{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T10:42:24Z","timestamp":1784025744916,"version":"3.55.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["FKZ 01ZX1405C"],"award-info":[{"award-number":["FKZ 01ZX1405C"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PUT0355"],"award-info":[{"award-number":["PUT0355"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1016\/j.ejmg.2018.11.006","type":"journal-article","created":{"date-parts":[[2018,11,10]],"date-time":"2018-11-10T11:58:02Z","timestamp":1541851082000},"page":"103572","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11"],"prefix":"10.1016","volume":"62","author":[{"given":"Karit","family":"Reinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reka","family":"Kovacs-Nagy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve","family":"\u00d5iglane-Shlik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5435-0781","authenticated-orcid":false,"given":"Sander","family":"Pajusalu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margit","family":"N\u00f5ukas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth T.","family":"Wintjes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans C.A.","family":"van den Brandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaike","family":"Brink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Till","family":"Acker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Ahting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Sch\u00e4nzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5227-3527","authenticated-orcid":false,"given":"Richard J.","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2018.11.006_bib1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/ajmg.1320530205","article-title":"Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?","volume":"53","author":"Bird","year":"1994","journal-title":"Am. J. Med. Genet."},{"issue":"52","key":"10.1016\/j.ejmg.2018.11.006_bib2","doi-asserted-by":"crossref","first-page":"50311","DOI":"10.1074\/jbc.M209166200","article-title":"Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits","volume":"277","author":"Carroll","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"9","key":"10.1016\/j.ejmg.2018.11.006_bib3","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1136\/jmedgenet-2012-101159","article-title":"Complex I deficiency: clinical features, biochemistry and molecular genetics","volume":"49","author":"Fassone","year":"2012","journal-title":"J. Med. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2018.11.006_bib4","doi-asserted-by":"crossref","first-page":"412","DOI":"10.11622\/smedj.2015112","article-title":"Haematological abnormalities in mitochondrial disorders","volume":"56","author":"Finsterer","year":"2015","journal-title":"Singap. Med. J."},{"issue":"5","key":"10.1016\/j.ejmg.2018.11.006_bib5","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ejmg.2018.11.006_bib6","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.modgep.2006.07.004","article-title":"Expression of Ndufb11 encoding the neuronal protein 15.6 during neurite outgrowth and development","volume":"7","author":"Gurok","year":"2007","journal-title":"Gene Expr. Patterns : GEP"},{"issue":"5","key":"10.1016\/j.ejmg.2018.11.006_bib7","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.mito.2012.07.106","article-title":"Molecular base of biochemical complex I deficiency","volume":"12","author":"Hoefs","year":"2012","journal-title":"Mitochondrion"},{"issue":"5","key":"10.1016\/j.ejmg.2018.11.006_bib8","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1007\/s10545-012-9492-z","article-title":"Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases","volume":"35","author":"Koene","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ejmg.2018.11.006_bib9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005679","article-title":"A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies","volume":"12","author":"Kohda","year":"2016","journal-title":"PLoS Genet."},{"issue":"14","key":"10.1016\/j.ejmg.2018.11.006_bib10","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"15","key":"10.1016\/j.ejmg.2018.11.006_bib11","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1182\/blood-2016-05-719062","article-title":"A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia","volume":"128","author":"Lichtenstein","year":"2016","journal-title":"Blood"},{"issue":"12","key":"10.1016\/j.ejmg.2018.11.006_bib12","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1172\/JCI119481","article-title":"Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency","volume":"99","author":"Luo","year":"1997","journal-title":"J. Clin. Invest."},{"issue":"1","key":"10.1016\/j.ejmg.2018.11.006_bib13","doi-asserted-by":"crossref","first-page":"a001271","DOI":"10.1101\/mcs.a001271","article-title":"Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11","volume":"3","author":"Rea","year":"2017","journal-title":"Cold Spring Harbor molecular case studies"},{"issue":"2","key":"10.1016\/j.ejmg.2018.11.006_bib14","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s10545-010-9081-y","article-title":"Biochemical diagnosis of mitochondrial disorders","volume":"34","author":"Rodenburg","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"7","key":"10.1016\/j.ejmg.2018.11.006_bib15","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/j.bbabio.2016.02.012","article-title":"Mitochondrial complex I-linked disease","volume":"1857","author":"Rodenburg","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"issue":"9","key":"10.1016\/j.ejmg.2018.11.006_bib16","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1002\/ajmg.a.37138","article-title":"Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy","volume":"167A","author":"Shehata","year":"2015","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2018.11.006_bib17","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1111\/cge.12790","article-title":"A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia","volume":"91","author":"Torraco","year":"2017","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2018.11.006_bib18","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.ajhg.2015.02.002","article-title":"Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome","volume":"96","author":"van Rahden","year":"2015","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2018.11.006_bib19","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.bbadis.2006.12.009","article-title":"Superoxide production is inversely related to complex I activity in inherited complex I deficiency","volume":"1772","author":"Verkaart","year":"2007","journal-title":"Bba-Mol Basis Dis"},{"issue":"7616","key":"10.1016\/j.ejmg.2018.11.006_bib20","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1038\/nature19095","article-title":"Structure of mammalian respiratory complex I","volume":"536","author":"Zhu","year":"2016","journal-title":"Nature"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218302659?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218302659?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:47:07Z","timestamp":1761709627000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721218302659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["S1769721218302659"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103572"}}