{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:06:30Z","timestamp":1791911190848,"version":"4.3.4"},"reference-count":15,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Intramural Research Grant"},{"name":"Neurological and Psychiatric Disorders"},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP17ek0109285h0001"],"award-info":[{"award-number":["JP17ek0109285h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP17kk0205001s0202"],"award-info":[{"award-number":["JP17kk0205001s0202"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP18ek0109280"],"award-info":[{"award-number":["JP18ek0109280"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP18dm0107090"],"award-info":[{"award-number":["JP18dm0107090"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP18ek0109301"],"award-info":[{"award-number":["JP18ek0109301"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP18ek0109348"],"award-info":[{"award-number":["JP18ek0109348"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP18kk020501"],"award-info":[{"award-number":["JP18kk020501"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"JSPS KAKENHI","doi-asserted-by":"publisher","award":["JP17H01539"],"award-info":[{"award-number":["JP17H01539"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","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":[[2020,1]]},"DOI":"10.1016\/j.braindev.2019.09.001","type":"journal-article","created":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T00:17:47Z","timestamp":1568765867000},"page":"93-97","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Life-threatening muscle complications of COL4A1-related disorder"],"prefix":"10.1016","volume":"42","author":[{"given":"Satomi","family":"Okano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorachi","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryosuke","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akie","family":"Okayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Kajihama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nao","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Nakau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jantima","family":"Tanboon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Azuma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2019.09.001_b0005","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.ajpath.2016.10.020","article-title":"HANAC Col4a1 mutation in mice leads to skeletal muscle alterations due to primary vascular defect","volume":"187","author":"Guiraud","year":"2017","journal-title":"Am J Pathol"},{"key":"10.1016\/j.braindev.2019.09.001_b0010","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/gim.2014.210","article-title":"The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature","volume":"17","author":"Meuwissen","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2019.09.001_b0015","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1056\/NEJMoa071906","article-title":"COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps","volume":"357","author":"Plaisier","year":"2007","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2019.09.001_b0020","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0887-8994(97)00137-9","article-title":"Walker-Warburg syndrome: neurologic features and muscle membrane structure","volume":"18","author":"Kanoff","year":"1998","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2019.09.001_b0025","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/ana.23736","article-title":"Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly","volume":"73","author":"Yoneda","year":"2013","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2019.09.001_b0030","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1111\/cge.12543","article-title":"Exome sequencing in 32 patients with anophthalmia\/microphthalmia and developmental eye defects","volume":"88","author":"Slavotinek","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2019.09.001_b0035","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1038\/s10038-019-0571-y","article-title":"Nonsense variants in STAG2 result in distinct sex-dependent phenotypes","volume":"64","author":"Aoi","year":"2019","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2019.09.001_b0040","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1136\/jmedgenet-2016-104073","article-title":"Targeted massively parallel sequencing and histological assessment of skeletal muscle for the molecular diagnosis of inherited muscle disorders","volume":"54","author":"Nishikawa","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2019.09.001_b0045","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/j.ajhg.2019.03.007","article-title":"COL4A1 mutations cause neuromuscular disease with tissue-specific mechanistic heterogeneity","volume":"104","author":"Labelle-Dumais","year":"2019","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2019.09.001_b0050","doi-asserted-by":"crossref","first-page":"2550","DOI":"10.1002\/ajmg.a.33659","article-title":"Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain","volume":"152A","author":"Plaisier","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2019.09.001_b0055","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1212\/WNL.0b013e3181c3fd12","article-title":"Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome","volume":"73","author":"Alamowhitch","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2019.09.001_b0060","doi-asserted-by":"crossref","first-page":"dmm034157","DOI":"10.1242\/dmm.034157","article-title":"Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice","volume":"11","author":"Hayashi","year":"2018","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.braindev.2019.09.001_b0065","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1007\/s00415-019-09209-z","article-title":"The hisotopathological sectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations","volume":"266","author":"Kuiman","year":"2019","journal-title":"J Neurol"},{"key":"10.1016\/j.braindev.2019.09.001_b0070","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1177\/0883073813485132","article-title":"Rhabdomyolysis associated with human parvovirus B19 infection in a patient with Fukuyama-type congenital muscular dystrophy","volume":"29","author":"Ishikawa","year":"2014","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2019.09.001_b0075","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1161\/CIRCRESAHA.117.311059","article-title":"Hypertrophic cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy","volume":"121","author":"Marian","year":"2017","journal-title":"Circ Res"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760419302931?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760419302931?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T11:09:44Z","timestamp":1576235384000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760419302931"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S0387760419302931"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2019.09.001","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Life-threatening muscle complications of COL4A1-related disorder","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2019.09.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}