{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:09:03Z","timestamp":1789952943412,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T00:00:00Z","timestamp":1372809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Exome sequencing analysis has recently identified a nonsense mutation in fused in sarcoma (<jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content><\/jats:italic>) segregating with essential tremor (<jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>) within a large <jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>rench\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>anadian family. Further characterization of <jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content><\/jats:italic> resulted in the identification of additional mutations in <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patients; however, their pathogenicity still remains to be confirmed. The role of <jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content><\/jats:italic> in an independent cohort of <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patients from Canada was evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The entire coding sequence of <jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content><\/jats:italic> in 217 patients diagnosed with <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> was analyzed and two missense variants in 219 healthy controls were genotyped by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content><\/jats:italic> identified a previously reported non\u2010pathogenic mutation p.<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>174_<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>175del in one <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patient and two healthy controls, and a novel p.<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>377W in one patient with family history of disease. This mutation is highly conserved and strongly predicted to be damaging by <jats:italic>in silico<\/jats:italic> analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study has identified a novel <jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content><\/jats:italic> p.R377W substitution in <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patients. Additional genotyping studies in a large number of <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patients and controls are necessary to conclusively define its pathogenicity.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12231","type":"journal-article","created":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T12:06:46Z","timestamp":1372853206000},"page":"361-363","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Identification of <scp>FUS<\/scp> p.R377W in essential tremor"],"prefix":"10.1111","volume":"21","author":[{"given":"A.","family":"Rajput","sequence":"first","affiliation":[{"name":"Division of Neurology University of Saskatchewan and Saskatoon Health Region Saskatoon SK Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. H.","family":"Rajput","sequence":"additional","affiliation":[{"name":"Division of Neurology University of Saskatchewan and Saskatoon Health Region Saskatoon SK Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. L.","family":"Rajput","sequence":"additional","affiliation":[{"name":"Division of Neurology University of Saskatchewan and Saskatoon Health Region Saskatoon SK Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Encarnacion","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver BC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Q.","family":"Bernales","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver BC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. P.","family":"Ross","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver BC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Farrer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver BC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Vilari\u00f1o\u2010G\u00fcell","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver BC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0347"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071027"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12023"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.03.005"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.03.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.04.009"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.6.823"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181a92c4c"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2010.09.029"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.12231","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.12231","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:47:35Z","timestamp":1696326455000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.12231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,3]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1111\/ene.12231"],"URL":"https:\/\/doi.org\/10.1111\/ene.12231","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,3]]},"assertion":[{"value":"2013-05-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-06-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-07-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}