{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T23:18:00Z","timestamp":1793229480195,"version":"4.5.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":386,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,8]]},"DOI":"10.1016\/j.ajhg.2012.07.002","type":"journal-article","created":{"date-parts":[[2012,8,2]],"date-time":"2012-08-02T11:50:44Z","timestamp":1343908244000},"page":"313-319","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":186,"title":["Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor"],"prefix":"10.1016","volume":"91","author":[{"given":"Nancy\u00a0D.","family":"Merner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon\u00a0L.","family":"Girard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Catoire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia\u00a0V.","family":"Bourassa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique\u00a0V.","family":"Belzil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Rivi\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Hince","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Levert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Dionne-Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Spiegelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Noreau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Diab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Szuto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Raelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Belouchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Panisset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Cossette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Dupr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Bernard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Chouinard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick\u00a0A.","family":"Dion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy\u00a0A.","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2012.07.002_bib1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1097\/NEN.0b013e3181d1ad04","article-title":"\u201cHairy baskets\u201d associated with degenerative Purkinje cell changes in essential tremor","volume":"69","author":"Erickson-Davis","year":"2010","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ajhg.2012.07.002_bib2","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/mds.22838","article-title":"How common is the most\u00a0common adult movement disorder? Update on the worldwide prevalence of essential tremor","volume":"25","author":"Louis","year":"2010","journal-title":"Mov. Disord."},{"issue":"Suppl 3","key":"10.1016\/j.ajhg.2012.07.002_bib3","first-page":"2","article-title":"Consensus statement of the Movement Disorder Society on Tremor","volume":"13","author":"Deuschl","year":"1998","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ajhg.2012.07.002_bib4","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1001\/archneur.63.8.1100","article-title":"Common misdiagnosis of a common neurological disorder: How are we misdiagnosing essential tremor?","volume":"63","author":"Jain","year":"2006","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ajhg.2012.07.002_bib5","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1007\/s004150070053","article-title":"Essential tremor: An overdiagnosed condition?","volume":"247","author":"Schrag","year":"2000","journal-title":"J. Neurol."},{"key":"10.1016\/j.ajhg.2012.07.002_bib6","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1002\/mds.22755","article-title":"Essential tremor\u2014neurodegenerative or nondegenerative disease towards a working definition of ET","volume":"24","author":"Deuschl","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ajhg.2012.07.002_bib7","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/brain\/awm018","article-title":"Genetics of essential tremor","volume":"130","author":"Deng","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2012.07.002_bib8","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/ng0997-84","article-title":"Mapping of a familial essential tremor gene, FET1, to chromosome 3q13","volume":"17","author":"Gulcher","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib9","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/mds.870120605","article-title":"A gene (ETM) for essential tremor maps to chromosome 2p22-p25","volume":"12","author":"Higgins","year":"1997","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ajhg.2012.07.002_bib10","doi-asserted-by":"crossref","first-page":"2318","DOI":"10.1093\/brain\/awl120","article-title":"Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23","volume":"129","author":"Shatunov","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2012.07.002_bib11","doi-asserted-by":"crossref","first-page":"10753","DOI":"10.1073\/pnas.0508189103","article-title":"A functional variant of the\u00a0dopamine D3 receptor is associated with risk and age-at-onset of essential tremor","volume":"103","author":"Jeanneteau","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2012.07.002_bib12","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/ng.299","article-title":"Variant in the sequence of the LINGO1 gene confers risk of essential tremor","volume":"41","author":"Stefansson","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib13","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib14","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1001\/archneur.55.6.823","article-title":"Diagnostic criteria for essential tremor: A population perspective","volume":"55","author":"Louis","year":"1998","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ajhg.2012.07.002_bib15","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1212\/WNL.0b013e3181f07e26","article-title":"Novel missense and truncating mutations in FUS\/TLS in familial ALS","volume":"75","author":"Waibel","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2012.07.002_bib16","doi-asserted-by":"crossref","first-page":"113","DOI":"10.3109\/17482968.2010.536840","article-title":"Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis","volume":"12","author":"Belzil","year":"2011","journal-title":"Amyotroph. Lateral Scler."