{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:26:26Z","timestamp":1791411986764,"version":"4.3.3"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"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\/501100014690","name":"Ministerium f\u00fcr Kultur und Wissenschaft des Landes Nordrhein-Westfalen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014690","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1002\/humu.24338","type":"journal-article","created":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T02:04:58Z","timestamp":1643853898000},"page":"477-486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Identification of a novel homozygous\n            <i>synthesis of cytochrome c oxidase 2<\/i>\n            variant in siblings with early\u2010onset axonal Charcot\u2010Marie\u2010Tooth disease"],"prefix":"10.1155","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9975-0092","authenticated-orcid":false,"given":"Andrea","family":"Gangfu\u00df","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibniz\u2010Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e.V Dortmund Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Rademacher","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Sickmann","sequence":"additional","affiliation":[{"name":"Leibniz\u2010Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e.V Dortmund Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhard","family":"St\u00fcve","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine University of Cambridge Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gross","sequence":"additional","affiliation":[{"name":"Institute of Clinical Genetics and Tumor Genetics Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1982-7756","authenticated-orcid":false,"given":"Nicolai","family":"Kohlschmidt","sequence":"additional","affiliation":[{"name":"Institute of Clinical Genetics and Tumor Genetics Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"F\u00f6rster","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Department of Neurology Friedrich\u2010Baur Institute  Munich Germany"},{"name":"Medical Genetic Center Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2014-2028","authenticated-orcid":false,"given":"Anne","family":"Sch\u00e4nzer","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Justus Liebig University Giessen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5833-2751","authenticated-orcid":false,"given":"Ulrike","family":"Schara\u2010Schmidt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2050-2115","authenticated-orcid":false,"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"},{"name":"Children's Hospital of Eastern Ontario Research Institute Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0737-6142","authenticated-orcid":false,"given":"Adela","family":"Della Marina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2007.07.011"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100528"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.11.009"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40348-021-00116-w"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-04-416594"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000016614.47380.2f"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26766"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.595"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.26.3025"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.8.1440"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbaexp.2006.06.001"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00045-9"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.027"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12694"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03023.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2010.00271.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp158"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2851"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2011.00350.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2021.03.005"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.T500030-MCP200"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/15513"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa323"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3844"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1042\/CS20150707"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx369"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/prca.201700073"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy208"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00638.x"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq168"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20466"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2013.00044"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32523"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx014"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24338","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24338","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:59Z","timestamp":1672332959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,16]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1002\/humu.24338"],"URL":"https:\/\/doi.org\/10.1002\/humu.24338","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,16]]},"assertion":[{"value":"2021-08-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}