{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:20:49Z","timestamp":1760833249707,"version":"build-2065373602"},"reference-count":12,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.nmd.2020.12.002","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T18:14:44Z","timestamp":1607710484000},"page":"246-248","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report"],"prefix":"10.1016","volume":"31","author":[{"given":"Anomali","family":"Vidanagamage","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inuka Kishara","family":"Gooneratne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanika","family":"Nandasiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamal","family":"Gunaratne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arjuna","family":"Fernando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Maxwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Cossins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thashi","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.nmd.2020.12.002_bib0001","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/S1474-4422(14)70201-7","article-title":"Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment","volume":"14","author":"Engel","year":"2015","journal-title":"Lancet Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2020.12.002_bib0002","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1097\/WCO.0000000000000736","article-title":"The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies","volume":"32","author":"Vanhaesebrouck","year":"2019","journal-title":"Curr Opin Neurol"},{"issue":"6","key":"10.1016\/j.nmd.2020.12.002_bib0003","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.nmd.2011.12.004","article-title":"186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, the Netherlands","volume":"22","author":"Chaouch","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.12.002_bib0004","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/s12883-016-0716-y","article-title":"A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report","volume":"16","author":"Chang","year":"2016","journal-title":"BMC Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2020.12.002_bib0005","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1042\/ETLS20180100","article-title":"Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome","volume":"3","author":"Thompson","year":"2019","journal-title":"Emerg Top Life Sci"},{"key":"10.1016\/j.nmd.2020.12.002_bib0006","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1093\/brain\/awm325","article-title":"Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes","volume":"131","author":"Mihaylova","year":"2008","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.nmd.2020.12.002_bib0007","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/nyas.13595","article-title":"Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms","volume":"1413","author":"Legay","year":"2018","journal-title":"Ann N Y Acad Sci."},{"issue":"1\u20132","key":"10.1016\/j.nmd.2020.12.002_bib0008","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s12031-009-9229-0","article-title":"What have we learned from the congenital myasthenic syndromes","volume":"40","author":"Engel","year":"2010","journal-title":"J Mol Neurosci"},{"issue":"4","key":"10.1016\/j.nmd.2020.12.002_bib0010","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.nmd.2011.09.002","article-title":"Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations","volume":"22","author":"Wargon","year":"2012","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2020.12.002_bib0009","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.nmd.2014.11.017","article-title":"Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect","volume":"25","author":"Guo","year":"2015","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2020.12.002_bib0011","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.nmd.2014.11.017","article-title":"Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect","volume":"25","author":"Guo","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.12.002_bib0012","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.expneurol.2014.10.008","article-title":"Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome","volume":"270","author":"Zhu","year":"2015","journal-title":"Exp Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620306969?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620306969?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:10:19Z","timestamp":1760775019000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896620306969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["S0960896620306969"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2020.12.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2020.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}