메뉴 건너뛰기




Volumn 108, Issue 12, 2011, Pages 1179-1194

Leber's hereditary optic neuropathy;Lebersche Optikusneuropathie

Author keywords

Idebenone; Leber's hereditary optic neuropathy; Mitochondrial genome; mtDNA; Optic nerve

Indexed keywords

ARTICLE; GENETIC PREDISPOSITION; GENETICS; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; VISUAL DISORDER;

EID: 82455206248     PISSN: 0941293X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00347-011-2482-y     Document Type: Article
Times cited : (4)

References (70)
  • 1
    • 18544384889 scopus 로고    scopus 로고
    • Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids
    • Baracca A, Solaini G, Sgarbi G et al (2005) Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids. Arch Neurol 62:730-736
    • (2005) Arch Neurol , vol.62 , pp. 730-736
    • Baracca, A.1    Solaini, G.2    Sgarbi, G.3
  • 2
    • 77049083822 scopus 로고    scopus 로고
    • Natural history of Leber's hereditary optic neuropathy: Longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography
    • Barboni P, Carbonelli M, Savini G et al (2010) Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography. Ophthalmology 177:623-627
    • (2010) Ophthalmology , vol.177 , pp. 623-627
    • Barboni, P.1    Carbonelli, M.2    Savini, G.3
  • 3
    • 34248208587 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy with childhood onset
    • Barboni P, Savini G, Valentino ML et al (2006) Leber's hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci 47:5303-5309
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 5303-5309
    • Barboni, P.1    Savini, G.2    Valentino, M.L.3
  • 4
    • 38449084377 scopus 로고    scopus 로고
    • Response to idebenone and multivitamin therapy in Leber's hereditary optic neuropathy
    • Barnils GN, Mesa E, Munoz S et al (2007) Response to idebenone and multivitamin therapy in Leber's hereditary optic neuropathy. Arch Soc Esp Oftalmol 82:377-380
    • (2007) Arch Soc Esp Oftalmol , vol.82 , pp. 377-380
    • Barnils, G.N.1    Mesa, E.2    Munoz, S.3
  • 5
    • 18844406450 scopus 로고    scopus 로고
    • LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation
    • Blakely EL, Silva R de, King A et al (2005) LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur J Hum Genet 13:623-627
    • (2005) Eur J Hum Genet , vol.13 , pp. 623-627
    • Blakely, E.L.1    de Silva, R.2    King, A.3
  • 6
    • 0032868149 scopus 로고    scopus 로고
    • Comparing pupil function and visual function in patients with Leber's hereditary optic neuropathy
    • Bremner FD, Shallo-Hoffmann J, Riordan-Eva P et al (1999) Comparing pupil function and visual function in patients with Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 40:2528-2534
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2528-2534
    • Bremner, F.D.1    Shallo-Hoffmann, J.2    Riordan-Eva, P.3
  • 7
    • 33846018053 scopus 로고    scopus 로고
    • Grand rounds: Could occupational exposure to n-hexane and other solvents precipitate visual failure in Leber hereditary optic neuropathy?
