{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T21:13:50Z","timestamp":1788642830734,"version":"build-2803163510"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,24]]},"DOI":"10.7759\/cureus.45875","type":"journal-article","created":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T04:46:28Z","timestamp":1695617188000},"source":"Crossref","is-referenced-by-count":1,"title":["Can Scoliosis Help the Early Diagnosis of Congenital Myasthenic Syndrome?"],"prefix":"10.7759","author":[{"given":"O\u011fuz","family":"Kaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serkan","family":"Kirik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70201-7","article-title":"Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment","volume":"14","author":"Engel AG","year":"2015","unstructured":"Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 2015, 14:420-34. 10.1016\/S1474-4422(14)70201-7","journal-title":"Lancet Neurol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00629.x","article-title":"Childhood myasthenia: clinical subtypes and practical management","volume":"49","author":"Parr JR","year":"2007","unstructured":"Parr JR, Jayawant S. Childhood myasthenia: clinical subtypes and practical management. Dev Med Child Neurol. 2007, 49:629-35. 10.1111\/j.1469-8749.2007.00629.x","journal-title":"Dev Med Child Neurol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1323850","article-title":"Congenital myasthenic syndromes: current diagnostic and therapeutic approaches","volume":"43","author":"Schara U","year":"2012","unstructured":"Schara U, Della Marina A, Abicht A. Congenital myasthenic syndromes: current diagnostic and therapeutic approaches. Neuropediatrics. 2012, 43:184-93. 10.1055\/s-0032-1323850","journal-title":"Neuropediatrics"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24043730","article-title":"Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review","volume":"24","author":"Ohno K","year":"2023","unstructured":"Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. Int J Mol Sci. 2023, 24:3730. 10.3390\/ijms24043730","journal-title":"Int J Mol Sci"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s40981-022-00560-1","article-title":"General anesthesia for treating scoliosis with congenital myasthenia syndrome: a case report","volume":"8","author":"Yamashita A","year":"2022","unstructured":"Yamashita A, Muramatsu Y, Matsuda H, Okamoto H. General anesthesia for treating scoliosis with congenital myasthenia syndrome: a case report. JA Clin Rep. 2022, 8:70. 10.1186\/s40981-022-00560-1","journal-title":"JA Clin Rep"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1177\/0883073817705252","article-title":"Genetic landscape of congenital myasthenic syndromes from Turkey: novel mutations and clinical insights","volume":"32","author":"Yi\u015f U","year":"2017","unstructured":"Yi\u015f U, Becker K, Kurul SH, et al.. Genetic landscape of congenital myasthenic syndromes from Turkey: novel mutations and clinical insights. J Child Neurol. 2017, 32:759-65. 10.1177\/0883073817705252","journal-title":"J Child Neurol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-013-0179-5","article-title":"Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis","volume":"113","author":"Duran GS","year":"2013","unstructured":"Duran GS, Uzunhan TA, Ekici B, \u00c7\u0131tak A, Ayd\u0131nl\u0131 N, \u00c7al\u0131\u015fkan M. Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis. Acta Neurol Belg. 2013, 113:531-2. 10.1007\/s13760-013-0179-5","journal-title":"Acta Neurol Belg"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3389\/fnhum.2020.560860","article-title":"Long term follow-up on pediatric cases with congenital myasthenic syndromes\u2014a retrospective single centre cohort study","volume":"14","author":"Della Marina A","year":"2020","unstructured":"Della Marina A, Wibbeler E, Abicht A, K\u00f6lbel H, Lochm\u00fcller H, Roos A, Schara U. Long term follow-up on pediatric cases with congenital myasthenic syndromes\u2014a retrospective single centre cohort study. Front Hum Neurosci. 2020, 14:560860. 10.3389\/fnhum.2020.560860","journal-title":"Front Hum Neurosci"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.013","article-title":"Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up","volume":"28","author":"Durmus H","year":"2018","unstructured":"Durmus H, Shen XM, Serdaroglu-Oflazer P, et al.. Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up. Neuromuscul Disord. 2018, 28:315-22. 10.1016\/j.nmd.2017.11.013","journal-title":"Neuromuscul Disord"},{"key":"ref10","doi-asserted-by":"publisher","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 I","year":"2012","unstructured":"Wargon I, Richard P, Kuntzer T, et al.. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord. 2012, 22:318-24. 10.1016\/j.nmd.2011.09.002","journal-title":"Neuromuscul Disord"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2008.06.026","article-title":"Congenital myasthenic syndromes in childhood: diagnostic and management challenges","volume":"201","author":"Kinali M","year":"2008","unstructured":"Kinali M, Beeson D, Pitt MC, et al.. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008, 201:6-12. 10.1016\/j.jneuroim.2008.06.026","journal-title":"J Neuroimmunol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2008.07.003","article-title":"Therapeutic strategies in congenital myasthenic syndromes","volume":"5","author":"Schara U","year":"2008","unstructured":"Schara U, Lochm\u00fcller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics. 2008, 5:542-7. 10.1016\/j.nurt.2008.07.003","journal-title":"Neurotherapeutics"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-018-0520-7","article-title":"Congenital myasthenic syndromes: a clinical and treatment approach","volume":"20","author":"Farmakidis C","year":"2018","unstructured":"Farmakidis C, Pasnoor M, Barohn RJ, Dimachkie MM. Congenital myasthenic syndromes: a clinical and treatment approach. Curr Treat Options Neurol. 2018, 20:36. 10.1007\/s11940-018-0520-7","journal-title":"Curr Treat Options Neurol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/188865-can-scoliosis-help-the-early-diagnosis-of-congenital-myasthenic-syndrome","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:06:41Z","timestamp":1707509201000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/188865-can-scoliosis-help-the-early-diagnosis-of-congenital-myasthenic-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,24]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.45875","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9,24]]}}}