{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:48:02Z","timestamp":1789728482052,"version":"4.0.1"},"reference-count":27,"publisher":"Swets & Zeitlinger Publishers","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Genetics"],"published-print":{"date-parts":[[2001,1]]},"DOI":"10.1076\/opge.22.4.207.2220","type":"journal-article","created":{"date-parts":[[2003,2,5]],"date-time":"2003-02-05T07:21:29Z","timestamp":1044429689000},"page":"207-223","source":"Crossref","is-referenced-by-count":45,"title":["Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene"],"prefix":"10.1076","volume":"22","author":[{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter K.A.","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke","family":"Van Ghelue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy L.","family":"Vnencak-Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Staale","family":"Sund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kjell","family":"Elgjo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Jakobsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigurd","family":"Lindal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Warburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Fuglsang-Frederiksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Skullerud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"191","published-online":{"date-parts":[[2009,7,8]]},"reference":[{"key":"CIT0001","first-page":"54","volume":"10","author":"Mohr J","year":"1960","journal-title":"Acta Genet Stat Med (Basel)"},{"key":"CIT0002","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jmg.32.4.257","volume":"32","author":"Tranebjwrg L","year":"1995","journal-title":"J Med Genet"},{"key":"CIT0003","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1111\/j.1600-0420.1996.tb00751.x","volume":"74","author":"Ponjavic V","year":"1996","journal-title":"Acta Ophthalmol Scand"},{"key":"CIT0004","first-page":"177","volume":"14","author":"Jin H","year":"1996","journal-title":"A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-I), dystonia, mental deficiency and blindness. Nat Genet"},{"key":"CIT0006","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/ajmg.1320280234","volume":"28","author":"Jensen PKA","year":"1987","journal-title":"Am J Med Genet"},{"key":"CIT0008","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1073\/pnas.96.5.2141","volume":"96","author":"Koehler CM","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"CIT0010","first-page":"3567","volume":"36","author":"Harding GFA","year":"1996","journal-title":"The International Society for Clinical Electrophysiology of Vision. Vision Res"},{"key":"CIT0011","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1083\/jcb.38.1.1","volume":"38","author":"Seligman AM","year":"1968","journal-title":"J Cell Biol"},{"key":"CIT0013","first-page":"1092","volume":"62","author":"Stevenson RE","year":"1998","journal-title":"Renpenning syndrome maps to Xpi I. Am J Hum Genet"},{"key":"CIT0014","first-page":"464","volume":"8","author":"Tranebjwrg L","year":"2000","journal-title":"A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. Eur J Hum Genet"},{"key":"CIT0015","first-page":"235","volume":"14","author":"Scribanu N","year":"1975","journal-title":"Adv Neurol (Dystonia)"},{"key":"CIT0016","first-page":"303","volume":"13","author":"Hayes MW","year":"1998","journal-title":"X-linked dystonia-deafness syndrome. Mov Disord"},{"key":"CIT0017","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1097\/00129492-200107000-00017","volume":"22","author":"Merchant SN","year":"2001","journal-title":"Otol and NeurotoL"},{"key":"CIT0018","first-page":"299","volume":"355","author":"Leonard JV","year":"2000","journal-title":"I. Mitochondrial DNA defects. Lancet"},{"key":"CIT0019","first-page":"389","volume":"355","author":"Leonard JV","year":"2000","journal-title":"II. Neurodegenerative disorders and nuclear gene defects. Lancet"},{"key":"CIT0020","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1177\/088307389000500402","volume":"5","author":"Harding BN","year":"1990","journal-title":"J Child Neurol"},{"key":"CIT0021","first-page":"57","volume":"161","author":"L\u00f6nnqvist T","year":"1998","journal-title":"H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. J Neurol Sci"},{"key":"CIT0023","first-page":"163","volume":"38","author":"Shoffner JM","year":"1995","journal-title":"Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol"},{"key":"CIT0024","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/ana.410330616","volume":"33","author":"Matthews PM","year":"1993","journal-title":"Ann Neurol"},{"key":"CIT0026","first-page":"1598","volume":"63","author":"Loeffen J","year":"1998","journal-title":"The first nuclear-encoded complex i mutation in a patient with Leigh syndrome. Am J Hum Genet"},{"key":"CIT0027","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","volume":"93","author":"Casari G","year":"1998","journal-title":"Cell"},{"key":"CIT0028","first-page":"977","volume":"57","author":"De Michele G","year":"1994","journal-title":"Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatr"},{"key":"CIT0029","first-page":"1169","volume":"335","author":"Dila A","year":"1996","journal-title":"Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med"},{"key":"CIT0030","first-page":"11492","volume":"96","author":"Lodi R","year":"1999","journal-title":"Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA"},{"key":"CIT0031","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870130223"},{"key":"CIT0032","first-page":"41","volume":"97","author":"Spoendlin H","year":"1974","journal-title":"II. Temporal bone pathology in two cases of Friedreich's ataxia with vestibulo-cochlear disorders. Brain"},{"issue":"10","key":"CIT0033","first-page":"428","volume":"24","author":"Koehler CM","year":"1999","journal-title":"How membrane proteins travel across the mitochondrial intermembrane space. Trends Biochem ScL"}],"container-title":["Ophthalmic Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.tandfonline.com\/doi\/pdf\/10.1076\/opge.22.4.207.2220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T13:38:11Z","timestamp":1497533891000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.tandfonline.com\/doi\/full\/10.1076\/opge.22.4.207.2220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":27,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,7,8]]},"published-print":{"date-parts":[[2001,1]]}},"alternative-id":["10.1076\/opge.22.4.207.2220"],"URL":"https:\/\/doi.org\/10.1076\/opge.22.4.207.2220","relation":{},"ISSN":["1381-6810","1744-5094"],"issn-type":[{"value":"1381-6810","type":"print"},{"value":"1744-5094","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}