{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:20:20Z","timestamp":1791901220448,"version":"4.3.4"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1093\/brain\/awm325","type":"journal-article","created":{"date-parts":[[2008,1,7]],"date-time":"2008-01-07T20:14:45Z","timestamp":1199736885000},"page":"747-759","source":"Crossref","is-referenced-by-count":146,"title":["Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes"],"prefix":"10.1093","volume":"131","author":[{"given":"Violeta","family":"Mihaylova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane S.","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan J.","family":"Vilchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa A.","family":"Salih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad M.","family":"Kabiraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D\u2019Amico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"W\u00f6lfle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Schreiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Kurlemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vedrana Milic","family":"Rasic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Siskova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Colomer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Herczegfalvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Fabriciova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Weschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosana","family":"Scola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friederike","family":"Hoellen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2008,1,7]]},"reference":[{"key":"key\n\t\t\t\t20170424182847_B1","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.nmd.2005.05.001","article-title":"126th International Workshop: congenital myasthenic syndromes, 24\u201326 September 2004, Naarden, The Netherlands","volume":"15","author":"Beeson","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20170424182847_B2","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1126\/science.1130837","article-title":"Dok-7 mutations underlie a neuromuscular junction synaptopathy","volume":"313","author":"Beeson","year":"2006","journal-title":"Science"},{"key":"key\n\t\t\t\t20170424182847_B3","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1212\/01.wnl.0000167132.35865.31","article-title":"Congenital endplate acetylcholinesterase deficiency responsive to ephedrine","volume":"65","author":"Bestue-Cardiel","year":"2005","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170424182847_B4","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.nmd.2006.02.009","article-title":"Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine","volume":"16","author":"Colomer","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20170424182847_B5","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1212\/WNL.59.2.162","article-title":"Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes","volume":"59","author":"Croxen","year":"2002","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170424182847_B6","doi-asserted-by":"crossref","first-page":"23233","DOI":"10.1074\/jbc.M301384200","article-title":"Two different heparin-binding domains in the triple-helical domain of ColQ, the collagen tail subunit of synaptic acetylcholinesterase","volume":"278","author":"Deprez","year":"2003","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170424182847_B7","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1086\/302059","article-title":"Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)","volume":"63","author":"Donger","year":"1998","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170424182847_B8","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ana.410010403","article-title":"A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release","volume":"1","author":"Engel","year":"1977","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170424182847_B9","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/mus.10269","article-title":"Congenital myasthenic syndromes: progress over the past decade","volume":"27","author":"Engel","year":"2003","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170424182847_B10","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/nrn1101","article-title":"Sleuthing molecular targets for neurological diseases at the neuromuscular junction","volume":"4","author":"Engel","year":"2003","journal-title":"Nat Rev Neurosci"},{"key":"key\n\t\t\t\t20170424182847_B11","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.coph.2004.12.007","article-title":"Current understanding of congenital myasthenic syndromes","volume":"5","author":"Engel","year":"2005","journal-title":"Curr Opin Pharmacol"},{"key":"key\n\t\t\t\t20170424182847_B12","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.cbi.2005.10.110","article-title":"Acetylcholinesterase and molecular interactions at the neuromuscular junction","volume":"157\u2013158","author":"Guerra","year":"2005","journal-title":"Chem Biol Interact"},{"issue":"Pt 3","key":"key\n\t\t\t\t20170424182847_B13","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1093\/brain\/116.3.633","article-title":"Congenital endplate acetylcholinesterase deficiency","volume":"116","author":"Hutchinson","year":"1993","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170424182847_B14","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/s0960-8966(02)00243-2","article-title":"Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency","volume":"13","author":"Ishigaki","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20170424182847_B15","doi-asserted-by":"crossref","first-page":"10997","DOI":"10.1074\/jbc.M305462200","article-title":"C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse","volume":"279","author":"Kimbell","year":"2004","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170424182847_B16","doi-asserted-by":"crossref","first-page":"22840","DOI":"10.1074\/jbc.272.36.22840","article-title":"The mammalian gene of acetylcholinesterase-associated collagen","volume":"272","author":"Krejci","year":"1997","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170424182847_B17","doi-asserted-by":"crossref","first-page":"5651","DOI":"10.1523\/JNEUROSCI.17-15-05651.1997","article-title":"Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit","volume":"17","author":"Milone","year":"1997","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20170424182847_B18","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1093\/brain\/awm068","article-title":"Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes","volume":"130","author":"M\u00fcller","year":"2007","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170424182847_B19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399407000427","article-title":"Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission","volume":"9","author":"M\u00fcller","year":"2007","journal-title":"Expert Rev Mol Med"},{"key":"key\n\t\t\t\t20170424182847_B20","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1055\/s-2004-820996","article-title":"Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene","volume":"35","author":"M\u00fcller","year":"2004","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20170424182847_B21","doi-asserted-by":"crossref","first-page":"9654","DOI":"10.1073\/pnas.95.16.9654","article-title":"Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme","volume":"95","author":"Ohno","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170424182847_B22","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1086\/302551","article-title":"Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A\u2013>G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?","volume":"65","author":"Ohno","year":"1999","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170424182847_B23","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q","article-title":"The spectrum of mutations causing end-plate acetylcholinesterase deficiency","volume":"47","author":"Ohno","year":"2000","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170424182847_B24","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1093\/brain\/awm072","article-title":"Clinical features of the DOK7 neuromuscular junction synaptopathy","volume":"130","author":"Palace","year":"2007","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170424182847_B25","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.nmd.2006.11.010","article-title":"Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives","volume":"17","author":"Schreiner","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20170424182847_B26","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1212\/WNL.58.4.603","article-title":"Three novel COLQ mutations and variation of phenotypic expressivity due to G240X","volume":"58","author":"Shapira","year":"2002","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170424182847_B27","article-title":"Partial endplate acetylcholine esterase deficiency due to a novel COLQ-mutation","author":"Weschke","year":"2007","journal-title":"Neuromusc Disord"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/131\/3\/747\/13735120\/awm325.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T13:01:59Z","timestamp":1557147719000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awm325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,7]]},"references-count":27,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2008,1,7]]},"published-print":{"date-parts":[[2008,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awm325","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2008,1,7]]}}}