},{"key":"10.1016\/j.ajhg.2012.07.002_bib17","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmg.2009.071027","article-title":"Mutations of FUS gene in sporadic amyotrophic lateral sclerosis","volume":"47","author":"Corrado","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib18","doi-asserted-by":"crossref","first-page":"28995","DOI":"10.1074\/jbc.270.48.28995","article-title":"A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in\u00a0vivo is reversed by protein synthesis inhibitors in\u00a0vitro","volume":"270","author":"Carter","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2012.07.002_bib19","doi-asserted-by":"crossref","first-page":"e1001052","DOI":"10.1371\/journal.pbio.1001052","article-title":"A yeast model of FUS\/TLS-dependent cytotoxicity","volume":"9","author":"Ju","year":"2011","journal-title":"PLoS Biol."},{"issue":"Suppl","key":"10.1016\/j.ajhg.2012.07.002_bib20","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng1090","article-title":"Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease","volume":"33","author":"Botstein","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib21","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00439-011-0964-2","article-title":"Revisiting Mendelian disorders through exome sequencing","volume":"129","author":"Ku","year":"2011","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib22","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2012.07.002_bib23","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib24","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/nature09639","article-title":"Exome sequencing identifies frequent mutation of the SWI\/SNF complex gene PBRM1 in renal carcinoma","volume":"469","author":"Varela","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2012.07.002_bib25","doi-asserted-by":"crossref","first-page":"3510","DOI":"10.1093\/brain\/awq323","article-title":"TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing","volume":"133","author":"Wang","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2012.07.002_bib26","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1017\/S135583820101442X","article-title":"Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B\/B\u2019 and the Sm-like protein LSm4, and their interaction with the SMN protein","volume":"7","author":"Brahms","year":"2001","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2012.07.002_bib27","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1126\/science.1166066","article-title":"Mutations in the FUS\/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis","volume":"323","author":"Kwiatkowski","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2012.07.002_bib28","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1126\/science.1165942","article-title":"Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6","volume":"323","author":"Vance","year":"2009","journal-title":"Science"},{"issue":"R1","key":"10.1016\/j.ajhg.2012.07.002_bib29","doi-asserted-by":"crossref","first-page":"R46","DOI":"10.1093\/hmg\/ddq137","article-title":"TDP-43 and FUS\/TLS: Emerging roles in RNA processing and neurodegeneration","volume":"19","author":"Lagier-Tourenne","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib30","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s00401-009-0621-1","article-title":"Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation","volume":"119","author":"Tateishi","year":"2010","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2012.07.002_bib31","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/ana.22246","article-title":"Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS\/TLS","volume":"69","author":"Ito","year":"2011","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2012.07.002_bib32","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddr417","article-title":"ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism","volume":"21","author":"Murakami","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib33","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1212\/WNL.0b013e3181ccc732","article-title":"Genetic contribution of FUS to frontotemporal lobar degeneration","volume":"74","author":"Van Langenhove","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2012.07.002_bib34","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/emboj\/19.3.453","article-title":"Male sterility and enhanced radiation sensitivity in TLS(-\/-) mice","volume":"19","author":"Kuroda","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2012.07.002_bib35","doi-asserted-by":"crossref","first-page":"e1002214","DOI":"10.1371\/journal.pgen.1002214","article-title":"FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis","volume":"7","author":"Kabashi","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2012.07.002_bib36","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1212\/WNL.0b013e3181f07e0c","article-title":"Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS\/dementia","volume":"75","author":"Yan","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2012.07.002_bib37","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1002\/mds.22655","article-title":"Essential tremor in Parkinson\u2019s disease kindreds from a population of similar genetic background","volume":"24","author":"Spanaki","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ajhg.2012.07.002_bib38","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1177\/000348949210100612","article-title":"Rapid voice tremor, or \u201cflutter,\u201d in amyotrophic lateral sclerosis","volume":"101","author":"Aronson","year":"1992","journal-title":"Ann. Otol. Rhinol. Laryngol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712003576?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712003576?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:11:47Z","timestamp":1757574707000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929712003576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["S0002929712003576"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.07.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.07.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}