{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T04:26:42Z","timestamp":1786768002013,"version":"build-2736575974"},"reference-count":39,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","msard-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Multiple Sclerosis and Related Disorders"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1016\/j.msard.2021.103166","type":"journal-article","created":{"date-parts":[[2021,7,25]],"date-time":"2021-07-25T09:30:33Z","timestamp":1627205433000},"page":"103166","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Mitochondrial Mutations in Multiple Sclerosis Patients with Atypical Optic Neuropathy"],"prefix":"10.1016","volume":"55","author":[{"given":"Yesim","family":"Beckmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cihat","family":"Uzunk\u00f6pr\u00fc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asl\u0131","family":"Suba\u015f\u0131o\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.msard.2021.103166_bib0001","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.msard.2021.103166_bib0002","first-page":"1147","article-title":"A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy","volume":"48","author":"Huoponen","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.msard.2021.103166_bib0003","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1016\/0006-291X(92)90479-5","article-title":"An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy","volume":"187","author":"Johns","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.msard.2021.103166_bib0004","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation","volume":"111","author":"Newman","year":"1991","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.msard.2021.103166_bib0005","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1001\/archopht.1993.01090040087038","article-title":"Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation","volume":"111","author":"Johns","year":"1993","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.msard.2021.103166_bib0006","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1093\/brain\/115.4.979","article-title":"Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation","volume":"115","author":"Harding","year":"1992","journal-title":"Brain"},{"key":"10.1016\/j.msard.2021.103166_bib0007","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/j.1600-0404.1995.tb07016.x","article-title":"Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation","volume":"91","author":"Olsen","year":"1995","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.msard.2021.103166_bib0008","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/0022-510X(95)00287-C","article-title":"Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings","volume":"135","author":"Jansen","year":"1996","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.msard.2021.103166_bib0009","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1002\/mus.880181417","article-title":"Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy","volume":"3","author":"Harding","year":"1995","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.msard.2021.103166_bib0011","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1007\/s11845-010-0586-z","article-title":"Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus?","volume":"179","author":"Cawley","year":"2010","journal-title":"Ir. J. Med. Sci."},{"issue":"3","key":"10.1016\/j.msard.2021.103166_bib0012","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2018-228337","article-title":"Harding's disease: an important MS mimic","volume":"12","author":"Joshi","year":"2019","journal-title":"BMJ Case Rep"},{"issue":"3","key":"10.1016\/j.msard.2021.103166_bib0014","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S1474-4422(15)00393-2","article-title":"MRI criteria for the diagnosis of multiple sclerosis: MAGNIMS consensus guidelines","volume":"15","author":"Fillipi","year":"2016","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.msard.2021.103166_bib0015","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1001\/archneur.1993.00540050082021","article-title":"Leber's hereditary optic neuropathy. New genetic considerations","volume":"50","author":"Newman","year":"1993","journal-title":"Arch. Neurol."},{"issue":"1","key":"10.1016\/j.msard.2021.103166_bib0016","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/brain\/124.1.209","article-title":"The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy","volume":"124","author":"Chinnery","year":"2001","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.msard.2021.103166_bib0017","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1076\/opge.23.3.191.7881","article-title":"Confirmation of the 14568 mutation in the mitochondrial ND6 gene as a causative Leber's hereditary optic neuropathy","volume":"23","author":"Fauser","year":"2002","journal-title":"Ophthalmic Genet."},{"issue":"9","key":"10.1016\/j.msard.2021.103166_bib0018","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1007\/s00417-002-0494-7","article-title":"Leber's hereditary optic neuropathy: clinical ant molecular genetic results in a patient with a point mutation at np T11253C in the ND4 gene and spontaneous recovery","volume":"240","author":"Leo-Kottler","year":"2002","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.msard.2021.103166_bib0019","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.91.13.6206","article-title":"A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia","volume":"91","author":"Jun","year":"1994","journal-title":"Proc. Natl Acad. Sci. USA"},{"issue":"4","key":"10.1016\/j.msard.2021.103166_bib0022","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.a.20456","article-title":"Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation","volume":"124A","author":"Gropman","year":"2004","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.msard.2021.103166_bib0023","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.a.20449","article-title":"Clinical variability in maternally inherited Leber hereditary optic neuropathy with the G14459A mutation","volume":"124A","author":"Tarnopolsky","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.msard.2021.103166_bib0024","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1002\/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R","article-title":"The mitochondrial DNA G13513A transition in ND5 is associated with a LHON\/MELAS overlap syndrome and may be a frequent cause of MELAS","volume":"46","author":"Pulkes","year":"1999","journal-title":"Ann. Neurol."