{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T02:20:06Z","timestamp":1790389206802,"version":"4.1.0"},"reference-count":190,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T00:00:00Z","timestamp":1099267200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2004,11]]},"DOI":"10.1038\/sj.eye.6701591","type":"journal-article","created":{"date-parts":[[2004,11,8]],"date-time":"2004-11-08T10:56:04Z","timestamp":1099911364000},"page":"1144-1160","source":"Crossref","is-referenced-by-count":135,"title":["Hereditary optic neuropathies"],"prefix":"10.1038","volume":"18","author":[{"given":"N J","family":"Newman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Biousse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,11,8]]},"reference":[{"key":"BF6701591_CR1","first-page":"741","volume-title":"Walsh & Hoyt Clinical Neuro-Ophthalmology","author":"NJ Newman","year":"1999","unstructured":"Newman NJ . Hereditary optic neuropathies. In: Miller NR, Newman NJ (eds). Walsh & Hoyt Clinical Neuro-Ophthalmology, Vol. 1, 5th edn. Williams & Wilkins: Baltimore, 1999 pp 741\u2013773."},{"key":"BF6701591_CR2","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/S0896-1549(05)70252-2","volume":"14","author":"V Biousse","year":"2001","unstructured":"Biousse V, Newman NJ . Hereditary optic neuropathies. Ophthalmol Clin NA 2001; 14: 547\u2013568.","journal-title":"Ophthalmol Clin NA"},{"key":"BF6701591_CR3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF01694557","volume":"17","author":"T Leber","year":"1871","unstructured":"Leber T . \u00dcber hereditare und congenitalangelegte sehnervenleiden. Albrecht von Graefe's Arch Ophthalmol 1871; 17: 249\u2013291.","journal-title":"Albrecht von Graefe's Arch Ophthalmol"},{"key":"BF6701591_CR4","first-page":"266","volume":"4","author":"A von Graefe","year":"1858","unstructured":"von Graefe A . Ein ungewohnlicher fall von hereditare amaurose. Arch Ophthalmol 1858; 4: 266\u2013268.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR5","volume-title":"La Maladie de Leber Etude Clinique et Genetique \u00e0 Propos de 86 Cas Examines","author":"R Asseman","year":"1958","unstructured":"Asseman R . La Maladie de Leber Etude Clinique et Genetique \u00e0 Propos de 86 Cas Examines. Th\u00e8se, Universitaire de Lille, 1958."},{"key":"BF6701591_CR6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00573524","volume":"17","author":"AHC Van Senus","year":"1963","unstructured":"Van Senus AHC . Leber's disease in the Netherlands. Doc Ophthalmol 1963; 17: 1\u2013163.","journal-title":"Doc Ophthalmol"},{"key":"BF6701591_CR7","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","volume":"111","author":"NJ Newman","year":"1991","unstructured":"Newman NJ, Lott MT, Wallace DC . The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111: 750\u2013762.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR8","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1442-9071.1992.tb00937.x","volume":"20","author":"D Mackey","year":"1992","unstructured":"Mackey D, Buttery RG . Leber hereditary optic neuropathy in Australia. Aust N Z J Ophthalmol 1992; 20: 177\u2013184.","journal-title":"Aust N Z J Ophthalmol"},{"key":"BF6701591_CR9","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/118.2.319","volume":"118","author":"P Riordan\u2013Eva","year":"1995","unstructured":"Riordan\u2013Eva P, Sanders MD, Govan GG, Sweeney MC, DaCosta J, Harding AE . The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319\u2013337.","journal-title":"Brain"},{"key":"BF6701591_CR10","first-page":"96","volume":"39","author":"Y Hotta","year":"1995","unstructured":"Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y et al. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol 1995; 39: 96\u2013108.","journal-title":"Jpn J Ophthalmol"},{"key":"BF6701591_CR11","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/S0161-6420(96)30665-9","volume":"103","author":"EK Nikoskelainen","year":"1996","unstructured":"Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML . Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996; 103: 504\u2013514.","journal-title":"Ophthalmology"},{"key":"BF6701591_CR12","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1076\/noph.22.3.187.3724","volume":"22","author":"K Yamada","year":"1999","unstructured":"Yamada K, Oguchi Y, Hotta Y, Nakamura M, Isashiki Y, Mashima Y . Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts. Neuro-ophthalmology 1999; 22: 187\u2013193.","journal-title":"Neuro-ophthalmology"},{"key":"BF6701591_CR13","first-page":"169","volume":"100","author":"AA Sadun","year":"2002","unstructured":"Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros P, Sadun F et al. A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. Trans Am Ophthalmol Soc 2002; 100: 169\u2013180.","journal-title":"Trans Am Ophthalmol Soc"},{"key":"BF6701591_CR14","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0021-5155(01)00460-9","volume":"46","author":"M-Y Yen","year":"2002","unstructured":"Yen M-Y, Wang A-G, Chang W-L, Hsu W-M, Liu J-H, Wei Y-H . Leber's hereditary optic neuropathy-the spectrum of mitochondrial DNA mutations in Chinese patients. Jpn J Ophthalmol 2002; 46: 45\u201351.","journal-title":"Jpn J Ophthalmol"},{"key":"BF6701591_CR15","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","volume":"242","author":"DC Wallace","year":"1988","unstructured":"Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427\u20131430.","journal-title":"Science"},{"key":"BF6701591_CR16","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1001\/archneur.1993.00540050082021","volume":"50","author":"NJ Newman","year":"1993","unstructured":"Newman NJ . Leber's hereditary optic neuropathy: new genetic considerations. Arch Neurol 1993; 50: 540\u2013548.","journal-title":"Arch Neurol"},{"key":"BF6701591_CR17","first-page":"481","volume":"59","author":"DA Mackey","year":"1996","unstructured":"Mackey DA, Oostra R-J, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. (Letter). Am J Hum Genet 1996; 59: 481\u2013485.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR18","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/brain\/124.1.209","volume":"124","author":"PF Chinnery","year":"2001","unstructured":"Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001; 124: 209\u2013218.","journal-title":"Brain"},{"key":"BF6701591_CR19","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s100480100115","volume":"3","author":"K Huoponen","year":"2001","unstructured":"Huoponen, K . Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 2001; 3: 119\u2013125.","journal-title":"Neurogenetics"},{"key":"BF6701591_CR20","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.39.3.162","volume":"39","author":"PYW Man","year":"2002","unstructured":"Man PYW, Turnbull DM, Chinnery PF . Leber hereditary optic neuropathy. J Med Genet 2002; 39: 162\u2013169.","journal-title":"J Med Genet"},{"key":"BF6701591_CR21","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P","volume":"48","author":"PF Chinnery","year":"2000","unstructured":"Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000; 48: 188\u2013193.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR22","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1086\/346066","volume":"72","author":"PYW Man","year":"2003","unstructured":"Man PYW, Griffiths PG, Brown DT . The epidemiology of Leber hereditary optic neuropathy in the north east of England. Am J Hum Genet 2003; 72: 333\u2013339.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR23","first-page":"162","volume":"2","author":"DA Mackey","year":"1994","unstructured":"Mackey DA . Epidemiology of Leber's hereditary optic neuropathy in Australia. Clin Neurosci 1994; 2: 162\u2013164.","journal-title":"Clin Neurosci"},{"key":"BF6701591_CR24","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/eye.1994.102","volume":"8","author":"DA Mackey","year":"1994","unstructured":"Mackey DA . Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye 1994; 8: 431\u2013436.","journal-title":"Eye"},{"key":"BF6701591_CR25","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1442-9071.1996.tb01545.x","volume":"24","author":"C Chan","year":"1996","unstructured":"Chan C, Mackey DA, Byrne E . Sporadic Leber hereditary optic neuropathy in Australia and New Zealand. Aust N Z J Ophthalmol 1996; 24: 7\u201314.","journal-title":"Aust N Z J Ophthalmol"},{"key":"BF6701591_CR26","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1001\/archopht.1987.01060050083043","volume":"105","author":"EK Nikoskelainen","year":"1987","unstructured":"Nikoskelainen EK, Savontaus ML, Wanne OP, Katila MJ, Nummelin KU . Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol 1987; 105: 665\u2013671.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR27","first-page":"77","volume":"57","author":"AE Harding","year":"1995","unstructured":"Harding AE, Sweeney MG, Govan GG, Riordan-Eva P . Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995; 57: 77\u201386.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR28","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/S0002-9394(14)70337-X","volume":"117","author":"D Mackey","year":"1994","unstructured":"Mackey D, Howell N . Tobacco amblyopia [Letter]. Am J Ophthalmol 1994; 117: 817\u2013818.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR29","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1093\/brain\/102.3.559","volume":"102","author":"WM Carroll","year":"1979","unstructured":"Carroll WM, Mastaglia FL . Leber's optic neuropathy. A clinical and visual evoked potential study of affected and asymptomatic members of a six generation family. Brain 1979; 102: 559\u2013580.","journal-title":"Brain"},{"key":"BF6701591_CR30","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1136\/bjo.79.5.442","volume":"79","author":"M Wakakura","year":"1995","unstructured":"Wakakura M, Yokoe J . Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy. Br J Ophthalmol 1995; 79: 442\u2013446.","journal-title":"Br J Ophthalmol"},{"key":"BF6701591_CR31","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S0002-9394(98)00152-4","volume":"126","author":"DM Jacobson","year":"1998","unstructured":"Jacobson DM, Stone EM, Miller NR, Pollock SC, Fletcher WA, McNussen PJ et al. Relative afferent papillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss. Am J Ophthalmol 1998; 126: 291\u2013295.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR32","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/S0002-9394(38)93322-7","volume":"21","author":"JE Raaf","year":"1938","unstructured":"Raaf JE, Bair HL . Leber's disease: report of four cases in one family. Am J Ophthalmol 1938; 21: 384\u2013389.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR33","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1001\/archneur.1993.00540050022009","volume":"50","author":"NC Weiner","year":"1993","unstructured":"Weiner NC, Newman NJ, Lessell S, Johns DR, Lott MT, Wallace DC . Atypical Leber's hereditary optic neuropathy with molecular confirmation. Arch Neurol 1993; 50: 470\u2013473.","journal-title":"Arch Neurol"},{"key":"BF6701591_CR34","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1001\/archopht.1973.01000050351002","volume":"90","author":"JL Smith","year":"1973","unstructured":"Smith JL, Hoyt WF, Susac JO . Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 1973; 90: 349\u2013354.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR35","first-page":"10","volume":"12","author":"EM Stone","year":"1992","unstructured":"Stone EM, Newman NJ, Miller NR, Johns DR, Lott MT, Wallace DC . Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuro\u2013Ophthalmol 1992; 12: 10\u201314.","journal-title":"J Clin Neuro\u2013Ophthalmol"},{"key":"BF6701591_CR36","first-page":"91","volume-title":"Progress in Neuro-Ophthalmology","author":"JR Brunette","year":"1969","unstructured":"Brunette JR, Bernier G . Study of a family of Leber's optic atrophy with recuperation. In: Brunette JR, Barbeau A (eds). Progress in Neuro-Ophthalmology. Excerpta Medica: Amsterdam, 1969 pp 91\u201397."},{"key":"BF6701591_CR37","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/S0140-6736(85)91354-6","volume":"1","author":"E Nikoskelainen","year":"1985","unstructured":"Nikoskelainen E, Wanne O, Dahl M . Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet 1985; 1: 696.","journal-title":"Lancet"},{"key":"BF6701591_CR38","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/S0002-9394(14)74730-0","volume":"113","author":"RG Ortiz","year":"1992","unstructured":"Ortiz RG, Newman NJ, Manoukian S, Diesenhouse MC, Lott MT, Wallace DC . Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. Am J Ophthalmol 1992; 113: 561\u2013566.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR39","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/S0140-6736(94)92830-4","volume":"344","author":"EK Nikoskelainen","year":"1994","unstructured":"Nikoskelainen EK, Savontaus ML, Huoponen J, Antila K, Hartiala J . Pre\u2013excitation syndrome in Leber's hereditary optic neuropathy. Lancet 1994; 344: 857\u2013858.","journal-title":"Lancet"},{"key":"BF6701591_CR40","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1399-0004.1996.tb02732.x","volume":"50","author":"Y Mashima","year":"1996","unstructured":"Mashima Y, Kigasawa K, Hasegawa H, Tani M, Oguchi Y . High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy. Clin Genet 1996; 50: 535\u2013537.","journal-title":"Clin Genet"},{"key":"BF6701591_CR41","first-page":"464","volume":"17","author":"J Finsterer","year":"2001","unstructured":"Finsterer J, Stollberger C, Kopsa W, Jaksch M . Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy. Can J Cardiol 2001; 17: 464\u2013466.","journal-title":"Can J Cardiol"},{"key":"BF6701591_CR42","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jnnp.59.2.160","volume":"59","author":"EK Nikoskelainen","year":"1995","unstructured":"Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P et al. Leber's \u2018plus\u2019: neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995; 59: 160\u2013164.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR43","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1093\/brain\/119.5.1481","volume":"119","author":"RM Chalmers","year":"1996","unstructured":"Chalmers RM, Harding AE . A case\u2013control study of Leber's hereditary optic neuropathy. Brain 1996; 119: 1481\u20131486.","journal-title":"Brain"},{"key":"BF6701591_CR44","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1093\/brain\/93.1.121","volume":"93","author":"DC Wallace","year":"1970","unstructured":"Wallace DC . A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain 1970; 93: 121\u2013132.","journal-title":"Brain"},{"key":"BF6701591_CR45","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/WNL.36.8.1053","volume":"36","author":"EJ Novotny","year":"1986","unstructured":"Novotny EJ, Singh G, Wallace DC, Dorfman LJ, Louis A, Sogg RL . Leber's disease and dystonia. A mitochondrial disease. Neurology 1986; 36: 1053\u20131060.","journal-title":"Neurology"},{"key":"BF6701591_CR46","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1136\/jnnp.49.5.500","volume":"49","author":"DC Marsden","year":"1986","unstructured":"Marsden DC, Lang AE, Quinn NP, McDonald WI, Abdallat A, Nimri S . Familial dystonia and visual failure with striatal CT lucencies. J Neurol Neurosurg Psychiatry 1986; 49: 500\u2013509.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR47","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0022-510X(91)90164-3","volume":"103","author":"GW Bruyn","year":"1991","unstructured":"Bruyn GW, Vielvoye GJ, Went LN . Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. J Neurol Sci 1991; 103: 195\u2013202.","journal-title":"J Neurol Sci"},{"key":"BF6701591_CR48","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1136\/jnnp.55.1.16","volume":"55","author":"V Leuzzi","year":"1992","unstructured":"Leuzzi V, Bertini E, De Negri AM, Gallucci M, Garavaglia B . Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. J Neurol Neurosurg Psychiatry 1992; 55: 16\u201319.