{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T05:54:47Z","timestamp":1775800487594,"version":"3.50.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T00:00:00Z","timestamp":1564617600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T00:00:00Z","timestamp":1564617600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01NS109491"],"award-info":[{"award-number":["R01NS109491"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2019,8]]},"DOI":"10.1016\/j.nmd.2019.07.001","type":"journal-article","created":{"date-parts":[[2019,7,5]],"date-time":"2019-07-05T19:27:11Z","timestamp":1562354831000},"page":"614-617","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission"],"prefix":"10.1016","volume":"29","author":[{"given":"Stefan","family":"Nicolau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teerin","family":"Liewluck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Ming","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duygu","family":"Selcen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew G.","family":"Engel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Milone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2019.07.001_bib0001","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1093\/brain\/awv013","article-title":"Expanding the phenotype of GMPPB mutations","volume":"138","author":"Cabrera-Serrano","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2019.07.001_bib0002","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1093\/brain\/awv185","article-title":"Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies","volume":"138","author":"Belaya","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2019.07.001_bib0003","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ajhg.2013.05.009","article-title":"Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan","volume":"93","author":"Carss","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2019.07.001_bib0004","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1136\/jnnp-2016-313163","article-title":"Clinical features of the myasthenic syndrome arising from mutations in GMPPB","volume":"87","author":"Rodriguez Cruz","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2019.07.001_bib0005","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.nmd.2011.03.002","article-title":"Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia","volume":"21","author":"Liewluck","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.07.001_bib0006","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/gim.2017.142","article-title":"Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases","volume":"20","author":"Bergant","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2019.07.001_bib0007","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/s13023-018-0863-x","article-title":"Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an italian cross-sectional study","volume":"13","author":"Astrea","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2019.07.001_bib0008","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/j.nmd.2017.03.004","article-title":"Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome","volume":"27","author":"Luo","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.07.001_bib0009","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1002\/mus.25485","article-title":"Two patients with GMPPB mutation: the overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy","volume":"56","author":"Montagnese","year":"2017","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2019.07.001_bib0010","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1093\/brain\/awu160","article-title":"Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy","volume":"137","author":"Nicole","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2019.07.001_bib0011","doi-asserted-by":"crossref","first-page":"4617","DOI":"10.1093\/hmg\/ddr396","article-title":"A valid mouse model of AGRIN-associated congenital myasthenic syndrome","volume":"20","author":"Bogdanik","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2019.07.001_bib0012","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1093\/hmg\/ddl045","article-title":"Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies","volume":"15","author":"Taniguchi","year":"2006","journal-title":"Hum Mol Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619302950?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619302950?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:51Z","timestamp":1760774931000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896619302950"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["S0960896619302950"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.07.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2019,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.07.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}