    • Carelli V, Franceschini F, Venturi S et al (2007) Grand rounds: Could occupational exposure to n-hexane and other solvents precipitate visual failure in Leber hereditary optic neuropathy? Environ Health Perspect 115:113-115
    • (2007) Environ Health Perspect , vol.115 , pp. 113-115
    • Carelli, V.1    Franceschini, F.2    Venturi, S.3
  • 8
    • 0842281697 scopus 로고    scopus 로고
    • Mitochondrial dysfunction as a cause of optic neuropathies
    • Carelli V, La Morgia C, Iommarini et al (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 23:53-89
    • (2004) Prog Retin Eye Res , vol.23 , pp. 53-89
    • Carelli, V.1    la Morgia, C.2    Iommarini3
  • 9
    • 80052958201 scopus 로고    scopus 로고
    • Idebenone treatment in Leber's hereditary optic neuropathy. Letter to the editor
    • Carelli V, La Morgia C, Valentino ML et al (2011) Idebenone treatment in Leber's hereditary optic neuropathy. Letter to the editor. Brain 134:e188
    • (2011) Brain , vol.134
    • Carelli, V.1    la Morgia, C.2    Valentino, M.L.3
  • 10
    • 0035182136 scopus 로고    scopus 로고
    • The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
    • Chinnery PF, Brown DT, Andrews RM et al (2001) The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 124:209-218
    • (2001) Brain , vol.124 , pp. 209-218
    • Chinnery, P.F.1    Brown, D.T.2    Andrews, R.M.3
  • 11
    • 20044381305 scopus 로고    scopus 로고
    • Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy
    • Floreani M, Napoli E, Martinuzzi A et al (2005) Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. FEBS J 272:1124-1135
    • (2005) FEBS J , vol.272 , pp. 1124-1135
    • Floreani, M.1    Napoli, E.2    Martinuzzi, A.3
  • 12
    • 77953622439 scopus 로고    scopus 로고
    • The neuro-ophthalmology of mitochondrial disease
    • Fraser JA, Biousse V, Newman NJ (2010) The neuro-ophthalmology of mitochondrial disease. Surv Oph-thalmol 55:299-334
    • (2010) Surv Oph-thalmol , vol.55 , pp. 299-334
    • Fraser, J.A.1    Biousse, V.2    Newman, N.J.3
  • 13
    • 79956288219 scopus 로고    scopus 로고
    • Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation
    • Fruhman G, Landsverk ML, Lotze TE et al (2011) Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab 103:153-160
    • (2011) Mol Genet Metab , vol.103 , pp. 153-160
    • Fruhman, G.1    Landsverk, M.L.2    Lotze, T.E.3
  • 14
    • 0036714966 scopus 로고    scopus 로고
    • Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
    • Funalot B, Reynier P, Vighetto A et al (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 52:374-377
    • (2002) Ann Neurol , vol.52 , pp. 374-377
    • Funalot, B.1    Reynier, P.2    Vighetto, A.3
  • 15
    • 79956341950 scopus 로고    scopus 로고
    • Never too old to harbour a young man's disease?
    • Giraudet S, Lamirel C, Amati-Bonneau P et al (2011) Never too old to harbour a young man's disease? Br J Ophthalmol 95:887, 896-897
    • (2011) Br J Ophthalmol , vol.95 , Issue.887 , pp. 896-897
    • Giraudet, S.1    Lamirel, C.2    Amati-Bonneau, P.3
  • 16
    • 0029064615 scopus 로고
    • Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
    • Harding AE, Sweeney MG, Govan GG et al (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57:77-86
    • (1995) Am J Hum Genet , vol.57 , pp. 77-86
    • Harding, A.E.1    Sweeney, M.G.2    Govan, G.G.3
  • 17
    • 0026782507 scopus 로고
    • Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Harding AE, Sweeney MG, Miller DH et al (1992) Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115:979-989
