{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:15:51Z","timestamp":1764782151407},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T00:00:00Z","timestamp":1524614400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neuromol Med"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1007\/s12017-018-8490-1","type":"journal-article","created":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T03:50:46Z","timestamp":1524628246000},"page":"205-214","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["How to Spot Congenital Myasthenic Syndromes Resembling the Lambert\u2013Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features"],"prefix":"10.1007","volume":"20","author":[{"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosana Herminia","family":"Scola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia Suemi Kamoi","family":"Kay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,4,25]]},"reference":[{"key":"8490_CR1","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1212\/WNL.0000000000003720","volume":"88","author":"A Aran","year":"2017","unstructured":"Aran, A., Segel, R., Kaneshige, K., et al. (2017). Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Neurology, 88, 1021\u20131028.","journal-title":"Neurology"},{"key":"8490_CR2","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1136\/jnnp.50.4.476","volume":"50","author":"D Bady","year":"1987","unstructured":"Bady, D., Chauplannaz, G., & Carrier, H. (1987). Congenital Lambert-Eaton myasthenic syndrome. Journal of Neurology, Neurosurgery, and Psychiatry, 50, 476\u2013478.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"8490_CR3","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.nmd.2005.05.001","volume":"15","author":"D Beeson","year":"2005","unstructured":"Beeson, D., Hanta\u00ef, D., Lochm\u00fcller, H., & Engel, A. G. (2005). 126th International Workshop: congenital myasthenic syndromes, 24\u201326 September 2004, Naarden, The Netherlands. Neuromuscular Disorders, 15, 498\u2013512.","journal-title":"Neuromuscular Disorders"},{"key":"8490_CR4","doi-asserted-by":"publisher","first-page":"2269","DOI":"10.1111\/j.1460-9568.1997.tb01645.x","volume":"9","author":"JA Campagna","year":"1997","unstructured":"Campagna, J. A., Ruegg, M. A., & Bixby, J. L. (1997). Evidence that agrin directly influences presynaptic differentiation at neuromuscular junctions in vitro. European Journal of Neuroscience, 9, 2269\u20132283.","journal-title":"European Journal of Neuroscience"},{"key":"8490_CR5","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/mus.10269","volume":"27","author":"AG Engel","year":"2003","unstructured":"Engel, A. G., Ohno, K., & Sine, S. M. (2003). Congenital myasthenic syndromes: Progress over the past decade. Muscle and Nerve, 27, 4\u201325.","journal-title":"Muscle and Nerve"},{"key":"8490_CR6","doi-asserted-by":"publisher","first-page":"e105","DOI":"10.1212\/NXG.0000000000000105","volume":"2","author":"AG Engel","year":"2016","unstructured":"Engel, A. G., Selcen, D., Shen, X. M., Milone, M., & Harper, C. M. (2016). Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurology Genetics, 2, e105.","journal-title":"Neurology Genetics"},{"key":"8490_CR7","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1111\/nyas.13539","volume":"1413","author":"AG Engel","year":"2018","unstructured":"Engel, A. G., Shen, X. M., & Selcen, D. (2018). The unfolding landscape of the congenital myasthenic syndromes. Annals of the New York Academy of Sciences, 1413, 25\u201334.","journal-title":"Annals of the New York Academy of Sciences"},{"key":"8490_CR8","doi-asserted-by":"publisher","first-page":"5","DOI":"10.3389\/fphys.2017.00005","volume":"8","author":"J Han","year":"2017","unstructured":"Han, J., Pluhackova, K., & B\u00f6ckmann, R. A. (2017). The multifaceted role of SNARE proteins in membrane fusion. Frontiers in Physiology, 8, 5.","journal-title":"Frontiers in Physiology"},{"key":"8490_CR9","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/j.ajhg.2014.08.007","volume":"95","author":"DN Herrmann","year":"2014","unstructured":"Herrmann, D. N., Horvath, R., Sowden, J. E., et al. (2014). Synaptotagmin 2 mutations cause an autosomal-dominant form of Lambert-Eaton myasthenic syndrome and nonprogressive motor neuropathy. American Journal of Human Genetics, 95, 332\u2013339.","journal-title":"American Journal of Human Genetics"},{"key":"8490_CR10","doi-asserted-by":"publisher","first-page":"2328","DOI":"10.1016\/j.clinph.2014.06.031","volume":"125","author":"R H\u00fclsbrink","year":"2014","unstructured":"H\u00fclsbrink, R., & Hashemolhosseini, S. (2014). Lambert-Eaton myasthenic syndrome: diagnosis, pathogenesis and therapy. Clinical Neurophysiology, 125, 2328\u20132336.","journal-title":"Clinical