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR49","first-page":"703","volume":"58","author":"DD De Vries","year":"1996","unstructured":"De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996; 58: 703\u2013711.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR50","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/BF00868531","volume":"243","author":"CO Hanemann","year":"1996","unstructured":"Hanemann CO, Hefter H, Schlaug G, Seitz RJ, Freund HJ, Benecke R . Characterization of basal ganglia dysfunction in Leber \u2018plus\u2019 disease. J Neurol 1996; 243: 297\u2013300.","journal-title":"J Neurol"},{"key":"BF6701591_CR51","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1212\/WNL.56.4.570","volume":"56","author":"JE Riggs","year":"2001","unstructured":"Riggs JE, Ellis BD, Hogg JP, Al-Azzaz A, Schochet Jr SS . Acute periaqueductal syndrome associated with the G11778A mitochondrial DNA mutation. Neurology 2001; 56: 570\u2013571.","journal-title":"Neurology"},{"key":"BF6701591_CR52","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1136\/jnnp.73.3.347","volume":"73","author":"M Sadler","year":"2002","unstructured":"Sadler M, Wiles CM, Stoodley N, Linnane SJ, Smith AP . Ondine's curse in a woman with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2002; 73: 347\u2013348.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR53","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/ana.10299","volume":"52","author":"B Funalot","year":"2002","unstructured":"Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont J-P, Godinot C et al. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 2002; 52: 374\u2013377.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR54","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1093\/brain\/115.4.979","volume":"115","author":"AE Harding","year":"1992","unstructured":"Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D et al. Occurrance of a multiple sclerosis\u2013like illness in women who have a Leber's hereditary optic Neuropathy Mitochondrial DNA mutation. Brain 1992; 115: 979\u2013989.","journal-title":"Brain"},{"key":"BF6701591_CR55","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1097\/00041327-199903000-00007","volume":"19","author":"MT Bhatti","year":"1999","unstructured":"Bhatti MT, Newman NJ . A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation. J Neuro-ophthalmol 1999; 19: 28\u201333.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR56","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/ana.410360121","volume":"36","author":"H Kellar\u2013Wood","year":"1994","unstructured":"Kellar\u2013Wood H, Robertson N, Govan GG, Compston DA, Harding AE . Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 1994; 36: 109\u2013112.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR57","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1600-0404.1997.tb00257.x","volume":"96","author":"V Leuzzi","year":"1997","unstructured":"Leuzzi V, Carducci C, Lanza M, Salvetti M, Ristori G, DiGiovanni S et al. LHON mutations in Italian patients affected by multiple sclerosis. Acta Neurol Scand 1997; 96: 145\u2013148.","journal-title":"Acta Neurol Scand"},{"key":"BF6701591_CR58","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3109\/01658109609044637","volume":"16","author":"M Wakakura","year":"1996","unstructured":"Wakakura M, Mogi A, Ichibe Y, Okada K, Hasebe H . Leber's hereditary optic neuropathy triggered by optic neuritis. Neuro-ophthalmology 1996; 16: 337\u2013341.","journal-title":"Neuro-ophthalmology"},{"key":"BF6701591_CR59","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1136\/jnnp.52.5.671","volume":"52","author":"AG Kermode","year":"1989","unstructured":"Kermode AG, Moseley IF, Kendall BE, Miller DH, MacManus DG, McDonald WI . Magnetic resonance imaging in Leber's optic neuropathy. J Neurol Neurosurg Psychiatry 1989; 52: 671\u2013674.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR60","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1053\/ejpn.2001.0558","volume":"6","author":"D Lev","year":"2002","unstructured":"Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T . White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Eur J Paediatr Neurol 2002; 6: 121\u2013123.","journal-title":"Eur J Paediatr Neurol"},{"key":"BF6701591_CR61","first-page":"231","volume":"10","author":"JL Smith","year":"1990","unstructured":"Smith JL, Tse DT, Byrne SF, Johns DR, Stone EM . Optic nerve sheath distention in Leber's optic neuropathy and the significance of the \u2018Wallace mutation\u2019. J Clin Neuro-Ophthalmol 1990; 10: 231\u2013238.","journal-title":"J Clin Neuro-Ophthalmol"},{"key":"BF6701591_CR62","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3109\/01658109209058120","volume":"12","author":"DR Wilson","year":"1992","unstructured":"Wilson DR, Kline LB . Leber's hereditary optic neuropathy with bilateral distended optic nerve sheaths. J Clin Neuro-Ophthalmol 1992; 12: 73\u201374.","journal-title":"J Clin Neuro-Ophthalmol"},{"key":"BF6701591_CR63","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1159\/000116781","volume":"32","author":"MT Dotti","year":"1992","unstructured":"Dotti MT, Caputo N, Signorini E, Federico A . Magnetic resonance imaging findings in Leber's hereditary optic neuropathy. Eur Neurol 1992; 32: 17\u201319.","journal-title":"Eur Neurol"},{"key":"BF6701591_CR64","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1136\/jnnp.64.1.124","volume":"64","author":"Y Mashima","year":"1998","unstructured":"Mashima Y, Oshitari K, Imamura Y, Momoshima S, Shiga H, Oguchi Y . Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1998; 64: 124\u2013127.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR65","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1136\/jnnp.70.4.444","volume":"70","author":"M Inglese","year":"2001","unstructured":"Inglese M, Rovaris M, Bianchi S, LaMantia L, Mancardi GL, Ghezzi A et al. Magnetic resonance imaging, magnetization transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2001; 70: 444\u2013449.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR66","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1097\/00041327-199912000-00006","volume":"19","author":"MS Vaphiades","year":"1999","unstructured":"Vaphiades MS, Newman NJ . Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy. J Neuro-ophthalmol 1999; 19: 238\u2013239.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR67","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1097\/00041327-200303000-00057","volume":"23","author":"MS Vaphiades","year":"2003","unstructured":"Vaphiades MS, Phillips PH, Turbin RE . Optic nerve and chiasmal enhancement in Leber hereditary optic neuropathy. J Neuro-ophthalmol 2003; 23: 104\u2013105.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR68","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1001\/archopht.121.4.577","volume":"121","author":"PH Phillips","year":"2003","unstructured":"Phillips PH, Vaphiades M, Glasier CM, Gray LG, Lee AG . Chiasmal enlargement and optic nerve enhancement on magnetic resonance imaging in Leber hereditary optic neuropathy. Arch Ophthalmol 2003; 121: 577\u2013579.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR69","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1016\/S0161-6420(95)30838-X","volume":"102","author":"JB Kerrison","year":"1995","unstructured":"Kerrison JB, Howell N, Miller NR, Hirst L, Green WR . Leber hereditary optic neuropathy: electron microscopy and molecular genetic analysis of a case. Ophthalmology 1995; 102: 1509\u20131516.","journal-title":"Ophthalmology"},{"key":"BF6701591_CR70","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1001\/archopht.116.7.911","volume":"116","author":"HG Saadati","year":"1998","unstructured":"Saadati HG, Hsu HY, Heller KB, Sadun AA . A histopathologic and morphometric differentiation of nerves in optic nerve hypoplasia and Leber hereditary optic neuropathy. Arch Ophthalmol 1998; 116: 911\u2013916.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR71","first-page":"1","volume":"98","author":"AA Sadun","year":"2000","unstructured":"Sadun AA, Win P, Ross-Cisneros F, Walker S, Carelli V . Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc 2000; 98: 1\u201313.","journal-title":"Trans Am Ophthalmol Soc"},{"key":"BF6701591_CR72","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1097\/00041327-200212000-00001","volume":"22","author":"NJ Newman","year":"2002","unstructured":"Newman NJ . From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. J Neuro-ophthalmol 2002; 22: 257\u2013261.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR73","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1086\/302716","volume":"66","author":"C Macmillan","year":"2000","unstructured":"Macmillan C, Johns TA, Fu K, Shoubridge EA . Predominance of the T14484C mutation in French\u2013Canadian families with Leber hereditary optic neuropathy is due to a founder effect. Am J Hum Genet 2000; 66: 332\u2013335.","journal-title":"Am J Hum Genet"},{"issue":"Suppl","key":"BF6701591_CR74","first-page":"A3","volume":"60","author":"V Carelli","year":"2003","unstructured":"Carelli V, Rengo C, Scozzari R, Valentino ML, Carrara F, Zeviani M et al. mtDNA haplotypes allow genealogical aggregation of apparently unrelated LHON pedigrees. Neurology 2003; 60 (Suppl): A3.","journal-title":"Neurology"},{"key":"BF6701591_CR75","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1212\/WNL.49.4.1136","volume":"49","author":"V Biousse","year":"1997","unstructured":"Biousse V, Brown MD, Newman NJ, Allen JC, Rosenfeld J, Meola G et al. De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy. Neurology 1997; 49: 1136\u20131138.","journal-title":"Neurology"},{"key":"BF6701591_CR76","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O","volume":"98","author":"PF Chinnery","year":"2001","unstructured":"Chinnery PF, Andrews RM, Turnbull DM, Howell N . Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 2001; 98: 235\u2013243.","journal-title":"Am J Med Genet"},{"key":"BF6701591_CR77","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jmg.31.4.280","volume":"31","author":"RJ Oostra","year":"1994","unstructured":"Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM . Leber's hereditary optic neuropathy. Correlations between mitochondrial genotype and visual outcome. J Med Genet 1994; 31: 280\u2013286.","journal-title":"J Med Genet"},{"key":"BF6701591_CR78","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W","volume":"104","author":"MD Brown","year":"2001","unstructured":"Brown MD, Allen JC, VanStavern GP, Newman NJ, Wallace DC . Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet 2001; 104: 331\u2013338.","journal-title":"Am J Med Genet"},{"key":"BF6701591_CR79","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1097\/00041327-200212000-00002","volume":"22","author":"N Howell","year":"2002","unstructured":"Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM et al. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. J Neuro-ophthalmol 2002; 22: 262\u2013269.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR80","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s00439-001-0660-8","volume":"110","author":"MD Brown","year":"2002","unstructured":"Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup. J Hum Genet 2002; 110: 130\u2013138.","journal-title":"J Hum Genet"},{"key":"BF6701591_CR81","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S0140-6736(89)92143-0","volume":"1","author":"I Trounce","year":"1989","unstructured":"Trounce I, Byrne E, Marzuki S . Decline in skeletal muscle mitrochondrial respiratory chain function: possible factor in aging. Lancet 1989; 1: 637\u2013639.","journal-title":"Lancet"},{"key":"BF6701591_CR82","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/S0002-9394(14)72895-8","volume":"118","author":"NJ Newman","year":"1994","unstructured":"Newman NJ, Torroni A, Brown MD, Lott MT, Fernandez MM, Wallace DC . Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1994; 118: 158\u2013168.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR83","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S0002-9394(00)00603-6","volume":"130","author":"JB Kerrison","year":"2000","unstructured":"Kerrison JB, Miller NR, Hsu F-C, Beaty TH, Maumenee IH, Smith KH et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol 2000; 130: 803\u2013812.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR84","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1007\/s004150050223","volume":"245","author":"MT Dotti","year":"1998","unstructured":"Dotti MT, Plewnia K, Cardaioli E, Manneschi L, Rufa A, Alema G et al. A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778. J Neurol 1998; 245: 302\u2013303.","journal-title":"J Neurol"},{"key":"BF6701591_CR85","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1007\/s004150170103","volume":"248","author":"M DeMarinis","year":"2001","unstructured":"DeMarinis M . Optic neuropathy after treatment with anti-tuberculous drugs in a subject with Leber's hereditary optic neuropathy mutation. J Neurol 2001; 248: 818\u2013819.","journal-title":"J Neurol"},{"key":"BF6701591_CR86","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1097\/00002030-200108170-00022","volume":"15","author":"JZ Luzhansky","year":"2001","unstructured":"Luzhansky JZ, Pierce AB, Hoy JF, Hall AJ, Anthony JH . Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity. AIDS 2001; 15: 1588\u20131589.","journal-title":"AIDS"},{"key":"BF6701591_CR87","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0002-9394(00)00716-9","volume":"131","author":"S Shaikh","year":"2001","unstructured":"Shaikh S, Ta C, Basham AA, Mansour S . Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection. Am J Ophthalmol 2001; 131: 143\u2013145.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR88","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1097\/00041327-200106000-00006","volume":"21","author":"JE Warner","year":"2001","unstructured":"Warner JE, Ries KM . Optic neuropathy in a patient with AIDS. J Neuro-ophthalmol 2001; 21: 92\u201394.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR89","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1016\/S0042-6989(97)00444-6","volume":"38","author":"N Howell","year":"1998","unstructured":"Howell N . Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. Vision Res 1998; 38: 1495\u20131504.","journal-title":"Vision Res"},{"key":"BF6701591_CR90","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1023\/A:1022626812008","volume":"29","author":"AH Schapira","year":"1997","unstructured":"Schapira AH . Mitochondrial disorders: an overview. J Bioenergetics Biomemb 1997; 29: 105\u2013107.","journal-title":"J Bioenergetics Biomemb"},{"key":"BF6701591_CR91","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1023\/A:1022685929755","volume":"29","author":"EA Schon","year":"1997","unstructured":"Schon EA, Bonilla E, DiMauro S . Mitochondrial DNA mutations and pathogenesis. J Bioenergetics Biomembranes 1997; 29: 131\u2013149.","journal-title":"J Bioenergetics Biomembranes"},{"key":"BF6701591_CR92","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ana.10426","volume":"53","author":"X Qi","year":"2003","unstructured":"Qi X, Lewin AS, Hauswirth WW, Guy J . Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 2003; 53: 198\u2013205.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR93","first-page":"121","volume-title":"Progress in Ophthalmology (Proceedings of the Second International Congress of Neuro-Genetics and Neuro-Ophthalmology)","author":"J Imachi","year":"1967","unstructured":"Imachi J . Neuro\u2013surgical treatment of Leber's optic atrophy and its pathogenetic relationship to arachnoiditis. In: Brunette JR, Barbeau A (eds). Progress in Ophthalmology (Proceedings of the Second International Congress of Neuro-Genetics and Neuro-Ophthalmology), Vol. 2. Excerpta Medica: Amsterdam, 1967 p 121."},{"key":"BF6701591_CR94","first-page":"209","volume":"21","author":"J Imachi","year":"1970","unstructured":"Imachi J, Nishizaki K . The patients of Leber's optic atrophy should be treated neuro-surgically. Nippon Ganka Kiyo Jpn 1970; 21: 209\u2013217.","journal-title":"Nippon Ganka Kiyo Jpn"},{"key":"BF6701591_CR95","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S1096-7192(02)00145-2","volume":"77","author":"V Geromel","year":"2002","unstructured":"Geromel V, Darin N, Chretien D, Benit P, DeLonlay P, Rotig A et al. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab 2002; 77: 21.","journal-title":"Mol Genet Metab"},{"key":"BF6701591_CR96","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/00041327-200020030-00006","volume":"20","author":"Y Mashima","year":"2000","unstructured":"Mashima Y, Kigasawa K, Wakakura M, Oguchi Y . Do idebenon and vitamin therapy shorten the time to achieve visual recover in Leber hereditary optic neuropathy? J Neuro-ophthalmol 2000; 20: 166\u2013170.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR97","first-page":"65","volume":"40","author":"E Yoles","year":"1999","unstructured":"Yoles E, Wheeler LA, Schwartz M . Alpha-2-adenoreceptor agonists are neuroprotective in a rat model of optic nerve degeneration. Invest Ophthalmol Vis Sci 1999; 40: 65\u201373.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BF6701591_CR98","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/ana.10354","volume":"52","author":"J Guy","year":"2002","unstructured":"Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, Carelli V et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol 2002; 52: 534\u2013542.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR99","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/ana.10387","volume":"52","author":"NG Larsson","year":"2002","unstructured":"Larsson NG . Leber's hereditary optic neuropathy: a nuclear solution of a mitochondrial problem. Ann Neurol 2002; 52: 529\u2013530.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR100","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1093\/hmg\/3.6.977","volume":"3","author":"H Eiberg","year":"1994","unstructured":"Eiberg H, Kjer B, Kjer P, Rosenberg T . Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet 1994; 3: 977\u2013980.","journal-title":"Hum Mol Genet"},{"key":"BF6701591_CR101","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","volume":"74","author":"B Kjer","year":"1996","unstructured":"Kjer B, Eiberg H, Kjer P, Rosenberg T . Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthal Scand 1996; 74: 3\u20137.","journal-title":"Acta Ophthal Scand"},{"key":"BF6701591_CR102","doi-asserted-by":"crossref","unstructured":"Kjer P . Infantile optic atrophy with dominant mode of inheritance. A clinical and genetic study of 19 Danish families. Acta Ophthalmol 1959; 37 (suppl. 54).","DOI":"10.1111\/j.1755-3768.1959.tb03493.x"},{"key":"BF6701591_CR103","first-page":"135","volume":"3","author":"P Kjer","year":"1956","unstructured":"Kjer P . Hereditary infantile optic atrophy with dominant transmission (preliminary report). Dan Med Bull 1956; 3: 135\u2013141.","journal-title":"Dan Med Bull"},{"key":"BF6701591_CR104","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/00006324-197203000-00001","volume":"49","author":"DP Smith","year":"1972","unstructured":"Smith DP . Diagnostic criteria in dominantly inherited juvenile optic atrophy: a report of three new families. Am J Optom Physiol Opt 1972; 49: 183\u2013200.","journal-title":"Am J Optom Physiol Opt"},{"key":"BF6701591_CR105","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/0002-9394(79)90565-8","volume":"88","author":"PB Johnston","year":"1979","unstructured":"Johnston PB, Gaster RN, Smith VC, Tripathi RC . A clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol 1979; 88: 868\u2013875.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR106","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1001\/archopht.1979.01020020248013","volume":"97","author":"LB Kline","year":"1979","unstructured":"Kline LB, Glaser JS . Dominant optic atrophy: The clinical profile. Arch Ophthalmol 1979; 97: 1680\u20131686.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR107","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0161-6420(80)35247-0","volume":"87","author":"CS Hoyt","year":"1980","unstructured":"Hoyt CS . Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology 1980; 87: 245\u2013251.","journal-title":"Ophthalmology"},{"key":"BF6701591_CR108","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/S0002-9394(14)73589-5","volume":"115","author":"D Elliott","year":"1993","unstructured":"Elliott D, Traboulsi EI, Maumenee IH . Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993; 115: 360\u2013367.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR109","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1001\/archopht.1997.01100150097016","volume":"115","author":"J Brown Jr","year":"1997","unstructured":"Brown Jr J, Fingert J, Taylor CM, Lake M, Sheffield VC, Stone EM . Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997; 115: 95\u201399.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR110","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1001\/archopht.1997.01100150102017","volume":"115","author":"RL Johnston","year":"1997","unstructured":"Johnston RL, Burdon MA, Spalton DJ, Bryant SP, Behnam JT, Seller MJ . Dominant optic atrophy, Kjer type. Arch Ophthalmol 1997; 115: 100\u2013103.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR111","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1001\/archopht.116.3.351","volume":"116","author":"M Votruba","year":"1998","unstructured":"Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT . Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 1998; 116: 351\u2013358.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR112","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1001\/archopht.117.6.805","volume":"117","author":"JB Kerrison","year":"1999","unstructured":"Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y et al. Genetic heterogeneity of dominant optic atrophy, Kjer type. Arch Ophthalmol 1999; 117: 805\u2013810.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR113","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0161-6420(99)90013-1","volume":"106","author":"RL Johnston","year":"1999","unstructured":"Johnston RL, Seller MJ, Behnam JT, Burdon MA, Spalton DJ . Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology 1999; 106: 123\u2013128.","journal-title":"Ophthalmology"},{"key":"BF6701591_CR114","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1097\/00006324-197207000-00006","volume":"49","author":"DP Smith","year":"1972","unstructured":"Smith DP . The assessment of acquired dyschromatopsia and clinical investigation of the acquired tritan defect in dominantly inherited juvenile atrophy. Am J Optom Physiol Opt 1972; 49: 574\u2013588.","journal-title":"Am J Optom Physiol Opt"},{"key":"BF6701591_CR115","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/bjo.87.1.48","volume":"87","author":"M Votruba","year":"2003","unstructured":"Votruba M, Thiselton D, Battacharya SS . Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 2003; 87: 48\u201353.","journal-title":"Br J Ophthalmol"},{"key":"BF6701591_CR116","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1016\/S0161-6420(01)00696-0","volume":"108","author":"AV Fournier","year":"2001","unstructured":"Fournier AV, Damji KF, Epstein DL, Pollock SC . Disc excavation in dominant optic atrophy. Differentiation from normal tension glaucoma. Ophthalmology 2001; 108: 1595\u20131602.","journal-title":"Ophthalmology"},{"key":"BF6701591_CR117","first-page":"96","volume":"99","author":"GFA Harding","year":"1979","unstructured":"Harding GFA, Crews SJ, Pitts SM . Psychophysical and visual evoked potential findings in hereditary optic atrophy. Trans Ophthalmol Soc UK 1979; 99: 96\u2013102.","journal-title":"Trans Ophthalmol Soc UK"},{"key":"BF6701591_CR118","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/BF00184274","volume":"32","author":"G Del Porto","year":"1994","unstructured":"Del Porto G, Vingolo EM, Steindl K, Forte R, Iannaccone A, Rispoli E et al. Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis. Graefe's Arch Clin Exp Ophthalmol 1994; 32: 717\u2013727.","journal-title":"Graefe's Arch Clin Exp Ophthalmol"},{"key":"BF6701591_CR119","first-page":"1190","volume":"35","author":"JD Kivlin","year":"1983","unstructured":"Kivlin JD, Lovrien EW, Bishop DT, Maumenee IH . Linkage analysis in dominant optic atrophy. Am J Hum Genet 1983; 35: 1190\u20131195.