    • (1992) Brain , vol.115 , pp. 979-989
    • Harding, A.E.1    Sweeney, M.G.2    Miller, D.H.3
  • 18
    • 33744962342 scopus 로고    scopus 로고
    • Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: A case report
    • Honda H, Tsujhata M, Ochi M et al (2006) Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: a case report. Rinsho Shinkeigaku 46:294-296
    • (2006) Rinsho Shinkeigaku , vol.46 , pp. 294-296
    • Honda, H.1    Tsujhata, M.2    Ochi, M.3
  • 19
    • 0036897159 scopus 로고    scopus 로고
    • Lightning strikes twice: Leber hereditary optic neuropathy with two pathogenic mtDNA mutations
    • Howell N, Miller NR, Mackey DA et al (2002) Lightning strikes twice: Leber hereditary optic neuropathy with two pathogenic mtDNA mutations. J Neuroophthalmol 22:262-269
    • (2002) J Neuroophthalmol , vol.22 , pp. 262-269
    • Howell, N.1    Miller, N.R.2    Mackey, D.A.3
  • 20
    • 34547796899 scopus 로고    scopus 로고
    • Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    • Hudson G, Carelli V, Spruijt L et al (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81:228-233
    • (2007) Am J Hum Genet , vol.81 , pp. 228-233
    • Hudson, G.1    Carelli, V.2    Spruijt, L.3
  • 21
    • 28144454984 scopus 로고    scopus 로고
    • Identification of an X-chromosomal locus and haplotypes modulating the phenotype of a mitochondrial DNA disorder
    • Hudson G, Keers S, Man PYW (2005) Identification of an X-chromosomal locus and haplotypes modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 77:1086-1091
    • (2005) Am J Hum Genet , vol.77 , pp. 1086-1091
    • Hudson, G.1    Keers, S.2    Man, P.Y.W.3
  • 22
    • 0035404936 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Clinical and molecular genetic findings
    • Huoponen K (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 3:119-125
    • (2001) Neurogenetics , vol.3 , pp. 119-125
    • Huoponen, K.1
  • 23
    • 0030342197 scopus 로고    scopus 로고
    • Carbon monoxide poisoning as an epigenetic factor for Leber's herediary optic neuropathy
    • Hwang JM, Park HW (1996) Carbon monoxide poisoning as an epigenetic factor for Leber's herediary optic neuropathy. Korean J Ophthalmol 10:122-123
    • (1996) Korean J Ophthalmol , vol.10 , pp. 122-123
    • Hwang, J.M.1    Park, H.W.2
  • 24
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy: Clinical manifestations of the 14484 mutation
    • Johns DR, Heher KL, Miller NR et al (1993) Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation. Arch Ophthalmol 111:495-498
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3
  • 25
    • 77953205369 scopus 로고    scopus 로고
    • Selective wavelength pupillometry in Leber hereditary optic neuropathy
    • Kawasaki A, Herbst K, Sander B et al (2010). Selective wavelength pupillometry in Leber hereditary optic neuropathy. Clin Experiment Oph-thalmol 38:322-324
    • (2010) Clin Experiment Oph-thalmol , vol.38 , pp. 322-324
    • Kawasaki, A.1    Herbst, K.2    Sander, B.3
  • 26
    • 67649989579 scopus 로고    scopus 로고
    • Quality of life in patients with Leber hereditary optic neuropathy
    • Kirkman MA, Korsten A, Leonhardt M et al (2009) Quality of life in patients with Leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci 50:3112-3115
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 3112-3115
    • Kirkman, M.A.1    Korsten, A.2    Leonhardt, M.3
  • 27