},{"issue":"5","key":"10.1016\/j.msard.2021.103166_bib0025","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/sj.ejhg.5201363","article-title":"LHON\/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation","volume":"13","author":"Blakely","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"issue":"24","key":"10.1016\/j.msard.2021.103166_bib0026","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1212\/01.wnl.0000437308.22603.43","article-title":"Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations","volume":"81","author":"Pfeffer","year":"2013","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.msard.2021.103166_bib0027","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/brain\/awh310","article-title":"Neuropathology of white matter disease in Leber's hereditary optic neuropathy","volume":"128","author":"Kovacs","year":"2005","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.msard.2021.103166_bib0028","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1136\/jnnp.70.4.444","article-title":"Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy","volume":"70","author":"Inglese","year":"2001","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"5","key":"10.1016\/j.msard.2021.103166_bib0029","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jnnp-2014-308186","article-title":"MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis","volume":"86","author":"Matthews","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.msard.2021.103166_bib0030","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.clineuro.2008.06.021","article-title":"Leber's optic neuropathy associated with disseminated white matter disease: a case report and review","volume":"111","author":"Perez","year":"2009","journal-title":"Clin. Neurol. Neurosurg."},{"key":"10.1016\/j.msard.2021.103166_bib0031","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.jns.2009.09.009","article-title":"Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy","volume":"286","author":"Palace","year":"2009","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.msard.2021.103166_bib0032","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.39.3.162","article-title":"Leber hereditary optic neuropathy","volume":"39","author":"Man","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.msard.2021.103166_bib0033","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s004150070153","article-title":"Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis","volume":"247","author":"Vanopdenbosch","year":"2000","journal-title":"J. Neurol."},{"key":"10.1016\/j.msard.2021.103166_bib0034","doi-asserted-by":"crossref","DOI":"10.1016\/j.neulet.2017.06.051","article-title":"Mitochondria in neuroinflammation \u2013 Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS","volume":"710","author":"Bargiela","year":"2019","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.msard.2021.103166_bib0035","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.msard.2021.103166_bib0036","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"issue":"19","key":"10.1016\/j.msard.2021.103166_bib0037","doi-asserted-by":"crossref","first-page":"8739","DOI":"10.1073\/pnas.91.19.8739","article-title":"Mitochondrial DNA sequence variation in human evolution ant disease","volume":"91","author":"Wallace","year":"1994","journal-title":"PNAS"},{"issue":"6","key":"10.1016\/j.msard.2021.103166_bib0038","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1086\/375537","article-title":"Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy","volume":"72","author":"Howell","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.msard.2021.103166_bib0039","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.bbrc.2009.06.102","article-title":"Novel A14841G mutation is associated with high penetrance of LHON\/C4171A family","volume":"4","author":"Yang","year":"2009","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"5","key":"10.1016\/j.msard.2021.103166_bib0040","first-page":"1238","article-title":"A mitochondrial mutation at nt 91901 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber Heraditary Optic neuroretinopathy","volume":"56","author":"Lamminen","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.msard.2021.103166_bib0041","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"},{"key":"10.1016\/j.msard.2021.103166_bib0042","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1007\/s12325-018-0776-z","article-title":"Current and emerging treatment modalities for Leber's Hereditary Optic Neuropathy: a Review of the Literature","volume":"35","author":"Theodorou-Kanakari","year":"2018","journal-title":"Adv. Ther."},{"key":"10.1016\/j.msard.2021.103166_bib0043","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/WNO.0000000000000570","article-title":"International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy","volume":"37","author":"Carelli","year":"2017","journal-title":"J. Neuroophthalmol."}],"container-title":["Multiple Sclerosis and Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2211034821004338?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2211034821004338?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T03:31:23Z","timestamp":1786764683000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2211034821004338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":39,"alternative-id":["S2211034821004338"],"URL":"https:\/\/doi.org\/10.1016\/j.msard.2021.103166","relation":{},"ISSN":["2211-0348"],"issn-type":[{"value":"2211-0348","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial Mutations in Multiple Sclerosis Patients with Atypical Optic Neuropathy","name":"articletitle","label":"Article Title"},{"value":"Multiple Sclerosis and Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.msard.2021.103166","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"103166"}}