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Volumn 26, Issue C, 2002, Pages 115-142

Chapter 4 Leber's Hereditary Optic Neuropathy

(1)  Carelli, Valerio a  

a NONE

Author keywords

[No Author keywords available]

Indexed keywords


EID: 77957170634     PISSN: 18773419     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1877-3419(09)70063-7     Document Type: Article
Times cited : (40)

References (186)
  • 1
    • 0000753933 scopus 로고
    • Ein ungewohnlicher Fall von hereditarer Amaurose
    • Von Graefe A. Ein ungewohnlicher Fall von hereditarer Amaurose. Archiv fur Ophthalmologie 4 (1858) 266-268
    • (1858) Archiv fur Ophthalmologie , vol.4 , pp. 266-268
    • Von Graefe, A.1
  • 2
    • 34447600937 scopus 로고
    • Ueber hereditare und congenital-angelegte Sehnervenleiden
    • Leber T. Ueber hereditare und congenital-angelegte Sehnervenleiden. Archiv fur Ophthalmologie 17 (1871) 249-291
    • (1871) Archiv fur Ophthalmologie , vol.17 , pp. 249-291
    • Leber, T.1
  • 3
    • 0002387271 scopus 로고
    • Leber's disease. A genealogic, genetic and clinical study of 101 cases of retrobulbar optic neuritis in 20 Danish families
    • Lundsgaard R. Leber's disease. A genealogic, genetic and clinical study of 101 cases of retrobulbar optic neuritis in 20 Danish families. Acta Ophthalmol 21 3 (1944) 3-306
    • (1944) Acta Ophthalmol , vol.21 , Issue.3 , pp. 3-306
    • Lundsgaard, R.1
  • 4
    • 0008646419 scopus 로고
    • Leber's disease in the Netherlands
    • van Senus A. Leber's disease in the Netherlands. Doc Ophthalmol 17 (1963) 1-162
    • (1963) Doc Ophthalmol , vol.17 , pp. 1-162
    • van Senus, A.1
  • 6
    • 0344367753 scopus 로고
    • A probable case of cytoplasmatic inheritance in man: a critique of Leber's disease
    • Imai Y., and Moriwaki D. A probable case of cytoplasmatic inheritance in man: a critique of Leber's disease. J Genet 33 (1936) 163-167
    • (1936) J Genet , vol.33 , pp. 163-167
    • Imai, Y.1    Moriwaki, D.2
  • 7
    • 0015333611 scopus 로고
    • Leber's optic atrophy: a possible example of mitochondrial inheritance
    • Erickson P. Leber's optic atrophy: a possible example of mitochondrial inheritance. Am J Hum Genet 24 (1972) 348-349
    • (1972) Am J Hum Genet , vol.24 , pp. 348-349
    • Erickson, P.1
  • 9
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace D.C., Singh G., Lott M.T., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242 (1988) 1427-1430
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 10
    • 0025910614 scopus 로고
    • A new mtDNA mutation associated with Leber hereditary optic neuropathy
    • Huoponen K., Vilkki J., Aula P., et al. A new mtDNA mutation associated with Leber hereditary optic neuropathy. Am J Hum Genet 48 (1991) 1147-1153
    • (1991) Am J Hum Genet , vol.48 , pp. 1147-1153
    • Huoponen, K.1    Vilkki, J.2    Aula, P.3
  • 11
    • 0025944560 scopus 로고
    • Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
    • Howell N., Bindoff L.A., McCullough D.A., et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49 (1991) 939-950
    • (1991) Am J Hum Genet , vol.49 , pp. 939-950
    • Howell, N.1    Bindoff, L.A.2    McCullough, D.A.3
  • 12
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • Mackey D., and Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 51 (1992) 1218-1228
    • (1992) Am J Hum Genet , vol.51 , pp. 1218-1228
    • Mackey, D.1    Howell, N.2
  • 13
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns D.R., Neufeld M.J., and Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Comm 187 (1992) 1551-1557
    • (1992) Biochem Biophys Res Comm , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 14
    • 0027977998 scopus 로고
    • Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
    • Mackey D.A. Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye 8 (1994) 431-436
    • (1994) Eye , vol.8 , pp. 431-436
    • Mackey, D.A.1
  • 15
    • 0028221662 scopus 로고
    • Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome
    • Oostra R.J., Bolhuis P.A., Wijburg F.A., et al. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 31 (1994) 280-286
    • (1994) J Med Genet , vol.31 , pp. 280-286
    • Oostra, R.J.1    Bolhuis, P.A.2    Wijburg, F.A.3
  • 16
