{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T05:30:45Z","timestamp":1766467845156,"version":"3.40.5"},"reference-count":13,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","nmd-journal.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.nmd.2024.03.007","type":"journal-article","created":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T00:52:03Z","timestamp":1711155123000},"page":"30-32","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients"],"prefix":"10.1016","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7925-7586","authenticated-orcid":false,"given":"Freddy","family":"Paiz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issa","family":"Alawneh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Nigro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8084-8324","authenticated-orcid":false,"given":"Hernan D.","family":"Gonorazky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2024.03.007_bib0001","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/8904_2015_470","article-title":"Pearson syndrome: a retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)","volume":"26","author":"Farruggia","year":"2016","journal-title":"JIMD Rep"},{"issue":"3","key":"10.1016\/j.nmd.2024.03.007_bib0002","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/s10545-014-9778-4","article-title":"Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease","volume":"38","author":"Broomfield","year":"2015","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.nmd.2024.03.007_bib0003","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.ajo.2008.05.039","article-title":"Ophthalmological aspects of Pierson syndrome","volume":"146","author":"Bredrup","year":"2008","journal-title":"Am J Ophthalmol"},{"issue":"4","key":"10.1016\/j.nmd.2024.03.007_bib0004","doi-asserted-by":"crossref","DOI":"10.3390\/ijms24043730","article-title":"Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes \u2013 a comprehensive review","volume":"24","author":"Ohno","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"3","key":"10.1016\/j.nmd.2024.03.007_bib0005","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmg.2008.063693","article-title":"Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome","volume":"46","author":"Maselli","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2024.03.007_bib0006","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1681\/ASN.2010060632","article-title":"A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion","volume":"22","author":"Chen","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.nmd.2024.03.007_bib0007","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.ajo.2008.05.039","article-title":"Ophthalmological aspects of Pierson syndrome","volume":"146","author":"Bredrup","year":"2008","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.nmd.2024.03.007_bib0008","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","article-title":"Human laminin \u03b22 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities","volume":"13","author":"Zenker","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2024.03.007_bib0009","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/374258a0","article-title":"Aberrant differentiation of neuromuscular junctions in mice lacking s- laminin\/laminin beta 2","volume":"374","author":"Noakes","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2024.03.007_bib0010","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1038\/31502","article-title":"Synaptic laminin prevents glial entry into the synaptic cleft","volume":"393","author":"Patton","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2024.03.007_bib0011","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1113\/jphysiol.2002.030924","article-title":"Functional analysis of neurotransmission at beta2-laminin deficient terminals","volume":"546","author":"Knight","year":"2003","journal-title":"J Physiol"},{"issue":"9","key":"10.1016\/j.nmd.2024.03.007_bib0012","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/humu.21304","article-title":"Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum","volume":"31","author":"Matejas","year":"2010","journal-title":"Human Mutat,"},{"issue":"9","key":"10.1016\/j.nmd.2024.03.007_bib0013","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1016\/j.ekir.2023.06.019","article-title":"Systematic review of clinical characteristics and genotype-phenotype correlation in LAMB2-associated disease","volume":"8","author":"Suzuki","year":"2023","journal-title":"Kidney Int Rep"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624000609?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624000609?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T03:07:24Z","timestamp":1715224044000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896624000609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":13,"alternative-id":["S0960896624000609"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2024.03.007","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2024.03.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}