    • 70949090567 scopus 로고    scopus 로고
    • Gene-enviroment interactions in Leber hereditary optic neuropathy
    • Kirkman MA, Yu-Wai-Man P, Korsten A et al (2009) Gene-enviroment interactions in Leber hereditary optic neuropathy. Brain 132:2317-2326
    • (2009) Brain , vol.132 , pp. 2317-2326
    • Kirkman, M.A.1    Yu-Wai-Man, P.2    Korsten, A.3
  • 28
    • 80052959702 scopus 로고    scopus 로고
    • A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
    • Klopstock T, Yu-Wai-Man P, Dimitriadis K et al (2011) A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 134:2677-2686
    • (2011) Brain , vol.134 , pp. 2677-2686
    • Klopstock, T.1    Yu-Wai-Man, P.2    Dimitriadis, K.3
  • 29
    • 80052920183 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy-gene therapy: From benchtop to bedside
    • Koilkonda RD, Guy J (2011) Leber's hereditary optic neuropathy-gene therapy: from benchtop to bedside. J Ophthalmol 179412
    • (2011) J Ophthalmol , pp. 179412
    • Koilkonda, R.D.1    Guy, J.2
  • 30
    • 34247092379 scopus 로고    scopus 로고
    • White matter changes in Leber's hereditary optic neuropathy: MRI findings
    • Küker W, Weir A, Quaghebeur G et al (2007) White matter changes in Leber's hereditary optic neuropathy: MRI findings. Eur J Neurol 14:591-593
    • (2007) Eur J Neurol , vol.14 , pp. 591-593
    • Küker, W.1    Weir, A.2    Quaghebeur, G.3
  • 31
    • 7244253011 scopus 로고    scopus 로고
    • Inner retinal contributions to the multifocal electroretinogramm: Patients with Leber's hereditary optic neuropathy (LHON). Multifocal electroretinogramm in LHON
    • Kurtenbach A, Leo-Kottler B, Zrenner E (2004) Inner retinal contributions to the multifocal electroretinogramm: patients with Leber's hereditary optic neuropathy (LHON). Multifocal electroretinogramm in LHON. Doc Ophthalmol 108:231-240
    • (2004) Doc Ophthalmol , vol.108 , pp. 231-240
    • Kurtenbach, A.1    Leo-Kottler, B.2    Zrenner, E.3
  • 32
    • 77957039148 scopus 로고    scopus 로고
    • Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies
    • La Morgia C, Ross-Cisneros FN, Sadun AA et al (2010) Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. Brain 133:2426-2438
    • (2010) Brain , vol.133 , pp. 2426-2438
    • la Morgia, C.1    Ross-Cisneros, F.N.2    Sadun, A.A.3
  • 33
    • 34447600937 scopus 로고
    • Ueber hereditäre und congenital-angelegte Sehnervenleiden
    • Leber T (1871) Ueber hereditäre und congenital-angelegte Sehnervenleiden. Graefes Arch Ophthalmol 17:249-291
    • (1871) Graefes Arch Ophthalmol , vol.17 , pp. 249-291
    • Leber, T.1
  • 34
    • 0030183793 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: Clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene
    • Leo-Kottler B, Christ-Adler M, Baumann B et al (1996) Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene. Ger J Ophthalmol 5:233-240
    • (1996) Ger J Ophthalmol , vol.5 , pp. 233-240
    • Leo-Kottler, B.1    Christ-Adler, M.2    Baumann, B.3
  • 35
    • 0034480542 scopus 로고    scopus 로고
    • Lebersche Optikusneuropathie mit klinischer Besserung
    • Leo-Kottler B, Jacobi F, Christ-Adler M (2000) Lebersche Optikusneuropathie mit klinischer Besserung. Ophthalmologe 97:849-854
    • (2000) Ophthalmologe , vol.97 , pp. 849-854
    • Leo-Kottler, B.1    Jacobi, F.2    Christ-Adler, M.3
  • 36
    • 37349036990 scopus 로고    scopus 로고
    • Autosomal-dominant erbliche Optikusatrophie vs. Lebersche Optikusneuropathie. Wie kann man sie unterscheiden?