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P., Sanders M.D., Govan G.G., et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118 (1995) 319-337
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3
  • 17
    • 0029883737 scopus 로고    scopus 로고
    • Ophthalmological findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
    • Nikoskelainen E.K., Huoponen K., Juvonen V., et al. Ophthalmological findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103 (1996) 504-514
    • (1996) Ophthalmology , vol.103 , pp. 504-514
    • Nikoskelainen, E.K.1    Huoponen, K.2    Juvonen, V.3
  • 18
    • 0033380933 scopus 로고    scopus 로고
    • Multicenter study on the frequency of three primary mutation of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts
    • Yamada K., Oguchi Y., Hotta Y., et al. Multicenter study on the frequency of three primary mutation of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts. Neuroophthalmology 22 (1999) 187-193
    • (1999) Neuroophthalmology , vol.22 , pp. 187-193
    • Yamada, K.1    Oguchi, Y.2    Hotta, Y.3
  • 19
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia
    • Jun A.S., Brown M.D., and Wallace D.C. A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A 91 (1994) 6206-6210
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 20
    • 0029091199 scopus 로고
    • Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
    • Shoffner J.M., Brown M.D., Stugard C., et al. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 38 (1995) 163-169
    • (1995) Ann Neurol , vol.38 , pp. 163-169
    • Shoffner, J.M.1    Brown, M.D.2    Stugard, C.3
  • 21
    • 0033623822 scopus 로고    scopus 로고
    • Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
    • Kirby D.M., Kahler S.G., Freckmann M.-L., et al. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 48 (2000) 102-104
    • (2000) Ann Neurol , vol.48 , pp. 102-104
    • Kirby, D.M.1    Kahler, S.G.2    Freckmann, M.-L.3
  • 22
    • 0041454624 scopus 로고    scopus 로고
    • Leber's Optic Neuropathy
    • Miller N.R., and Newman N.J. (Eds), Williams & Wilkins, Baltimore
    • Newman N.J. Leber's Optic Neuropathy. In: Miller N.R., and Newman N.J. (Eds). Walsh and Hoyt's Clinical Neuro-Ophthalmology. (1998), Williams & Wilkins, Baltimore 742-753
    • (1998) Walsh and Hoyt's Clinical Neuro-Ophthalmology. , pp. 742-753
    • Newman, N.J.1
  • 23
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • Smith J.L., Hoyt W.F., and Susac J.O. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 90 (1973) 349-354
    • (1973) Arch Ophthalmol , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 24
    • 0020602931 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members
    • Nikoskelainen E., Hoyt W.F., and Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members. Arch Ophthalmol 101 (1983) 1059-1068
    • (1983) Arch Ophthalmol , vol.101 , pp. 1059-1068
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 25
    • 0021255222 scopus 로고
    • Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies
    • Nikoskelainen E., Hoyt W.F., Nummelin K., and Schatz H. Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies. Arch Ophthalmol 102 (1984) 981-989
    • (1984) Arch Ophthalmol , vol.102 , pp. 981-989
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3    Schatz, H.4
  • 26
    • 0019989454 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
    • Nikoskelainen E., Hoyt W.F., and Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch Ophthalmol 100 (1982) 1597-1602
    • (1982) Arch Ophthalmol , vol.100 , pp. 1597-1602
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 27
    • 0032868149 scopus 로고    scopus 로고
    • Comparing pupil function with visual function in patients with Leber's hereditary optic neuropathy
    • Bremner F.D., Shallo-Hoffmann J., Riordan-Eva P., and Smith S.E. Comparing pupil function with visual function in patients with Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 40 (1999) 2528-2534
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2528-2534
    • Bremner, F.D.1    Shallo-Hoffmann, J.2    Riordan-Eva, P.3    Smith, S.E.4
  • 28
    • 0020673634 scopus 로고
    • Bilateral optic neuropathy with remission in young men: variation on a theme by Leber?
