2003","journal-title":"Clinical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"issue":"4-5","key":"18_9852237","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1159\/000112178","volume":"13","author":"Vanier","year":"1991","journal-title":"Developmental neuroscience","ISSN":"https:\/\/id.crossref.org\/issn\/0378-5866","issn-type":"print"},{"issue":"3","key":"19_14695040","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1172\/JCI117084","volume":"93","author":"Hollak","year":"1994","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"3","key":"20_9151127","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1111\/j.1432-1033.1990.tb19173.x","volume":"191","author":"Van Weely","year":"1990","journal-title":"FEBS Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0014-2956","issn-type":"print"},{"issue":"16","key":"21_19297898","doi-asserted-by":"publisher","first-page":"2387","DOI":"10.1093\/hmg\/ddi240","volume":"14","year":"2005","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"25","key":"22_9563500","doi-asserted-by":"crossref","first-page":"16818","DOI":"10.1016\/S0021-9258(18)55375-8","volume":"266","author":"Vega","year":"1991","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"2","key":"23_6448239","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S","volume":"15","author":"Stone","year":"2000","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"6377","key":"24_9847603","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/357407a0","volume":"357","author":"Tybulewicz","year":"1992","journal-title":"Nature; Physical Science (London)","ISSN":"https:\/\/id.crossref.org\/issn\/1476-4687","issn-type":"print"},{"issue":"2","key":"25_13581176","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0272-6386(85)80150-5","volume":"6","author":"Jennette","year":"1985","journal-title":"American journal of kidney diseases : the official journal of the National Kidney Foundation","ISSN":"https:\/\/id.crossref.org\/issn\/0272-6386","issn-type":"print"},{"issue":"3","key":"26_30586585","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","volume":"82","author":"Berkovic","year":"2008","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"3","key":"27_9068024","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/j.1432-1033.1983.tb07606.x","volume":"134","author":"Barneveld","year":"1983","journal-title":"FEBS Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0014-2956","issn-type":"print"},{"issue":"2","key":"28_13360301","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1159\/000469457","volume":"32","author":"Magalh\u00a0\u00a0es","year":"1984","journal-title":"Enzyme","ISSN":"https:\/\/id.crossref.org\/issn\/0013-9432","issn-type":"print"},{"issue":"2-3","key":"29_13335484","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/0009-8981(84)90003-2","volume":"141","author":"Magalh\u00a0\u00a0es","year":"1984","journal-title":"Clinica Chimica Acta","ISSN":"https:\/\/id.crossref.org\/issn\/0009-8981","issn-type":"print"},{"issue":"2","key":"30_18010439","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","volume":"12","author":"Pinto","year":"2004","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"3","key":"31_9205642","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1399-0004.1990.tb03573.x","volume":"38","author":"Sa Miranda","year":"1990","journal-title":"Clinical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"key":"32_4058442","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","volume":"72","author":"Bradford","year":"1976","journal-title":"Analytical biochemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0003-2697","issn-type":"print"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/17\/14\/2238\/2745771\/ddn124.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T14:30:39Z","timestamp":1631111439000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddn124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,15]]},"references-count":31,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2008,4,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddn124","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,15]]}}}