{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T15:19:43Z","timestamp":1783005583273,"version":"3.54.5"},"reference-count":10,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100006190","name":"Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006190","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009438","name":"NCNP","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009438","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1016\/j.braindev.2018.12.002","type":"journal-article","created":{"date-parts":[[2019,3,4]],"date-time":"2019-03-04T19:05:03Z","timestamp":1551726303000},"page":"470-473","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation"],"prefix":"10.1016","volume":"41","author":[{"given":"Chihiro","family":"Matsumoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madoka","family":"Mori-Yoshimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukari","family":"Endo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Oya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Murata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"Suppl 2","key":"10.1016\/j.braindev.2018.12.002_b0005","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.3233\/JND-150098","article-title":"Congenital myasthenic syndromes with predominant limb girdle weakness","volume":"2","author":"Evangelista","year":"2015","journal-title":"J Neuromusc Dis"},{"key":"10.1016\/j.braindev.2018.12.002_b0010","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1007\/s00415-011-6262-z","article-title":"Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations","volume":"259","author":"Guergueltcheva","year":"2012","journal-title":"J Neurol"},{"key":"10.1016\/j.braindev.2018.12.002_b0015","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1111\/cge.12118","article-title":"Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia","volume":"85","author":"Maselli","year":"2014","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2018.12.002_b0020","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1002\/mus.23451","article-title":"Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations","volume":"46","author":"Huh","year":"2012","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.braindev.2018.12.002_b0025","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1212\/WNL.0b013e31829c5e9c","article-title":"GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity","volume":"81","author":"Selcen","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2018.12.002_b0030","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1093\/hmg\/ddt145","article-title":"Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR","volume":"22","author":"Zoltowska","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2018.12.002_b0035","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1016\/j.nmd.2017.08.003","article-title":"Molecular characterization of congenital myasthenic syndromes in Spain","volume":"27","author":"Natera-deBenito","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2018.12.002_b0040","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1007\/s00415-017-8569-x","article-title":"Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy","volume":"264","author":"Bauch\u00e9","year":"2017","journal-title":"J Neurol"},{"key":"10.1016\/j.braindev.2018.12.002_b0045","doi-asserted-by":"crossref","unstructured":"Maggi L, Brugnoni R, Confalonieri P, Scaioli V, Winden T, Morandi L, et al. Marked phenotypic variability in two siblings affected by congenital myasthenic syndrome caused by mutations in MUSK. J Neurol; 2013 (Epub ahead of print).","DOI":"10.1007\/s00415-013-7118-5"},{"key":"10.1016\/j.braindev.2018.12.002_b0050","doi-asserted-by":"crossref","first-page":"561","DOI":"10.5692\/clinicalneurol.54.561","article-title":"Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy (in Japanese)","volume":"54","author":"Nishikawa","year":"2014","journal-title":"Rinsho Shinkeigaku"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418301001?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418301001?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T10:38:13Z","timestamp":1565174293000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760418301001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["S0387760418301001"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2018.12.002","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2019,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2018.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}