    • Lessell S., Gise R.L., and Krohel G.B. Bilateral optic neuropathy with remission in young men: variation on a theme by Leber?. Arch Neurol 40 (1983) 2-6
    • (1983) Arch Neurol , vol.40 , pp. 2-6
    • Lessell, S.1    Gise, R.L.2    Krohel, G.B.3
  • 29
    • 0026554382 scopus 로고
    • Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
    • Stone E.M., Newman N.J., Miller N.R., et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol 12 (1992) 10-14
    • (1992) J Clin Neuroophthalmol , vol.12 , pp. 10-14
    • Stone, E.M.1    Newman, N.J.2    Miller, N.R.3
  • 30
    • 0032192258 scopus 로고    scopus 로고
    • Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery
    • Pezzi P.P., De Negri A.M., Sadun F., et al. Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery. Pediatr Neurol 19 (1998) 308-312
    • (1998) Pediatr Neurol , vol.19 , pp. 308-312
    • Pezzi, P.P.1    De Negri, A.M.2    Sadun, F.3
  • 31
    • 0033391709 scopus 로고    scopus 로고
    • Atypical Leber's hereditary optic neuropathy: a case with five different episodes of visual disturbance
    • Chuman H., Nao-I N., Chuman T., et al. Atypical Leber's hereditary optic neuropathy: a case with five different episodes of visual disturbance. Neuroophthalmology 22 (1999) 195-198
    • (1999) Neuroophthalmology , vol.22 , pp. 195-198
    • Chuman, H.1    Nao-I, N.2    Chuman, T.3
  • 32
    • 84975487978 scopus 로고    scopus 로고
    • Stargardt's type maculopathy in a patient with 11778 Leber's optic neuropathy
    • Yen M.-Y., Wei Y.-H., and Liu J.-H. Stargardt's type maculopathy in a patient with 11778 Leber's optic neuropathy. J Neuroophthalmol 16 (1996) 120-123
    • (1996) J Neuroophthalmol , vol.16 , pp. 120-123
    • Yen, M.-Y.1    Wei, Y.-H.2    Liu, J.-H.3
  • 33
    • 0027319729 scopus 로고
    • Atypical Leber's hereditary optic neuropathy with molecular confirmation
    • Weiner N.C., Newman N.J., Lessell S., et al. Atypical Leber's hereditary optic neuropathy with molecular confirmation. Arch Neurol 50 (1993) 470-473
    • (1993) Arch Neurol , vol.50 , pp. 470-473
    • Weiner, N.C.1    Newman, N.J.2    Lessell, S.3
  • 34
    • 0030968727 scopus 로고    scopus 로고
    • On the many faces of Leber hereditary optic neuropathy
    • Oostra R.J., Tijmers N.T., Cobben J.M., et al. On the many faces of Leber hereditary optic neuropathy. Clin Genet 51 (1997) 388-393
    • (1997) Clin Genet , vol.51 , pp. 388-393
    • Oostra, R.J.1    Tijmers, N.T.2    Cobben, J.M.3
  • 35
    • 0032816392 scopus 로고    scopus 로고
    • A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls
    • Thieme H., Wissinger B., Jandeck C., et al. A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls. Graefe's Arch Clin Exp Ophthalmol 237 (1999) 714-719
    • (1999) Graefe's Arch Clin Exp Ophthalmol , vol.237 , pp. 714-719
    • Thieme, H.1    Wissinger, B.2    Jandeck, C.3
  • 36
    • 0014802823 scopus 로고
    • The heart in Leber's optic atrophy
    • Rose F.C., Bowden A.N., and Bowden P. The heart in Leber's optic atrophy. Br J Ophthal 54 (1970) 388-393
    • (1970) Br J Ophthal , vol.54 , pp. 388-393
    • Rose, F.C.1    Bowden, A.N.2    Bowden, P.3
  • 37
    • 0026729681 scopus 로고
    • Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy
    • Ortiz R.G., Newman N.J., Manoukian S.V., et al. Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. Am J Ophthalmol 113 (1992) 561-566