    • Leo-Kottler B, Jägle H, Küpker T et al (2007) Autosomal-dominant erbliche Optikusatrophie vs. Lebersche Optikusneuropathie. Wie kann man sie unterscheiden? Ophthalmologe 104:1060-1065
    • (2007) Ophthalmologe , vol.104 , pp. 1060-1065
    • Leo-Kottler, B.1    Jägle, H.2    Küpker, T.3
  • 37
    • 0038394378 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus
    • Mackey DA, Fingert JH, Luzhansky JZ et al (2003) Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye 17:312-317
    • (2003) Eye , vol.17 , pp. 312-317
    • Mackey, D.A.1    Fingert, J.H.2    Luzhansky, J.Z.3
  • 38
    • 0029816017 scopus 로고    scopus 로고
    • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
    • Mackey DA, Oostra RJ, Rosenberg T et al (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59:481-485
    • (1996) Am J Hum Genet , vol.59 , pp. 481-485
    • Mackey, D.A.1    Oostra, R.J.2    Rosenberg, T.3
  • 39
    • 0037322524 scopus 로고    scopus 로고
    • The epidemiology of Leber hereditary optic neuropathy in the North East of England
    • Man PY, Griffiths PG, Brown DT et al (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 72:333-339
    • (2003) Am J Hum Genet , vol.72 , pp. 333-339
    • Man, P.Y.1    Griffiths, P.G.2    Brown, D.T.3
  • 40
    • 84975452084 scopus 로고    scopus 로고
    • Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
    • Mashima Y, Kigasawa K, Wakakura M et al (2000) Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuroophthalmol 20:166-170
    • (2000) J Neuroophthalmol , vol.20 , pp. 166-170
    • Mashima, Y.1    Kigasawa, K.2    Wakakura, M.3
  • 41
    • 0037315866 scopus 로고    scopus 로고
    • Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: Comparison with normal tension glaucoma
    • Mashima Y, Kimura I, Yamamoto Y et al (2003) Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: comparison with normal tension glaucoma. Graefes Arch Clin Exp Ophthalmol 241:75-80
    • (2003) Graefes Arch Clin Exp Ophthalmol , vol.241 , pp. 75-80
    • Mashima, Y.1    Kimura, I.2    Yamamoto, Y.3
  • 42
    • 0031965731 scopus 로고    scopus 로고
    • Spectrum of pathogenic DNA mitochondrial mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y, Yamada K, Wakakura M et al (1998) Spectrum of pathogenic DNA mitochondrial mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 17:403-408
    • (1998) Curr Eye Res , vol.17 , pp. 403-408
    • Mashima, Y.1    Yamada, K.2    Wakakura, M.3
  • 43
    • 0027180961 scopus 로고
    • Leber's hereditary optic neuropathy
    • Newman NJ (1993) Leber's hereditary optic neuropathy. Arch Neurol 50:540-548
    • (1993) Arch Neurol , vol.50 , pp. 540-548
    • Newman, N.J.1
  • 44
    • 80052935308 scopus 로고    scopus 로고
    • Treatment of Leber hereditary optic neuropathy
    • Newman NJ (2011) Treatment of Leber hereditary optic neuropathy. Brain 134:2447-2455
    • (2011) Brain , vol.134 , pp. 2447-2455
    • Newman, N.J.1
  • 45
    • 33745864221 scopus 로고    scopus 로고
    • Hereditary optic neuropathies
    • In: Miller NR, Newman NJ, Biousse V, Kerrison JB, 6. Aufl. Williams & Wilkins, Baltimore
    • Newman NJ (2005) Hereditary optic neuropathies. In: Miller NR, Newman NJ, Biousse V, Kerrison JB (Hrsg) Walsh and Hoyt's clinical neuro-ophthalmology, 6. Aufl. Williams & Wilkins, Baltimore, S 465-501
    • (2005) Walsh and Hoyt's Clinical Neuro-ophthalmology , pp. 465-501
    • Newman, N.J.1
  • 46
    • 0037316496 scopus 로고    scopus 로고
    • Recurrent vision loss in Leber hereditary optic neuropathy
    • Newman-Toker DE, Horton JC, Lessell S (2003) Recurrent vision loss in Leber hereditary optic neuropathy. Arch Ophthalmol 232:288-291
    • (2003) Arch Ophthalmol , vol.232 , pp. 288-291
    • Newman-Toker, D.E.1    Horton, J.C.2    Lessell, S.3
  • 47
    • 0029883737 scopus 로고    scopus 로고
    • Ophthalmologic findings in Leber hereditary optic neuropathy with special reference to mtDNA mutations