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR120","first-page":"968","volume":"57","author":"A Lunkes","year":"1995","unstructured":"Lunkes A, Hartung AU, Magarino C, Rodriguez M, Palmero A, Rodriguez L et al. Refinement of the OPAI gene locus on chromosome 3q28\u2013q29 to a region of 2\u20138\u2009cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. Am J Hum Genet 1995; 57: 968\u2013970.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR121","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s004390050323","volume":"99","author":"A Jonasdottir","year":"1997","unstructured":"Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T . Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28\u20133q29, within a 3-Mb YAC contig. Hum Genet 1997; 99: 115\u2013120.","journal-title":"Hum Genet"},{"key":"BF6701591_CR122","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","volume":"26","author":"C Delettre","year":"2000","unstructured":"Delettre C, Lenaers G, Griffoin J-M, Gigarel N, Lorenzo C, Belenguer P et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genet 2000; 26: 207\u2013210.","journal-title":"Nature Genet"},{"key":"BF6701591_CR123","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","volume":"26","author":"C Alexander","year":"2000","unstructured":"Alexander C, Votruba M, Pesch UEA, Thiselton DL, Mayer S, Moore A et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genet 2000; 26: 211\u2013215.","journal-title":"Nature Genet"},{"key":"BF6701591_CR124","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/mgme.2001.3278","volume":"75","author":"C Delettre","year":"2002","unstructured":"Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP . OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002; 75: 97\u2013107.","journal-title":"Mol Genet Metab"},{"key":"BF6701591_CR125","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/S0002-9394(02)01929-3","volume":"135","author":"S Shimizu","year":"2003","unstructured":"Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N . A novel mutation in the OPA1Gene in a Japanese patient with optic atrophy. Am J Ophthalmol 2003; 135: 256\u2013257.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR126","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","volume":"10","author":"UE Pesch","year":"2001","unstructured":"Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 2001; 10: 1359\u20131368.","journal-title":"Hum Mol Genet"},{"key":"BF6701591_CR127","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1093\/hmg\/10.13.1369","volume":"10","author":"C Toomes","year":"2001","unstructured":"Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 2001; 10: 1369\u20131378.","journal-title":"Hum Mol Genet"},{"key":"BF6701591_CR128","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1136\/jmg.39.8.e47","volume":"39","author":"NJ Marchbank","year":"2002","unstructured":"Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF et al. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet 2002; 39: e47.","journal-title":"J Med Genet"},{"key":"BF6701591_CR129","doi-asserted-by":"crossref","first-page":"7743","DOI":"10.1074\/jbc.C200677200","volume":"278","author":"A Olichon","year":"2003","unstructured":"Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003; 278: 7743\u20137746.","journal-title":"J Biol Chem"},{"key":"BF6701591_CR130","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1136\/bjo.87.2.149","volume":"87","author":"T Aung","year":"2003","unstructured":"Aung T, Okada K, Poinoosawmy D, Membrey L, Brice G, Child AH et al. The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Br J Ophthalmol 2003; 87: 49\u2013152.","journal-title":"Br J Ophthalmol"},{"key":"BF6701591_CR131","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1007\/BF00356174","volume":"6","author":"DS Rice","year":"1995","unstructured":"Rice DS, Williams RW, Ward-Bailey P, Johnson KR, Harris BS, Davisson MT et al. Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy. Mamm Genome 1995; 6: 546\u2013548.","journal-title":"Mamm Genome"},{"key":"BF6701591_CR132","first-page":"287","volume":"7","author":"PJ Waardenburg","year":"1957","unstructured":"Waardenburg PJ . Different types of hereditary optic atrophy. Acta Genet Statist Med 1957; 7: 287\u2013290.","journal-title":"Acta Genet Statist Med"},{"key":"BF6701591_CR133","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1136\/jmg.12.1.94","volume":"12","author":"LN Went","year":"1975","unstructured":"Went LN, De Vries-De Mol EC, Voklker-Dieben HJ . A family with apparently sex-linked optic atrophy. J Med Genet 1975; 12: 94\u201398.","journal-title":"J Med Genet"},{"key":"BF6701591_CR134","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1086\/514884","volume":"61","author":"JJM Assink","year":"1997","unstructured":"Assink JJM, Tijmes NT, ten Brink JB, Oostra R-J, Riemslag FC, deJong PTVM et al. A gene for X-linked optic atrophy is closely linked to the Xp11.4\u2013Xp11.2 region of the X chromosome. Am J Hum Genet 1997; 61: 934\u2013939.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR135","first-page":"128","volume":"117","author":"HD Pomeranz","year":"1999","unstructured":"Pomeranz HD, Lessell S . A hereditary chiasmal optic neuropathy. Arch Ophthalmol 1999; 117: 128\u2013131.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR136","first-page":"715","volume":"13","author":"DJ Wolfram","year":"1938","unstructured":"Wolfram DJ . Diabetes mellitus and simple optic atrophy among siblings. Mayo Clin Proc 1938; 13: 715\u2013717.","journal-title":"Mayo Clin Proc"},{"key":"BF6701591_CR137","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1001\/archneur.1977.00500240047008","volume":"34","author":"S Lessell","year":"1977","unstructured":"Lessell S, Rosman NP . Juvenile diabetes mellitus and optic atrophy. Arch Neurol 1977; 34: 759\u2013765.","journal-title":"Arch Neurol"},{"key":"BF6701591_CR138","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/BF01720362","volume":"60","author":"M Dreyer","year":"1982","unstructured":"Dreyer M, Rudiger HW, Bujara K, Herberhold C, Kuhnau J, Maack P et al. The syndrome of diabetes insipidus, diabetes mellitus optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases). Klin Wochenschr 1982; 60: 471\u2013475.","journal-title":"Klin Wochenschr"},{"key":"BF6701591_CR139","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/S0140-6736(95)92473-6","volume":"346","author":"TG Barrett","year":"1995","unstructured":"Barrett TG, Bundley SE, Macleod AF . Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995; 346: 1458\u20131463.","journal-title":"Lancet"},{"key":"BF6701591_CR140","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ana.410390312","volume":"9","author":"NJ Scolding","year":"1996","unstructured":"Scolding NJ, Kellar-Wood HF, Shaw C, Shneerson JM, Antoun N . Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol 1996; 9: 352\u2013360.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR141","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/eye.1997.226","volume":"11","author":"TG Barrett","year":"1997","unstructured":"Barrett TG, Bundey SE, Fielder AR, Good PA . Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 1997; 11: 882\u2013888.","journal-title":"Eye"},{"key":"BF6701591_CR142","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1136\/jmg.34.10.838","volume":"34","author":"TG Barrett","year":"1997","unstructured":"Barrett TG, Bundey SE . Wolfram (DIDMOAD) syndrome. J Med Genet 1997; 34: 838\u2013841.","journal-title":"J Med Genet"},{"key":"BF6701591_CR143","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1177\/112067210201200202","volume":"12","author":"M Al-Till","year":"2002","unstructured":"Al-Till M, Jarrah NS, Ajlouni KM . Ophthalmologic findings in fifteen patients with Wolfram syndrome. Eur J Ophthalmol 2002; 12: 84\u201388.","journal-title":"Eur J Ophthalmol"},{"key":"BF6701591_CR144","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1651-2227.2003.tb00469.x","volume":"92","author":"E Simsek","year":"2002","unstructured":"Simsek E, Simsek T, Tekgul S, Hosal S, Seyrantepe V, Aktan G . Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. Acta Paediatr 2002; 92: 55\u201361.","journal-title":"Acta Paediatr"},{"key":"BF6701591_CR145","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1034\/j.1600-0420.2000.078001118.x","volume":"78","author":"FJ Castro","year":"2000","unstructured":"Castro FJ, Barrio J, Perena MF, Palomar MT, Cristobal JA . Uncommon ophthalmologic findings associated with Wolfram syndrome. Acta Ophthalmol Scand 2000; 78: 118\u2013119.","journal-title":"Acta Ophthalmol Scand"},{"key":"BF6701591_CR146","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1176\/ajp.148.6.775","volume":"148","author":"RG Swift","year":"1991","unstructured":"Swift RG, Perkins DO, Chase CL, Sadler DB, Swift M . Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatry 1991; 148: 775\u2013779.","journal-title":"Am J Psychiatry"},{"key":"BF6701591_CR147","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1212\/WNL.42.6.1220","volume":"42","author":"TA Rando","year":"1992","unstructured":"Rando TA, Horton JC, Layzer RB . Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. Neurology 1992; 42: 1220\u20131224.","journal-title":"Neurology"},{"key":"BF6701591_CR148","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.2337\/diacare.18.12.1566","volume":"18","author":"BT Kinsley","year":"1995","unstructured":"Kinsley BT, Swift M, Dumont RH, Swift RG . Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995; 18: 1566\u20131570.","journal-title":"Diabetes Care"},{"key":"BF6701591_CR149","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0022-3476(89)80558-X","volume":"114","author":"C Borgna-Pignatti","year":"1989","unstructured":"Borgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C . Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 1989; 114: 405\u2013410.","journal-title":"J Pediatr"},{"key":"BF6701591_CR150","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/00019052-200302000-00005","volume":"16","author":"V Biousse","year":"2003","unstructured":"Biousse V, Newman NJ . Neuro-ophthalmology of mitochondrial disorders. Curr Opin Neurol 2003; 16: 35\u201343.","journal-title":"Curr Opin Neurol"},{"key":"BF6701591_CR151","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF02435965","volume":"15","author":"S Bundey","year":"1992","unstructured":"Bundey S, Pulton K, Whitwell H, Curtis E, Brown IAR, Fielder AR . Mitochondrial abnormalities in the DIDMOAD syndrome. J Inherited Metab Dis 1992; 15: 315\u2013319.","journal-title":"J Inherited Metab Dis"},{"key":"BF6701591_CR152","first-page":"963","volume":"58","author":"A Barrientos","year":"1996","unstructured":"Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A et al. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 1996; 58: 963\u2013970.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR153","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/ng0994-95","volume":"8","author":"MH Polymeropoulos","year":"1994","unstructured":"Polymeropoulos MH, Swift RG, Swift M . Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nature Genet 1994; 8: 95.","journal-title":"Nature Genet"},{"key":"BF6701591_CR154","first-page":"855","volume":"59","author":"DA Collier","year":"1996","unstructured":"Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA et al. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 1996; 59: 855\u2013863.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR155","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/S1525-1578(10)60457-6","volume":"5","author":"JM Van Den Ouweland","year":"2003","unstructured":"Van Den Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA et al. Molecular characterization of WFS1 in patients with Wolfram syndrome. J Mol Diagn 2003; 5: 88\u201395.","journal-title":"J Mol Diagn"},{"key":"BF6701591_CR156","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00439-002-0719-1","volume":"110","author":"K Cryns","year":"2002","unstructured":"Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G et al. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002; 110: 389\u2013394.","journal-title":"Hum Genet"},{"key":"BF6701591_CR157","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1172\/JCI118581","volume":"97","author":"A Barrientos","year":"1996","unstructured":"Barrientos A, Volpini V, Casademont J, Gen\u00eds D, Nanzanares J-M, Ferrer I et al. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996; 97: 1570\u20131576.","journal-title":"J Clin Invest"},{"key":"BF6701591_CR158","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1006\/geno.1996.4474","volume":"39","author":"S Hofmann","year":"1997","unstructured":"Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P et al. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitrochondrial DNA haplotypes. Genomics 1997; 39: 8\u201318.","journal-title":"Genomics"},{"key":"BF6701591_CR159","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ajmg.10345","volume":"115","author":"K Ajlouni","year":"2002","unstructured":"Ajlouni K, Jarrah N, El-Khateeb M, El-Zaheri M, El Shanti H, Lidral A . Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan. Am J Med Genet 2002; 115: 61\u201365.","journal-title":"Am J Med Genet"},{"key":"BF6701591_CR160","first-page":"138","volume":"47","author":"C Behr","year":"1909","unstructured":"Behr C . Die komplizierte, hereditar\u2013familare optikusatrophie des kindesalters: ein bisher nicht beschriebener symptomkomplex. Klin Montasbl Augenheilkd 1909; 47: 138\u2013160.","journal-title":"Klin Montasbl Augenheilkd"},{"key":"BF6701591_CR161","first-page":"147","volume":"15","author":"J Francois","year":"1966","unstructured":"Francois J . Mode d'heredite des heredo-degenerescences du nerf optique. J Genet Hum 1966; 15: 147\u2013220.","journal-title":"J Genet Hum"},{"key":"BF6701591_CR162","first-page":"183","volume":"24","author":"J Francois","year":"1976","unstructured":"Francois J . Les atrophies optiques hereditaires. J Genet Hum 1976; 24: 183\u2013200.","journal-title":"J Genet Hum"},{"key":"BF6701591_CR163","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1212\/WNL.39.4.595","volume":"39","author":"H Costeff","year":"1989","unstructured":"Costeff H, Gadoth N, Apter N, Prialnic M, Savir H . A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 1989; 39: 595\u2013597.","journal-title":"Neurology"},{"key":"BF6701591_CR164","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0002-9394(14)71864-1","volume":"114","author":"RN Sheffer","year":"1992","unstructured":"Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D . Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol 1992; 114: 494\u2013497.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR165","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ana.410330117","volume":"33","author":"H Costeff","year":"1993","unstructured":"Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N . 3-Methylglutaconic aciduria in \u2018optic atrophy plus. Ann Neurol 1993; 33: 103\u2013104.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR166","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1086\/324651","volume":"69","author":"Y Anikster","year":"2001","unstructured":"Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O . Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001; 69: 1218\u20131224.","journal-title":"Am J Hum Genet"},{"key":"BF6701591_CR167","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/00041327-200212000-00007","volume":"22","author":"DR Lynch","year":"2002","unstructured":"Lynch DR, Farmer J . Practical approaches to neurogenetic disease. J Neuro-ophthalmol 2002; 22: 297\u2013304.","journal-title":"J Neuro-ophthalmol"},{"key":"BF6701591_CR168","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1017\/S0317167100025464","volume":"3","author":"G Geoffroy","year":"1976","unstructured":"Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C et al. Clinical description roentgenologicevaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976; 3: 279\u2013286.","journal-title":"Can J Neurol Sci"},{"key":"BF6701591_CR169","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1093\/brain\/103.2.413","volume":"103","author":"WM Carroll","year":"1980","unstructured":"Carroll WM, Kriss A, Baraitser M, Barrett G, Halliday AM . The incidence and nature of visual pathway involvement in Friedreich's ataxia: a clinical and visual evoked potential study of 22 patients. Brain 1980; 103: 413\u2013434.","journal-title":"Brain"},{"key":"BF6701591_CR170","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1001\/archneur.1981.00510020033003","volume":"38","author":"IR Livingstone","year":"1981","unstructured":"Livingstone IR, Mastaglia FL, Edis R, Howe JW . Visual involvement in Friedreich's ataxia and hereditary spastic ataxia: a clinical and visual evoked response study. Arch Neurol 1981; 38: 75\u201379.","journal-title":"Arch Neurol"},{"key":"BF6701591_CR171","first-page":"131","volume":"32","author":"W Wenzel","year":"1982","unstructured":"Wenzel W, Camacho L, Claus D, Aschoff J . Visually evoked potentials in Friedreich's ataxia. Adv Neurol 1982; 32: 131\u2013139.","journal-title":"Adv Neurol"},{"key":"BF6701591_CR172","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/BF00179990","volume":"71","author":"W M\u00fcller\u2013Felber","year":"1993","unstructured":"M\u00fcller\u2013Felber W, Rossmanith T, Spes C, Chamberlain S, Pongratz D, Deufel T . The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9. Clin Invest 1993; 71: 109\u2013114.","journal-title":"Clin Invest"},{"key":"BF6701591_CR173","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/ana.410410518","volume":"41","author":"L Montermini","year":"1997","unstructured":"Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997; 41: 675\u2013682.","journal-title":"Ann Neurol"},{"key":"BF6701591_CR174","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1097\/00041327-200020040-00002","volume":"20","author":"SJ Givre","year":"2000","unstructured":"Givre SJ, Wall M, Kardon RH . Visual loss and recovery in a patient with Friedreich ataxia. J Neuro-ophthalmology 2000; 20: 229\u2013233.","journal-title":"J Neuro-ophthalmology"},{"key":"BF6701591_CR175","first-page":"39","volume":"3","author":"S Belal","year":"1995","unstructured":"Belal S, Hentati F, Ben Hamida C, Ben Hamida M . Friedreich's ataxia-vitamin E responsive type. The chromosome 8 locus. Clin Neurosci 1995; 3: 39\u201342.","journal-title":"Clin Neurosci"},{"key":"BF6701591_CR176","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/1531-8257(200007)15:4<604::AID-MDS1004>3.0.CO;2-K","volume":"15","author":"T Klockgether","year":"2000","unstructured":"Klockgether T, Wullner U, Spauschus A, Evert B . The molecular biology of the autosomal-dominant cerebellar ataxias. Mov Disord 2000; 15: 604\u2013612.","journal-title":"Mov Disord"},{"key":"BF6701591_CR177","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1001\/archopht.1997.01100150233013","volume":"115","author":"T Abe","year":"1997","unstructured":"Abe T, Abe K, Aoki M, Itoyama Y, Tamai M . Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. Arch Ophthalmol 1997; 115: 231\u2013236.","journal-title":"Arch Ophthalmol"},{"key":"BF6701591_CR178","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/brain\/105.1.1","volume":"105","author":"AE Harding","year":"1982","unstructured":"Harding AE . The clinical features and classification of late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of the \u2018Drew family of Walworth. Brain 1982; 105: 1\u201328.","journal-title":"Brain"},{"key":"BF6701591_CR179","first-page":"12","volume":"3","author":"A Durr","year":"1995","unstructured":"Durr A, Brice A, Lepage\u2013Lezin A, Cancel G, Smadja D, Vernant JC et al. Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clin Neurosci 1995; 3: 12\u201316.","journal-title":"Clin Neurosci"},{"key":"BF6701591_CR180","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1007\/s00415-002-0946-3","volume":"249","author":"G Kuhlenbaumer","year":"2002","unstructured":"Kuhlenbaumer G, Young P, Hunermund G, Ringelstein B, Stogbauer F . Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol 2002; 249: 1629\u20131650.","journal-title":"J Neurol"},{"key":"BF6701591_CR181","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jnnp.60.2.195","volume":"60","author":"RM Chalmers","year":"1996","unstructured":"Chalmers RM, Bird AC, Harding AE . Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. J Neurol Neurosurg Psychiatry 1996; 60: 195\u2013196.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR182","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jnnp.62.4.385","volume":"62","author":"RM Chalmers","year":"1997","unstructured":"Chalmers RM, Riordan-Eva P, Wood NW . Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy. J Neurol Neurosurg Psychiatry 1997; 62: 385\u2013387.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF6701591_CR183","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/S0387-7604(12)80113-6","volume":"13","author":"N Gadoth","year":"1991","unstructured":"Gadoth N, Gordon CR, Bleich N, Pratt H . Three modality evoked potentials in Charcot\u2013Marie\u2013Tooth Disease (HMSN\u20131). Brain Dev 1991; 13: 91\u201394.","journal-title":"Brain Dev"},{"key":"BF6701591_CR184","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/0002-9394(86)90074-7","volume":"102","author":"(III Rizzo JF","year":"1986","unstructured":"Rizzo JF (III, Lessell S, Liebman SD . Optic atrophy in familial dysautonomia. Am J Ophthalmol 1986; 102: 463\u2013467.","journal-title":"Am J Ophthalmol"},{"key":"BF6701591_CR185","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1097\/00041327-199706000-00006","volume":"17","author":"M Groom","year":"1997","unstructured":"Groom M, Kay MD, Corrent GF . Optic neuropathy in familial dysautonomia. J Neuro-ophthalmology 1997; 17: 101\u2013102.","journal-title":"J Neuro-ophthalmology"},{"key":"BF6701591_CR186","first-page":"9","volume":"286","author":"J Makhoul","year":"2002","unstructured":"Makhoul J, Cordonnier M, Van Nechel C . Optic neuropathy in Strumpell\u2013Lorrain disease: presentation of a clinical case and literature review. Bull Soc Belge Ophthalmol 2002; 286: 9\u201314.","journal-title":"Bull Soc Belge Ophthalmol"},{"key":"BF6701591_CR187","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0197-0186(01)00129-2","volume":"40","author":"V Carelli","year":"2002","unstructured":"Carelli V, Ross-Cisneros FN, Sadun AA . Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002; 40: 573\u2013584.","journal-title":"Neurochem Int"},{"key":"BF6701591_CR188","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1378","volume":"106","author":"EA Shoubridge","year":"2001","unstructured":"Shoubridge EA . Cytochrome c oxidase deficiency. Am J Med Genet 2001; 106: 46\u201352.","journal-title":"Am J Med Genet"},{"key":"BF6701591_CR189","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1055\/s-2001-17945","volume":"21","author":"V Biousse","year":"2001","unstructured":"Biousse V, Newman NJ . Neuro-ophthalmology of mitochondrial diseases. Semin Neurol. 2001; 21: 275\u2013291.","journal-title":"Semin Neurol."},{"key":"BF6701591_CR190","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1016\/S0161-6420(01)00618-2","volume":"108","author":"V Carelli","year":"2001","unstructured":"Carelli V, Sadun AA . Optic neuropathy in LHON and Leigh Syndrome. Ophthalmology 2001; 108: 1172\u20131173.","journal-title":"Ophthalmology"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/6701591.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/6701591","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/6701591.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T22:22:28Z","timestamp":1705270948000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/6701591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":190,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["BF6701591"],"URL":"https:\/\/doi.org\/10.1038\/sj.eye.6701591","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11]]}}}