{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:11:52Z","timestamp":1791187912057,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2006,6,30]],"date-time":"2006-06-30T00:00:00Z","timestamp":1151625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2006,6,30]],"date-time":"2006-06-30T00:00:00Z","timestamp":1151625600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A family with dystonia associated with dyschromatosis symmetrica hereditaria (DSH), mental deterioration, and tissue calcification is described. The proband possessed an adenosine deaminase acting on the RNA 1 gene (\n                    <jats:italic>ADAR1<\/jats:italic>\n                    ) mutation Gly1007Arg. This\n                    <jats:italic>ADAR1<\/jats:italic>\n                    mutation could disturb RNA editing at Q\/R sites of glutamate receptor in the brain and increase Ca\n                    <jats:sup>2+<\/jats:sup>\n                    influx into neurons, which is thought to induce dystonia and mental deterioration. The observations in our family raise the possibility that the\n                    <jats:italic>ADAR1<\/jats:italic>\n                    mutation might be a direct cause or a predisposing factor for heredodegenerative dystonia. Further investigation of\n                    <jats:italic>ADAR1<\/jats:italic>\n                    mutations will shed light on the genotype\u2013phenotype correlation in DSH. \u00a9 2006 Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.21011","type":"journal-article","created":{"date-parts":[[2006,6,30]],"date-time":"2006-06-30T18:19:10Z","timestamp":1151691550000},"page":"1510-1513","source":"Crossref","is-referenced-by-count":59,"title":["Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with\n                    <i>ADAR1<\/i>\n                    mutation"],"prefix":"10.1002","volume":"21","author":[{"given":"Kana","family":"Tojo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiki","family":"Sekijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiro","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu\u2010ichi","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,6,30]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_4_3_2","first-page":"299","article-title":"A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis","volume":"41","author":"Tojyo K","year":"2001","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_4_4_2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.2340\/0001555574138139","article-title":"Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report","volume":"74","author":"Patrizi A","year":"1994","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/378209"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23732.x"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.02716.x"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.3.1389"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90622-W"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9861(19970324)379:4<541::AID-CNE6>3.0.CO;2-2"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/exnr.2002.7932"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-2999(93)90462-Q"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5497.1765"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-004-0599-z"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)65331-X"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1049"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21011","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21011","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.21011","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T19:12:18Z","timestamp":1786475538000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,30]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1002\/mds.21011"],"URL":"https:\/\/doi.org\/10.1002\/mds.21011","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,30]]}}}