{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T23:07:26Z","timestamp":1793056046292,"version":"4.5.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["AVOZ 5011922"],"award-info":[{"award-number":["AVOZ 5011922"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NR 7790-3"],"award-info":[{"award-number":["NR 7790-3"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["VZ111100003"],"award-info":[{"award-number":["VZ111100003"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2004,8]]},"DOI":"10.1016\/j.jns.2004.05.001","type":"journal-article","created":{"date-parts":[[2004,7,7]],"date-time":"2004-07-07T14:52:32Z","timestamp":1089211952000},"page":"149-155","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family"],"prefix":"10.1016","volume":"223","author":[{"given":"Vilma","family":"Kaplanov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u0131\u0301","family":"Zeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hans\u0131\u0301kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leona","family":"\u010cern\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hou\u0161t'kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u011b\u017eda","family":"Mi\u0161ovicov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Hou\u0161t\u011bk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2004.05.001_BIB1","unstructured":"MITOMAP: A Human Mitochondrial Genome Database. http:\/\/www.mitomap.org."},{"key":"10.1016\/j.jns.2004.05.001_BIB2","unstructured":"Online Mendelian Inheritance in Man OTJHU, Baltimore, MD. http:\/\/www.ncbi.nlm.nih.gov\/Omim\/ MIM Number: #535000."},{"key":"10.1016\/j.jns.2004.05.001_BIB3","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/0014-5793(91)80886-8","article-title":"Electron transfer properties of NADH:ubiquinone reductase in the ND1\/3460 and the ND4\/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)","volume":"292","author":"Majander","year":"1991","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jns.2004.05.001_BIB4","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"},{"key":"10.1016\/j.jns.2004.05.001_BIB5","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ana.410440208","article-title":"The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy","volume":"44","author":"Cock","year":"1998","journal-title":"Ann. Neurol"},{"key":"10.1016\/j.jns.2004.05.001_BIB6","doi-asserted-by":"crossref","first-page":"39831","DOI":"10.1074\/jbc.M006476200","article-title":"Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation","volume":"275","author":"Brown","year":"2000","journal-title":"J. Biol. Chem"},{"key":"10.1016\/j.jns.2004.05.001_BIB7","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/0014-5793(94)00971-6","article-title":"Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy","volume":"352","author":"Degli Esposti","year":"1994","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jns.2004.05.001_BIB8","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1212\/WNL.48.6.1623","article-title":"Leber's hereditary optic neuropathy: biochemical effect of 11778\/ND4 and 3460\/ND1 mutations and correlation with the mitochondrial genotype","volume":"48","author":"Carelli","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2004.05.001_BIB9","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1136\/jnnp.72.6.805","article-title":"Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy","volume":"72","author":"Lodi","year":"2002","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.jns.2004.05.001_BIB10","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1093\/hmg\/11.4.431","article-title":"Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells","volume":"11","author":"Wong","year":"2002","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB11","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0168-9525(03)00072-6","article-title":"Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear\u2013mitochondrial interaction","volume":"19","author":"Carelli","year":"2003","journal-title":"Trends Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB12","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nat. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB13","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"Alexander","year":"2000","journal-title":"Nat. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB14","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/0076-6879(92)15052-E","article-title":"Studying the platelet cytoskeleton in triton X-lysates","volume":"215","author":"Fox","year":"1992","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.jns.2004.05.001_BIB15","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5","article-title":"Tissue distribution of the ND4\/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy","volume":"9","author":"Juvonen","year":"1997","journal-title":"Human Mutat"},{"key":"10.1016\/j.jns.2004.05.001_BIB16","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","article-title":"Biochemical and molecular investigations in respiratory chain deficiencies","volume":"228","author":"Rustin","year":"1994","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jns.2004.05.001_BIB17","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0076-6879(69)13005-0","article-title":"Citrate synthase","volume":"13","author":"Srere","year":"1969","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.jns.2004.05.001_BIB18","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with Folin phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J. Biol. Chem"},{"key":"10.1016\/j.jns.2004.05.001_BIB19","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/ajmg.1320420208","article-title":"Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy","volume":"42","author":"Zhu","year":"1992","journal-title":"Am. J. Med. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB20","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1001\/archopht.1993.01090110052022","article-title":"Heteroplasmy in Leber's hereditary optic neuropathy","volume":"111","author":"Smith","year":"1993","journal-title":"Arch. Ophthalmol"},{"key":"10.1016\/j.jns.2004.05.001_BIB21","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S0022-510X(99)00088-X","article-title":"Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"165","author":"Cock","year":"1999","journal-title":"J. Neurol. Sci"},{"key":"10.1016\/j.jns.2004.05.001_BIB22","series-title":"12th European bioenergetics conference","first-page":"189","article-title":"Bioenergetic consequences of homoplasmic LHON mutations","author":"Kunz","year":"2002"},{"key":"10.1016\/j.jns.2004.05.001_BIB23","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"},{"key":"10.1016\/j.jns.2004.05.001_BIB24","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O","article-title":"Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?","volume":"98","author":"Chinnery","year":"2001","journal-title":"Am. J. Med. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB25","first-page":"203","article-title":"A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation","volume":"55","author":"Howell","year":"1994","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB26","first-page":"2561","article-title":"Mitochondrial DNA mutation in Leber's hereditary optic neuropathy","volume":"33","author":"Yen","year":"1992","journal-title":"Invest. Ophthalmol. Vis. Sci"},{"key":"10.1016\/j.jns.2004.05.001_BIB27","first-page":"813","article-title":"mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy","volume":"48","author":"Cormier","year":"1991","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB28","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/emboj\/20.6.1215","article-title":"Multiple classes of stem cells in cutaneous epithelium: a lineage analysis of adult mouse skin","volume":"20","author":"Ghazizadeh","year":"2001","journal-title":"EMBO J"},{"key":"10.1016\/j.jns.2004.05.001_BIB29","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1002\/elps.200390149","article-title":"High levels of mitochondrial DNA heteroplasmy in single hair roots: reanalysis and revision","volume":"24","author":"Grzybowski","year":"2003","journal-title":"Electrophoresis"},{"key":"10.1016\/j.jns.2004.05.001_BIB30","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/ng1096-146","article-title":"Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA","volume":"14","author":"Jenuth","year":"1996","journal-title":"Nat. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB31","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1093\/hmg\/8.9.1751","article-title":"Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA","volume":"8","author":"Vergani","year":"1999","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB32","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1086\/302049","article-title":"Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy [letter]","volume":"63","author":"Howell","year":"1998","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB33","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1001\/archopht.1993.01090110057023","article-title":"Identical twins who are discordant for Leber's hereditary optic neuropathy","volume":"111","author":"Johns","year":"1993","journal-title":"Arch. Ophthalmol"},{"key":"10.1016\/j.jns.2004.05.001_BIB34","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/bjo.83.5.577","article-title":"Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy","volume":"83","author":"Tsao","year":"1999","journal-title":"Br. J. Ophthalmol"},{"key":"10.1016\/j.jns.2004.05.001_BIB35","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S0002-9394(00)00603-6","article-title":"A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy","volume":"130","author":"Kerrison","year":"2000","journal-title":"Am. J. Ophthalmol"},{"key":"10.1016\/j.jns.2004.05.001_BIB36","first-page":"325","article-title":"Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing","volume":"58","author":"Ghosh","year":"1996","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.jns.2004.05.001_BIB37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0022-510X(99)00207-5","article-title":"Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals","volume":"172","author":"Howell","year":"2000","journal-title":"J. Neurol. Sci"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X04001443?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X04001443?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:37:47Z","timestamp":1758382667000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X04001443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["S0022510X04001443"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2004.05.001","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2004,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2004.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}