    • (1992) Am J Ophthalmol , vol.113 , pp. 561-566
    • Ortiz, R.G.1    Newman, N.J.2    Manoukian, S.V.3
  • 38
    • 0026654563 scopus 로고
    • Cardiac arrhythmia and Leber's hereditary optic neuropathy
    • Bower S.P.C., Hawley I., and Mackey D.A. Cardiac arrhythmia and Leber's hereditary optic neuropathy. Lancet 339 (1992) 1427-1428
    • (1992) Lancet , vol.339 , pp. 1427-1428
    • Bower, S.P.C.1    Hawley, I.2    Mackey, D.A.3
  • 39
    • 0030454025 scopus 로고    scopus 로고
    • High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y., Kigasawa K., Hasegawa H., et al. High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy. Clin Genet 50 (1996) 535-537
    • (1996) Clin Genet , vol.50 , pp. 535-537
    • Mashima, Y.1    Kigasawa, K.2    Hasegawa, H.3
  • 40
    • 0025936841 scopus 로고
    • Leber's hereditary optic neuropathy and complex I deficiency in muscle
    • Larson N.G., Andersen O., Holme E., et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 30 (1991) 701-708
    • (1991) Ann Neurol , vol.30 , pp. 701-708
    • Larson, N.G.1    Andersen, O.2    Holme, E.3
  • 41
    • 0029027650 scopus 로고
    • Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy
    • Montagna P., Plazzi G., Cortelli P., et al. Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy. J Neurol Neurosurg Psych 58 (1995) 640-641
    • (1995) J Neurol Neurosurg Psych , vol.58 , pp. 640-641
    • Montagna, P.1    Plazzi, G.2    Cortelli, P.3
  • 42
    • 0025913742 scopus 로고
    • Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family
    • Cortelli P., Montagna P., Avoni P., et al. Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology 41 (1991) 1211-1215
    • (1991) Neurology , vol.41 , pp. 1211-1215
    • Cortelli, P.1    Montagna, P.2    Avoni, P.3
  • 43
    • 0029153644 scopus 로고
    • Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation
    • Barbiroli B., Montagna P., Cortelli P., et al. Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation. Neurology 45 (1995) 1364-1369
    • (1995) Neurology , vol.45 , pp. 1364-1369
    • Barbiroli, B.1    Montagna, P.2    Cortelli, P.3
  • 44
    • 0029166941 scopus 로고
    • Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy
    • Nikoskelainen E.K., Marttila R.J., Huoponen K., et al. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatr 59 (1995) 160-164
    • (1995) J Neurol Neurosurg Psychiatr , vol.59 , pp. 160-164
    • Nikoskelainen, E.K.1    Marttila, R.J.2    Huoponen, K.3
  • 45
    • 0002699021 scopus 로고
    • A sex-linked heredo-degenerative neurological disorder associated with Leber's hereditary optic atrophy: Part I. Clinical studies
    • Bruyn G.W., and Went L.N. A sex-linked heredo-degenerative neurological disorder associated with Leber's hereditary optic atrophy: Part I. Clinical studies. J Neurol Sci 1 (1964) 59-80
    • (1964) J Neurol Sci , vol.1 , pp. 59-80
    • Bruyn, G.W.1    Went, L.N.2
  • 46
    • 0014706751 scopus 로고
    • A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance
    • Wallace D.C. A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain 93 (1970) 121-132
    • (1970) Brain , vol.93 , pp. 121-132
    • Wallace, D.C.1
  • 47
    • 0022527309 scopus 로고
    • Leber's disease and dystonia: a mitochondrial disease
