{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:37:20Z","timestamp":1789205840566,"version":"build-2803163510"},"reference-count":12,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.mito.2016.10.002","type":"journal-article","created":{"date-parts":[[2016,10,10]],"date-time":"2016-10-10T16:05:35Z","timestamp":1476115535000},"page":"15-20","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":26,"special_numbering":"C","title":["Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G &gt; A and m.14484T &gt; C of the mitochondrial DNA"],"prefix":"10.1016","volume":"36","author":[{"given":"Claudia B.","family":"Catarino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Ahting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjana","family":"Gusic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arcangela","family":"Iuso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Repp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"von Livonius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.mito.2016.10.002_bb0005","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W","article-title":"Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 mutations","volume":"104","author":"Brown","year":"2001","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.mito.2016.10.002_bb0010","doi-asserted-by":"crossref","first-page":"e0146816","DOI":"10.1371\/journal.pone.0146816","article-title":"Functional characterization of three concomitant mtDNA LHON mutations shows no synergistic effect on mitochondrial activity","volume":"11","author":"Cruz-Berm\u00fadez","year":"2016","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.mito.2016.10.002_bb0015","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0017963","article-title":"NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels","volume":"6","author":"Haefeli","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.mito.2016.10.002_bb0020","first-page":"77","article-title":"Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation","volume":"57","author":"Harding","year":"1995","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.mito.2016.10.002_bb0025","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1097\/00041327-200212000-00002","article-title":"Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations","volume":"22","author":"Howell","year":"2002","journal-title":"J. Neuroophthalmol."},{"issue":"2","key":"10.1016\/j.mito.2016.10.002_bb0030","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.mito.2012.01.001","article-title":"Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells","volume":"12","author":"Invernizzi","year":"2012","journal-title":"Mitochondrion"},{"issue":"2","key":"10.1016\/j.mito.2016.10.002_bb0035","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.32.2.81","article-title":"Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations","volume":"32","author":"Riordan-Eva","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mito.2016.10.002_bb0040","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/118.2.319","article-title":"The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation","volume":"118","author":"Riordan-Eva","year":"1995","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.mito.2016.10.002_bb0045","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/0022-510X(94)90055-8","article-title":"Platelet mitochondrial function in Leber's hereditary optic neuropathy","volume":"122","author":"Smith","year":"1994","journal-title":"J. Neurol. Sci."},{"issue":"5\u20136","key":"10.1016\/j.mito.2016.10.002_bb0050","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.mito.2008.08.002","article-title":"A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients","volume":"8","author":"Tonska","year":"2008","journal-title":"Mitochondrion"},{"issue":"Pt 3","key":"10.1016\/j.mito.2016.10.002_bb0055","article-title":"Reply: parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion","volume":"139","author":"Yu-Wai-Man","year":"2016","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.mito.2016.10.002_bb0060","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.39.3.162","article-title":"Leber hereditary optic neuropathy","volume":"39","author":"Yu-Wai-Man","year":"2002","journal-title":"J. Med. Genet."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724916302057?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724916302057?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,7]],"date-time":"2018-09-07T19:54:49Z","timestamp":1536350089000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724916302057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":12,"alternative-id":["S1567724916302057"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2016.10.002","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2016.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved.","name":"copyright","label":"Copyright"}]}}