{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:15:17Z","timestamp":1780470917853,"version":"3.54.1"},"reference-count":17,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"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":[[2014,2]]},"DOI":"10.1016\/j.nmd.2013.10.009","type":"journal-article","created":{"date-parts":[[2013,11,6]],"date-time":"2013-11-06T14:05:42Z","timestamp":1383746742000},"page":"143-147","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the \u03b1\u2013\u03b5 subunit interface"],"prefix":"10.1016","volume":"24","author":[{"given":"Richard","family":"Webster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Wei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Chaouch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2013.10.009_b0005","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1007\/s11910-011-0234-7","article-title":"Congenital myasthenic syndromes in 2012","volume":"12","author":"Engel","year":"2012","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.nmd.2013.10.009_b0010","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\u201326 June 2011, Naarden, The Netherlands","volume":"22","author":"Chaouch","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2013.10.009_b0015","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"},{"key":"10.1016\/j.nmd.2013.10.009_b0020","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1152\/physrev.00015.2011","article-title":"End-plate acetylcholine receptor: structure, mechanism, pharmacology, and disease","volume":"92","author":"Sine","year":"2012","journal-title":"Physiol Rev"},{"key":"10.1016\/j.nmd.2013.10.009_b0025","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1007\/s00415-009-5190-7","article-title":"AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands","volume":"256","author":"Faber","year":"2009","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2013.10.009_b0030","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1093\/hmg\/11.24.3087","article-title":"Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR","volume":"11","author":"Ealing","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2013.10.009_b0035","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF00656997","article-title":"Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches","volume":"391","author":"Hamill","year":"1981","journal-title":"Pflugers Arch"},{"key":"10.1016\/j.nmd.2013.10.009_b0040","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1113\/jphysiol.1984.sp015065","article-title":"Substance P reduces acetylcholine-induced currents in isolated bovine chromaffin cells","volume":"347","author":"Clapham","year":"1984","journal-title":"J Physiol"},{"key":"10.1016\/j.nmd.2013.10.009_b0045","doi-asserted-by":"crossref","first-page":"4110","DOI":"10.1523\/JNEUROSCI.0025-07.2007","article-title":"An intersubunit trigger of channel gating in the muscle nicotinic receptor","volume":"27","author":"Mukhtasimova","year":"2007","journal-title":"J Neurosci"},{"key":"10.1016\/j.nmd.2013.10.009_b0050","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1172\/JCI34527","article-title":"Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating","volume":"118","author":"Shen","year":"2008","journal-title":"J Clin Investig"},{"key":"10.1016\/j.nmd.2013.10.009_b0055","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1196\/annals.1254.015","article-title":"Mechanistic diversity underlying fast channel congenital myasthenic syndromes","volume":"998","author":"Sine","year":"2003","journal-title":"Ann NY Acad Sci"},{"key":"10.1016\/j.nmd.2013.10.009_b0060","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1212\/WNL.0b013e31825b5bda","article-title":"Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site","volume":"79","author":"Shen","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2013.10.009_b0065","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1212\/01.WNL.0000118205.99701.41","article-title":"Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome","volume":"62","author":"Webster","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2013.10.009_b0070","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/brain\/awh364","article-title":"Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3\u2013M4 linker","volume":"128","author":"Shen","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2013.10.009_b0075","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1172\/JCI200112935","article-title":"Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita","volume":"108","author":"Brownlow","year":"2001","journal-title":"J Clin Investig"},{"key":"10.1016\/j.nmd.2013.10.009_b0080","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.nmd.2011.08.002","article-title":"Clinical features in a series of fast channel congenital myasthenia syndrome","volume":"22","author":"Palace","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2013.10.009_b0085","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0896-6273(00)80289-5","article-title":"Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit","volume":"17","author":"Ohno","year":"1996","journal-title":"Neuron"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896613009899?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896613009899?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:02:00Z","timestamp":1760774520000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896613009899"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0960896613009899"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2013.10.009","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the \u03b1\u2013\u03b5 subunit interface","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2013.10.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}