    • Nikoskelainen EK, Huoponen K, Juvonen V et al (1996) Ophthalmologic findings in Leber hereditary optic neuropathy with special reference to mtDNA mutations. Ophthalmology 103:504-514
    • (1996) Ophthalmology , vol.103 , pp. 504-514
    • Nikoskelainen, E.K.1    Huoponen, K.2    Juvonen, V.3
  • 48
    • 0029166941 scopus 로고
    • Leber's "plus": Neurological abnormalities in patients with Leber's hereditary optic neuropathy
    • Nikoskelainen EK, Marttila RJ, Huoponen K et al (1995) Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59:160-164
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 160-164
    • Nikoskelainen, E.K.1    Marttila, R.J.2    Huoponen, K.3
  • 50
    • 41449096788 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome
    • Parry-Jones AR, Mitchell JD, Gunarwardena WJ et al (2008) Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome. Pract Neurol 8:118-121
    • (2008) Pract Neurol , vol.8 , pp. 118-121
    • Parry-Jones, A.R.1    Mitchell, J.D.2    Gunarwardena, W.J.3
  • 51
    • 0037388466 scopus 로고    scopus 로고
    • Chiasmal enlargement and optic nerve enhancement on magnetic resonance imaging in Leber hereditary optic neuropathy
    • Phillips PH, Vaphiades M, Glasier CM et al (2003) Chiasmal enlargement and optic nerve enhancement on magnetic resonance imaging in Leber hereditary optic neuropathy. Arch Ophthalmol 121:577-579
    • (2003) Arch Ophthalmol , vol.121 , pp. 577-579
    • Phillips, P.H.1    Vaphiades, M.2    Glasier, C.M.3
  • 52
    • 33749064465 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy and vitamin B 12 deficiency
    • Pott JWR, Wong KH (2006) Leber's hereditary optic neuropathy and vitamin B 12 deficiency. Graefes Arch Clin Exp Ophthalmol 244:1357-1359
    • (2006) Graefes Arch Clin Exp Ophthalmol , vol.244 , pp. 1357-1359
    • Pott, J.W.R.1    Wong, K.H.2
  • 53
    • 34848868793 scopus 로고    scopus 로고
    • Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
    • Puomila A, Hämäläinen P, Kivioja S et al (2007) Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet 15:1079-1089
    • (2007) Eur J Hum Genet , vol.15 , pp. 1079-1089
    • Puomila, A.1    Hämäläinen, P.2    Kivioja, S.3
  • 54
    • 64049086605 scopus 로고    scopus 로고
    • Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy
    • Ramos Cdo V, Bellusci C, Savini G et al (2009) Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 50:1666-1674
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 1666-1674
    • Ramos Cdo, V.1    Bellusci, C.2    Savini, G.3
  • 55
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riodan-Eva P, Sanders MD, Govan GG et al (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337
    • (1995) Brain , vol.118 , pp. 319-337
    • Riodan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3
  • 56
    • 0042850443 scopus 로고    scopus 로고
    • Extensive investigation of a large Brazilian pedigree of 11778/ haplogroup J Leber Hereditary Optic Neuropathy
    • Sadun AA, Carelli V, Salomao SR et al (2003) Extensive investigation of a large Brazilian pedigree of 11778/ haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 136:231-238
    • (2003) Am J Ophthalmol , vol.136 , pp. 231-238
    • Sadun, A.A.1    Carelli, V.2    Salomao, S.R.3
  • 57
    • 33846062057 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy possibly triggered by exposure to tire fire
    • Sanchez RN, Smith AJ, Carelli V et al (2006) Leber hereditary optic neuropathy possibly triggered by exposure to tire fire. J Neuroophthalmol 26:268-272
    • (2006) J Neuroophthalmol , vol.26 , pp. 268-272
    • Sanchez, R.N.1    Smith, A.J.2    Carelli, V.3
  • 58
    • 41149109085 scopus 로고    scopus 로고
    • Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy
    • Shankar SP, Fingert JH, Carelli V et al (2008) Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy. Ophthalmic Genet 29:17-24
    • (2008) Ophthalmic Genet , vol.29 , pp. 17-24
    • Shankar, S.P.1    Fingert, J.H.2    Carelli, V.3
