{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T09:46:41Z","timestamp":1768816001895,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20H03592"],"award-info":[{"award-number":["20H03592"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K06961"],"award-info":[{"award-number":["21K06961"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K11562"],"award-info":[{"award-number":["22K11562"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K07497"],"award-info":[{"award-number":["22K07497"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23K14766"],"award-info":[{"award-number":["23K14766"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23K14553"],"award-info":[{"award-number":["23K14553"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23K06973"],"award-info":[{"award-number":["23K06973"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23H03065"],"award-info":[{"award-number":["23H03065"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23bm1223001s0102"],"award-info":[{"award-number":["JP23bm1223001s0102"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109617s0402"],"award-info":[{"award-number":["JP23ek0109617s0402"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ak0101195s0101"],"award-info":[{"award-number":["JP23ak0101195s0101"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1111\/nan.13004","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T09:25:30Z","timestamp":1722504330000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel homozygous nonsense variant in <i>COL12A1<\/i> causes myopathic Ehlers\u2010Danlos syndrome: A case report and literature review"],"prefix":"10.1111","volume":"50","author":[{"given":"Rasha","family":"El Sherif","sequence":"first","affiliation":[{"name":"Myo\u2010Care Neuromuscular Center Myo\u2010Care National Foundation  Cairo Egypt"},{"name":"School of Medicine New Giza University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1643-4797","authenticated-orcid":false,"given":"Yoshihiko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasha S.","family":"Hussein","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, Intervention and Molecular Imaging, Faculty of Medicine Ain Shams University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yayoi","family":"Izu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Animal Science, Faculty of Veterinary Medicine Okayama University of Science  Okayama Japan"},{"name":"Laboratory of Comparative Cellular Biology Nippon Veterinary and Life Science University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Koch","sequence":"additional","affiliation":[{"name":"Institute for Dental Research and Oral Musculoskeletal Biology and Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt627"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63328"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.13076"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010023\u201008644\u20106"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100840\u20103"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010237"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi025"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000271387.10404.4e"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.12.007"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13534"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50882"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u201094\u2010007\u20107893\u20101"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2020.10.004"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2023.1129000"}],"container-title":["Neuropathology and Applied Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nan.13004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T04:07:55Z","timestamp":1724904475000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nan.13004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1111\/nan.13004"],"URL":"https:\/\/doi.org\/10.1111\/nan.13004","archive":["Portico"],"relation":{},"ISSN":["0305-1846","1365-2990"],"issn-type":[{"value":"0305-1846","type":"print"},{"value":"1365-2990","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"2024-03-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e13004"}}