    • Novotny E.J., Singh G., Wallace D.C., et al. Leber's disease and dystonia: a mitochondrial disease. Neurology 36 (1986) 1053-1060
    • (1986) Neurology , vol.36 , pp. 1053-1060
    • Novotny, E.J.1    Singh, G.2    Wallace, D.C.3
  • 48
    • 0026782507 scopus 로고
    • Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Harding A.E., Sweeney M.G., Miller D.H., et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115 (1992) 979-989
    • (1992) Brain , vol.115 , pp. 979-989
    • Harding, A.E.1    Sweeney, M.G.2    Miller, D.H.3
  • 50
    • 0015164643 scopus 로고
    • Neurological studies in families with Leber's optic atrophy
    • De Weerdt C.J., and Went L.N. Neurological studies in families with Leber's optic atrophy. Acta Neurol Scand 47 (1971) 541-554
    • (1971) Acta Neurol Scand , vol.47 , pp. 541-554
    • De Weerdt, C.J.1    Went, L.N.2
  • 51
    • 2542509663 scopus 로고    scopus 로고
    • A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation
    • Bhatti M.T., and Newman N.J. A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation. J Neuroophthalmol 19 (1999) 28-33
    • (1999) J Neuroophthalmol , vol.19 , pp. 28-33
    • Bhatti, M.T.1    Newman, N.J.2
  • 52
    • 0033879510 scopus 로고    scopus 로고
    • Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis
    • Vanopdenbosch L., Dubois B., D'Hooghe M.-B., et al. Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis. J Neurol 247 (2000) 535-543
    • (2000) J Neurol , vol.247 , pp. 535-543
    • Vanopdenbosch, L.1    Dubois, B.2    D'Hooghe, M.-B.3
  • 53
    • 0031656952 scopus 로고    scopus 로고
    • Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?
    • Kalman B., and Alder H. Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?. Acta Neurol Scand 98 (1998) 232-237
    • (1998) Acta Neurol Scand , vol.98 , pp. 232-237
    • Kalman, B.1    Alder, H.2
  • 54
    • 0029810729 scopus 로고    scopus 로고
    • Sequence of mitochondrial DNA in patients with multiple sclerosis
    • Chalmers R.M., Robertson N., Compston D., and Harding A.E. Sequence of mitochondrial DNA in patients with multiple sclerosis. Ann Neurol 40 (1996) 239-243
    • (1996) Ann Neurol , vol.40 , pp. 239-243
    • Chalmers, R.M.1    Robertson, N.2    Compston, D.3    Harding, A.E.4
  • 55
    • 0028337837 scopus 로고
    • Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
    • Kellar-Wood H., Robertson N., Govan G.G., et al. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 36 (1994) 109-112
    • (1994) Ann Neurol , vol.36 , pp. 109-112
    • Kellar-Wood, H.1    Robertson, N.2    Govan, G.G.3
  • 56
    • 0030774591 scopus 로고    scopus 로고
    • LHON mutations in Italian patients affected by multiple sclerosis
    • Leuzzi V., Carducci C., Lanza M., et al. LHON mutations in Italian patients affected by multiple sclerosis. Acta Neurol Scand 96 (1997) 145-148
    • (1997) Acta Neurol Scand , vol.96 , pp. 145-148
    • Leuzzi, V.1    Carducci, C.2    Lanza, M.3
  • 57
    • 0025312304 scopus 로고
    • Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein
    • Loveland B., Wang C.-R., Yonekawa H., et al. Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein. Cell 60 (1990) 971-980
    • (1990) Cell , vol.60 , pp. 971-980
    • Loveland, B.1    Wang, C.-R.2    Yonekawa, H.3
  • 58
    • 0029041731 scopus 로고
    • Antibodies to human optic nerve in Leber's hereditary optic neuropathy