Neurophysiology"},{"key":"8490_CR11","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/nature11320","volume":"490","author":"R Jahn","year":"2012","unstructured":"Jahn, R., & Fasshauer, D. (2012). Molecular machines governing exocytosis of synaptic vesicles. Nature, 490, 201\u2013207.","journal-title":"Nature"},{"key":"8490_CR12","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1590\/S0004-282X2010000600004","volume":"68","author":"PJ Lorenzoni","year":"2010","unstructured":"Lorenzoni, P. J., Scola, R. H., Kay, C. S., Parolin, S. F., & Werneck, L. C. (2010). Non-paraneoplastic Lambert-Eaton myasthenic syndrome: A brief review of 10 cases. Arquivos de Neuro-Psiquiatria, 68, 849\u2013854.","journal-title":"Arquivos de Neuro-Psiquiatria"},{"key":"8490_CR13","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.pediatrneurol.2011.12.001","volume":"46","author":"PJ Lorenzoni","year":"2012","unstructured":"Lorenzoni, P. J., Scola, R. H., Kay, C. S. K., & Werneck, L. C. (2012). Congenital myasthenic syndrome: A brief review. Pediatric Neurology, 46, 141\u2013148.","journal-title":"Pediatric Neurology"},{"key":"8490_CR14","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1126\/science.1230473","volume":"339","author":"C Ma","year":"2013","unstructured":"Ma, C., Su, L., Seven, A. B., Yu, Y., & Rizo, J. (2013). Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release. Science, 339, 421\u2013425.","journal-title":"Science"},{"key":"8490_CR15","doi-asserted-by":"publisher","first-page":"2814","DOI":"10.1007\/s00018-008-8352-3","volume":"65","author":"J Malsam","year":"2008","unstructured":"Malsam, J., Kreye, S., & Sollner, T. H. (2008). Membrane fusion: SNAREs and regulation. Cellular and Molecular Life Sciences, 65, 2814\u20132832.","journal-title":"Cellular and Molecular Life Sciences"},{"key":"8490_CR16","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1111\/j.1749-6632.2012.06807.x","volume":"1275","author":"RA Maselli","year":"2012","unstructured":"Maselli, R. A., Arredondo, J., Ferns, M. J., & Wollmann, R. L. (2012). Synaptic basal lamina-associated congenital myasthenic syndromes. Annals of the New York Academy of Sciences, 1275, 36\u201348.","journal-title":"Annals of the New York Academy of Sciences"},{"key":"8490_CR17","doi-asserted-by":"publisher","first-page":"2240","DOI":"10.1002\/ajmg.a.38291","volume":"173","author":"RA Maselli","year":"2017","unstructured":"Maselli, R. A., Arredondo, J., Vazquez, J., et al. (2017). Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. American Journal of Medical Genetics, 173, 2240\u20132245.","journal-title":"American Journal of Medical Genetics"},{"key":"8490_CR18","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1007\/s00439-011-1132-4","volume":"131","author":"RA Maselli","year":"2012","unstructured":"Maselli, R. A., Fernandez, J. M., Arredondo, J., et al. (2012). LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Human Genetics, 131, 1123\u20131135.","journal-title":"Human Genetics"},{"key":"8490_CR19","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1055\/s-0037-1602832","volume":"48","author":"G McMacken","year":"2017","unstructured":"McMacken, G., Abicht, A., Evangelista, T., Spendiff, S., & Lochm\u00fcller, H. (2017). The increasing genetic and phenotypical diversity of congenital myasthenic syndromes. Neuropediatrics, 48, 294\u2013308.","journal-title":"Neuropediatrics"},{"key":"8490_CR20","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1083\/jcb.143.6.1713","volume":"143","author":"JH Miner","year":"1998","unstructured":"Miner, J. H., Cunningham, J., & Sanes, J. R. (1998). Roles for laminin in embryogenesis: Exencephaly, syndactyly, and placentopathy in mice lacking the laminin-5 chain. Journal of Cell Biology, 143, 1713\u20131723.","journal-title":"Journal of Cell Biology"},{"key":"8490_CR21","doi-asserted-by":"publisher","first-page":"269","DOI":"10.3233\/JND-170257","volume":"4","author":"S Nicole","year":"2017","unstructured":"Nicole, S., Azuma, Y., Bauch\u00e9, S., Eymard, B., Lochm\u00fcller, H., & Slater, C. (2017). Congenital myasthenic syndromes or inherited disorders of neuromuscular transmission: Recent discoveries and open questions. Journal of Neuromuscular Diseases, 4, 269\u2013284.","journal-title":"Journal of Neuromuscular Diseases"},{"key":"8490_CR22","doi-asserted-by":"publisher","first-page":"2429","DOI":"10.1093\/brain\/awu160","volume":"137","author":"S Nicole","year":"2014","unstructured":"Nicole, S., Chaouch, A., Torbergsen, T., et al. (2014). Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain, 137, 2429\u20132443.","journal-title":"Brain"},{"key":"8490_CR23","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/nature03112","volume":"432","author":"H Nishimune","year":"2004","unstructured":"Nishimune, H., Sanes, J. R., & Carlson, S. S. (2004). A synaptic laminin-calcium channel interaction organizes active zones in motor nerve terminals. Nature, 432, 580\u2013587.","journal-title":"Nature"},{"key":"8490_CR24","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1146\/annurev-biophys-060414-034057","volume":"44","author":"J Rizo","year":"2015","unstructured":"Rizo, J., & Xu, J. (2015). The synaptic vesicle release machinery. Annual Review of Biophysics, 44, 339\u2013367.","journal-title":"Annual Review of Biophysics"},{"key":"8490_CR25","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1002\/ana.24905","volume":"81","author":"V Salpietro","year":"2017","unstructured":"Salpietro, V., Lin, W., Vedove, A. D., et al. (2017). Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Annals of Neurology, 81, 597\u2013603.","journal-title":"Annals of Neurology"},{"key":"8490_CR26","doi-asserted-by":"publisher","first-page":"1854","DOI":"10.1007\/s00415-017-8541-9","volume":"264","author":"B Schoser","year":"2017","unstructured":"Schoser, B., Eymard, B., Datt, J., & Mantegazza, R. (2017). Lambert-Eaton myasthenic syndrome (LEMS): A rare autoimmune presynaptic disorder often associated with cancer. Journal of Neurology, 264, 1854\u20131863.","journal-title":"Journal of Neurology"},{"key":"8490_CR27","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1002\/acn3.387","volume":"4","author":"XM Shen","year":"2017","unstructured":"Shen, X. M., Scola, R. H., Lorenzoni, P. J., et al. (2017). Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. Annals of Clinical and Translational Neurology, 4, 130\u2013138.","journal-title":"Annals of Clinical and Translational Neurology"},{"key":"8490_CR28","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1212\/WNL.0000000000001079","volume":"83","author":"XM Shen","year":"2014","unstructured":"Shen, X. M., Selcen, D., Brengman, J., & Engel, A. G. (2014). Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology, 83, 2247\u20132255.","journal-title":"Neurology"},{"key":"8490_CR29","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1074\/jbc.275.1.451","volume":"275","author":"YJ Son","year":"2000","unstructured":"Son, Y. J., Scranton, T. W., Sunderland, W. J., et al. (2000). The synaptic vesicle protein SV2 is complexed with an alpha5-containing laminin on the nerve terminal surface. Journal of Biological Chemistry, 275, 451\u2013460.","journal-title":"Journal of Biological Chemistry"},{"key":"8490_CR30","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1590\/0004-282X20160106","volume":"4","author":"PV Souza","year":"2016","unstructured":"Souza, P. V., Batistella, G. N., Lino, V. C., Pinto, W. B., Annes, M., & Oliveira, A. S. (2016). Clinical and genetic basis of congenital myasthenic syndromes. Arquivos de Neuro-Psiquiatria, 4, 750\u2013760.","journal-title":"Arquivos de Neuro-Psiquiatria"},{"key":"8490_CR31","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1126\/science.1161748","volume":"323","author":"TC Sudhof","year":"2009","unstructured":"Sudhof, T. C., & Rothman, J. E. (2009). Membrane fusion: grappling with SNARE and SM proteins. Science, 323, 474\u2013477.","journal-title":"Science"},{"key":"8490_CR32","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1016\/S1474-4422(11)70245-9","volume":"10","author":"MJ Titulaer","year":"2011","unstructured":"Titulaer, M. J., Lang, B., & Verschuuren, J. (2011). Lambert\u2013Eaton myasthenic syndrome: from clinical characteristics to therapeutic strategies. Lancet Neurology, 10, 1098\u20131107.","journal-title":"Lancet Neurology"},{"key":"8490_CR33","doi-asserted-by":"publisher","first-page":"1964","DOI":"10.1212\/WNL.0000000000002185","volume":"85","author":"RG Whittaker","year":"2015","unstructured":"Whittaker, R. G., Herrmann, D. N., Bansagi, B., et al. (2015). Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology, 85, 1964\u20131971.","journal-title":"Neurology"}],"container-title":["NeuroMolecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12017-018-8490-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12017-018-8490-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12017-018-8490-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,24]],"date-time":"2019-04-24T19:19:45Z","timestamp":1556133585000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12017-018-8490-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,25]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["8490"],"URL":"https:\/\/doi.org\/10.1007\/s12017-018-8490-1","relation":{},"ISSN":["1535-1084","1559-1174"],"issn-type":[{"value":"1535-1084","type":"print"},{"value":"1559-1174","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,25]]},"assertion":[{"value":"24 January 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"There is no conflict of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}