{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:36:52Z","timestamp":1769834212323,"version":"3.49.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":746,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015250","name":"NIHR Bristol Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015250","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003776","name":"Newcastle upon Tyne Hospitals NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003776","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/j.mito.2011.03.004","type":"journal-article","created":{"date-parts":[[2011,3,11]],"date-time":"2011-03-11T06:42:41Z","timestamp":1299825761000},"page":"620-622","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON"],"prefix":"10.1016","volume":"11","author":[{"given":"Gavin","family":"Hudson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Yu-Wai-Man","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip G.","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick F.","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.mito.2011.03.004_bb0005","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1093\/hmg\/8.4.711","article-title":"Association of an extended haplotype in the tau gene with progressive supranuclear palsy","volume":"8","author":"Baker","year":"1999","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.mito.2011.03.004_bb0010","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.ophtha.2004.06.034","article-title":"Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy","volume":"112","author":"Barboni","year":"2005","journal-title":"Ophthalmology"},{"issue":"4","key":"10.1016\/j.mito.2011.03.004_bb0015","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 primary mutations","volume":"104","author":"Brown","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.mito.2011.03.004_bb0020","doi-asserted-by":"crossref","first-page":"8198","DOI":"10.1073\/pnas.88.18.8198","article-title":"X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation","volume":"88","author":"Bu","year":"1991","journal-title":"Proc. Natl Acad. Sci. U.S.A."},{"issue":"6","key":"10.1016\/j.mito.2011.03.004_bb0025","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1097\/00005072-199906000-00011","article-title":"Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau","volume":"58","author":"Bugiani","year":"1999","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"1","key":"10.1016\/j.mito.2011.03.004_bb0030","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","article-title":"Mitochondrial dysfunction as a cause of optic neuropathies","volume":"23","author":"Carelli","year":"2004","journal-title":"Prog. Retin. Eye Res."},{"issue":"3","key":"10.1016\/j.mito.2011.03.004_bb0035","first-page":"692","article-title":"X-chromosomal gene in Leber hereditary optic neuroretinopathy","volume":"49","author":"Chen","year":"1991","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.mito.2011.03.004_bb0040","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1007\/s004010051052","article-title":"A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy","volume":"98","author":"Delisle","year":"1999","journal-title":"Acta Neuropathol."},{"issue":"6","key":"10.1016\/j.mito.2011.03.004_bb0045","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1074\/jbc.M210285200","article-title":"Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium","volume":"278","author":"Ghelli","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2011.03.004_bb0050","first-page":"490","article-title":"Errors and linkage disequilibrium interact multiplicatively when computing sample sizes for genetic case-control association studies","author":"Gordon","year":"2003","journal-title":"Pac. Symp. Biocomput."},{"issue":"2","key":"10.1016\/j.mito.2011.03.004_bb0055","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/ana.21192","article-title":"Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease.","volume":"62","author":"Goris","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2011.03.004_bb0060","first-page":"2443","article-title":"Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)","volume":"14","author":"Guy","year":"2008","journal-title":"Mol. Vis."},{"issue":"1","key":"10.1016\/j.mito.2011.03.004_bb0065","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":"22","key":"10.1016\/j.mito.2011.03.004_bb0070","doi-asserted-by":"crossref","first-page":"13155","DOI":"10.1074\/jbc.271.22.13155","article-title":"Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy","volume":"271","author":"Hofhaus","year":"1996","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.mito.2011.03.004_bb0075","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1086\/498176","article-title":"Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder","volume":"77","author":"Hudson","year":"2005","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.mito.2011.03.004_bb0080","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/519394","article-title":"Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background","volume":"81","author":"Hudson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.mito.2011.03.004_bb0085","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1176\/appi.ajp.2007.06091456","article-title":"Association of the tau haplotype H2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia","volume":"164","author":"Laws","year":"2007","journal-title":"Am. J. Psychiatry"},{"issue":"1\u20132","key":"10.1016\/j.mito.2011.03.004_bb0090","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.jns.2005.03.015","article-title":"Neurofilament phosphoforms: surrogate markers for axonal injury, degeneration and loss","volume":"233","author":"Petzold","year":"2005","journal-title":"J. Neurol. Sci."},{"issue":"2","key":"10.1016\/j.mito.2011.03.004_bb0095","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.expneurol.2008.06.008","article-title":"Phosphorylation and compactness of neurofilaments in multiple sclerosis: indicators of axonal pathology","volume":"213","author":"Petzold","year":"2008","journal-title":"Exp. Neurol."},{"issue":"11","key":"10.1016\/j.mito.2011.03.004_bb0100","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1093\/jnen\/59.11.990","article-title":"Tau gene mutation K257T causes a tauopathy similar to Pick's disease","volume":"59","author":"Rizzini","year":"2000","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"1","key":"10.1016\/j.mito.2011.03.004_bb0105","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.mito.2011.03.004_bb0110","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1086\/424492","article-title":"Linkage disequilibrium and association of MAPT H1 in Parkinson disease","volume":"75","author":"Skipper","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2011.03.004_bb0115","doi-asserted-by":"crossref","unstructured":"Taylor, R.W., Taylor, G.A., Durham, S.E., Turnbull, D.M., 2001. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res. 29 (15) (Aug. 1), E74-4.","DOI":"10.1093\/nar\/29.15.e74"},{"issue":"11","key":"10.1016\/j.mito.2011.03.004_bb0120","doi-asserted-by":"crossref","first-page":"2896","DOI":"10.1523\/JNEUROSCI.4674-06.2007","article-title":"Missorting of tau in neurons causes degeneration of synapses that can be rescued by the kinase MARK2\/Par-1","volume":"27","author":"Thies","year":"2007","journal-title":"J. Neurosci."},{"issue":"1","key":"10.1016\/j.mito.2011.03.004_bb0125","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1212\/01.wnl.0000304051.01650.23","article-title":"Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study","volume":"71","author":"Tobin","year":"2008","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.mito.2011.03.004_bb0130","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1016\/j.neurobiolaging.2007.11.019","article-title":"Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease","volume":"30","author":"Vandrovcova","year":"2009","journal-title":"Neurobiol. Aging"}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724911000420?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724911000420?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:20:59Z","timestamp":1761589259000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724911000420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S1567724911000420"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2011.03.004","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2011.03.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier B.V. and Mitochondria Research Society.","name":"copyright","label":"Copyright"}]}}