{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:41:56Z","timestamp":1790516516764,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,1,21]],"date-time":"2018-01-21T00:00:00Z","timestamp":1516492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institutes of Neurological Diseases"},{"name":"Stroke of the National Institutes of Health","award":["R56NS006277"],"award-info":[{"award-number":["R56NS006277"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next\u2010generation sequencing methods, the discovery of novel CMS targets and phenotypes has proceeded at an accelerated rate. Here, we review the current classification of CMS and describe our findings in five of these targets identified and investigated in our laboratory in the past 5 years. Defects in LRP4 hinder synaptic development and maintenance; the defects in PREPL are predicted to diminish filling of the synaptic vesicle with acetylcholine; and defects in SNAP25, Munc13\u20101, and synaptotbrevin\u20101 impede synaptic vesicle exocytosis.<\/jats:p>","DOI":"10.1111\/nyas.13539","type":"journal-article","created":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T14:58:41Z","timestamp":1516633121000},"page":"25-34","source":"Crossref","is-referenced-by-count":13,"title":["The unfolding landscape of the congenital myasthenic syndromes"],"prefix":"10.1111","volume":"1413","author":[{"given":"Andrew G.","family":"Engel","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin\u2010Ming","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Selcen","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt578"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2015.0853"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a009167"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000295"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2006.111"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/498852"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.2174\/187152711794653760"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880161204"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.09.019"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.4.2017"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.08.005"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(95)93906-E"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M310681200"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001079"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.10.022"},{"key":"e_1_2_11_17_1","first-page":"61","volume-title":"Human Molecular Genetics","author":"Strachan T.","year":"2011"},{"key":"e_1_2_11_18_1","doi-asserted-by":"crossref","first-page":"14736","DOI":"10.1016\/S0021-9258(18)77173-1","article-title":"Nicotinic receptor\u2010mediated catecholamine release from individual chromaffin cell","volume":"265","author":"Leszczyszyn D.J.","year":"1990","journal-title":"J. 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