{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T06:00:48Z","timestamp":1794031248659,"version":"4.8.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis","Orphanet Journal of Rare Diseases"],"published-print":{"date-parts":[[2014]]},"DOI":"10.1186\/1750-1172-9-15","type":"journal-article","created":{"date-parts":[[2014,1,28]],"date-time":"2014-01-28T08:01:13Z","timestamp":1390896073000},"page":"15","source":"Crossref","is-referenced-by-count":182,"title":["A novel recurrent mutation in ATP1A3 causes CAPOS syndrome"],"prefix":"10.1186","volume":"9","author":[{"given":"Michelle K","family":"Demos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara DM","family":"van Karnebeek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin JD","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelin","family":"Adam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaoqing","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shing Hei","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casper","family":"Shyr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven JM","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the FORGE Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"10.1186\/1750-1172-9-15-B1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.419"},{"key":"10.1186\/1750-1172-9-15-B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.018"},{"key":"10.1186\/1750-1172-9-15-B6","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"10.1186\/1750-1172-9-15-B8","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-9-r84"},{"key":"10.1186\/1750-1172-9-15-B13","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biophys.093008.131331"},{"key":"10.1186\/1750-1172-9-15-B14","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-1039-9"},{"key":"10.1186\/1750-1172-9-15-B15","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61090-3"},{"key":"10.1186\/1750-1172-9-15-B16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.019"},{"key":"10.1186\/1750-1172-9-15-B17","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2767"},{"key":"10.1186\/1750-1172-9-15-B18","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2004.06.028"},{"key":"10.1186\/1750-1172-9-15-B19","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl340"},{"key":"10.1186\/1750-1172-9-15-B20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp170"},{"key":"10.1186\/1750-1172-9-15-B21","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2358"},{"key":"10.1186\/1750-1172-9-15-B22","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70182-5"},{"key":"10.1186\/1750-1172-9-15-B24","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70185-0"},{"key":"10.1186\/1750-1172-9-15-B25","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq557"},{"key":"10.1186\/1750-1172-9-15-B26","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-008-0152-9"},{"key":"10.1186\/1750-1172-9-15-B27","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2"},{"key":"10.1186\/1750-1172-9-15-B28","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"10.1186\/1750-1172-9-15-B29","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","deposited":{"date-parts":[[2016,5,16]],"date-time":"2016-05-16T17:14:34Z","timestamp":1463418874000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-9-15"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014]]}},"alternative-id":["1750-1172-9-15"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-9-15","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"print"}],"subject":[],"published":{"date-parts":[[2014]]}}}