{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:49:34Z","timestamp":1781081374565,"version":"3.54.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2023,7]]},"DOI":"10.1016\/j.nmd.2023.05.003","type":"journal-article","created":{"date-parts":[[2023,5,13]],"date-time":"2023-05-13T02:10:47Z","timestamp":1683943847000},"page":"605-609","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Titin related myopathy with ophthalmoplegia. A novel phenotype"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4378-0038","authenticated-orcid":false,"given":"Issa","family":"Alawneh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko E.","family":"Yuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Amburgey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Dowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili-Naz","family":"Hazrati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hernan","family":"Gonorazky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.nmd.2023.05.003_bib0001","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1161\/hh2301.100981","article-title":"Complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system","volume":"89","author":"Bang","year":"2001","journal-title":"Circ Res"},{"issue":"21","key":"10.1016\/j.nmd.2023.05.003_bib0002","doi-asserted-by":"crossref","first-page":"3482","DOI":"10.1093\/bioinformatics\/btx424","article-title":"TITINdb-a computational tool to assess titin's role as a disease gene","volume":"33","author":"Laddach","year":"2017","journal-title":"Bioinformatics"},{"issue":"11","key":"10.1016\/j.nmd.2023.05.003_bib0003","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1161\/01.RES.86.11.1114","article-title":"Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity","volume":"86","author":"Freiburg","year":"2000","journal-title":"Circ Res"},{"key":"10.1016\/j.nmd.2023.05.003_bib0004","doi-asserted-by":"crossref","unstructured":"Savarese M, Jonson PH, Huovinen S, Paulin L, Auvinen P, Udd B, Hackman P. The complexity of titin splicing pattern in human adult skeletal muscles. Skelet Muscle. 2018 Mar 29;8(1):11. doi:10.1186\/s13395-018-0156-z. PMID: 29598826; PMCID: PMC5874998.","DOI":"10.1186\/s13395-018-0156-z"},{"issue":"6","key":"10.1016\/j.nmd.2023.05.003_bib0005","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1002\/ana.25241","article-title":"Congenital titinopathy: comprehensive characterization and pathogenic insights","volume":"83","author":"Oates","year":"2018","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2023.05.003_bib0006","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00401-020-02257-0","article-title":"Making sense of missense variants in TTN-related congenital myopathies","volume":"141","author":"Rees","year":"2021","journal-title":"Acta Neuropathol"},{"issue":"11","key":"10.1016\/j.nmd.2023.05.003_bib0007","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.nmd.2020.09.032","article-title":"The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies","volume":"30","author":"Perrin","year":"2020","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2023.05.003_bib0008","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1097\/WCO.0000000000000850","article-title":"The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?","volume":"33","author":"Udd","year":"2020","journal-title":"Curr Opin Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2023.05.003_bib0009","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/ana.22119","article-title":"RYR1 mutations are a common cause of congenital myopathies with central nuclei","volume":"68","author":"Wilmshurst","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2023.05.003_bib0010","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2020.11.002","article-title":"The phenotype and genotype of congenital myopathies based on a large pediatric cohort","volume":"115","author":"Natera-de Benito","year":"2021","journal-title":"Pediatr Neurol"},{"issue":"386","key":"10.1016\/j.nmd.2023.05.003_bib0011","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"Cummings BB","year":"2017","journal-title":"Sci Transl Med"},{"issue":"5","key":"10.1016\/j.nmd.2023.05.003_bib0012","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1001\/jamaneurol.2017.4899","article-title":"Interpreting genetic variants in Titin in patients with muscle disorders","volume":"75","author":"Savarese","year":"2018","journal-title":"JAMA Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623001402?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623001402?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:53Z","timestamp":1760775233000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623001402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["S0960896623001402"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.05.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Titin related myopathy with ophthalmoplegia. A novel phenotype","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}