  • 59
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • Smith JL, Hoyt WF, Susac JO (1973) Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 90:349-354
    • (1973) Arch Ophthalmol , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 60
    • 0027485979 scopus 로고
    • Heteroplasmy in Leber's hereditary optic neuropathy
    • Smith KH, Johns DR, Heher KL et al (1993) Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol 111:1486-1490
    • (1993) Arch Ophthalmol , vol.111 , pp. 1486-1490
    • Smith, K.H.1    Johns, D.R.2    Heher, K.L.3
  • 61
    • 0038545847 scopus 로고    scopus 로고
    • Cardiac abnormalities in patients with Leber's hereditary optic neuropathy
    • Sorajja P, Sweeney MG, Chalmers R et al (2003) Cardiac abnormalities in patients with Leber's hereditary optic neuropathy. Heart 89:791-792
    • (2003) Heart , vol.89 , pp. 791-792
    • Sorajja, P.1    Sweeney, M.G.2    Chalmers, R.3
  • 62
    • 34250315738 scopus 로고    scopus 로고
    • A MELAS-associated ND1 mutation causing Leber hereditary optic neuropathy and spastic dystonia
    • Spruijt L, Kolbach DN, Coo RF de et al (2007) A MELAS-associated ND1 mutation causing Leber hereditary optic neuropathy and spastic dystonia. Arch Neurol 64:890-893
    • (2007) Arch Neurol , vol.64 , pp. 890-893
    • Spruijt, L.1    Kolbach, D.N.2    de Coo, R.F.3
  • 63
    • 9144233107 scopus 로고    scopus 로고
    • The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy
    • Valentino ML, Barboni P, Ghelli A et al (2004) The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol 56:631-641
    • (2004) Ann Neurol , vol.56 , pp. 631-641
    • Valentino, M.L.1    Barboni, P.2    Ghelli, A.3
  • 64
    • 0037334767 scopus 로고    scopus 로고
    • Optic nerve and chiasmal enhancement in Leber hereditary optic nerve neuropathy
    • Vaphiades MS, Phillips PH, Turbin RE (2003) Optic nerve and chiasmal enhancement in Leber hereditary optic nerve neuropathy. J Neuroophthalmol 23:104-105
    • (2003) J Neuroophthalmol , vol.23 , pp. 104-105
    • Vaphiades, M.S.1    Phillips, P.H.2    Turbin, R.E.3
  • 65
    • 0029062843 scopus 로고
    • Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy
    • Wakakura M, Yokoe J (1995) Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy. Br J Ophthalmol 79:442-446
    • (1995) Br J Ophthalmol , vol.79 , pp. 442-446
    • Wakakura, M.1    Yokoe, J.2
  • 66
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT et al (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 67
    • 0036187340 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy - the spectrum of mitochondrial DNA mutations in Chinese patients
    • Yen MY, Wang AG, Chang WL et al (2002) Leber's hereditary optic neuropathy - the spectrum of mitochondrial DNA mutations in Chinese patients. Jpn J Ophthalmol 46:45-51
    • (2002) Jpn J Ophthalmol , vol.46 , pp. 45-51
    • Yen, M.Y.1    Wang, A.G.2    Chang, W.L.3
  • 68
    • 33745870877 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: A multifactorial disease
    • Yen MY, Wang AG, Wei YH (2006) Leber's hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res 25:381-396
    • (2006) Prog Retin Eye Res , vol.25 , pp. 381-396
    • Yen, M.Y.1    Wang, A.G.2    Wei, Y.H.3
  • 69
    • 79551638162 scopus 로고    scopus 로고
    • Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies
    • Yu-Wai-Man P, Griffiths PG, Chinnery PF (2011) Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res 30:81-114
    • (2011) Prog Retin Eye Res , vol.30 , pp. 81-114
    • Yu-Wai-Man, P.1    Griffiths, P.G.2    Chinnery, P.F.3
  • 70
    • 24644461049 scopus 로고    scopus 로고
    • Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G
    • Zanna C, Ghelli A, Porcelli AM et al (2005) Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. Apoptosis 10:997-1007
    • (2005) Apoptosis , vol.10 , pp. 997-1007
    • Zanna, C.1    Ghelli, A.2    Porcelli, A.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.