    • Smith P.R., Cooper J.M., Govan G.G., et al. Antibodies to human optic nerve in Leber's hereditary optic neuropathy. J Neurol Sci 130 (1995) 134-138
    • (1995) J Neurol Sci , vol.130 , pp. 134-138
    • Smith, P.R.1    Cooper, J.M.2    Govan, G.G.3
  • 59
    • 0025088042 scopus 로고
    • Etiology and clinical aspects of palatal myoclonus
    • Diehl G.E., and Wilmes E. Etiology and clinical aspects of palatal myoclonus. Laryngorhinootologie 69 (1990) 369-372
    • (1990) Laryngorhinootologie , vol.69 , pp. 369-372
    • Diehl, G.E.1    Wilmes, E.2
  • 60
    • 0027207688 scopus 로고
    • Central nervous system involvement in Leber's optic neuropathy
    • Paulus W., Straube A., Bauer W., and Harding A.E. Central nervous system involvement in Leber's optic neuropathy. J Neurol 240 (1993) 251-253
    • (1993) J Neurol , vol.240 , pp. 251-253
    • Paulus, W.1    Straube, A.2    Bauer, W.3    Harding, A.E.4
  • 61
    • 0029845551 scopus 로고    scopus 로고
    • Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14484 mitochondrial DNA mutation
    • Funalot B., Ranoux D., Mas J.L., et al. Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14484 mitochondrial DNA mutation. J Neurol Neurosurg Psych 61 (1996) 533-534
    • (1996) J Neurol Neurosurg Psych , vol.61 , pp. 533-534
    • Funalot, B.1    Ranoux, D.2    Mas, J.L.3
  • 62
    • 0025295949 scopus 로고
    • BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement
    • Mondelli M., Rossi A., Scarpini C., et al. BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement. Acta Neurol Scand 81 (1990) 349-353
    • (1990) Acta Neurol Scand , vol.81 , pp. 349-353
    • Mondelli, M.1    Rossi, A.2    Scarpini, C.3
  • 63
    • 0028801062 scopus 로고
    • Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations
    • Meire F.M., Van Coster R., Cochaux P., et al. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalm Genet 16 (1995) 119-126
    • (1995) Ophthalm Genet , vol.16 , pp. 119-126
    • Meire, F.M.1    Van Coster, R.2    Cochaux, P.3
  • 64
    • 0030669154 scopus 로고    scopus 로고
    • Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia
    • Thobois S., Vighetto A., Grochowicki M., et al. Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia. Rev Neurol 153 (1997) 595-598
    • (1997) Rev Neurol , vol.153 , pp. 595-598
    • Thobois, S.1    Vighetto, A.2    Grochowicki, M.3
  • 65
    • 0029969778 scopus 로고    scopus 로고
    • A case-control study of Leber's hereditary optic neuropathy
    • Chalmers R.M., and Harding A.E. A case-control study of Leber's hereditary optic neuropathy. Brain 119 (1996) 1481-1486
    • (1996) Brain , vol.119 , pp. 1481-1486
    • Chalmers, R.M.1    Harding, A.E.2
  • 66
    • 0033544323 scopus 로고    scopus 로고
    • Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
    • Simon D.K., Pulst S.M., Sutton J.P., et al. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 53 (1999) 1787-1793
    • (1999) Neurology , vol.53 , pp. 1787-1793
    • Simon, D.K.1    Pulst, S.M.2    Sutton, J.P.3
  • 67
    • 0028860179 scopus 로고
    • Cerebellar ataxia in patients with Leber's hereditary optic neuropathy
    • Funakawa I., Kato H., Terao A., et al. Cerebellar ataxia in patients with Leber's hereditary optic neuropathy. J Neurol 242 (1995) 75-77
    • (1995) J Neurol , vol.242 , pp. 75-77
    • Funakawa, I.1    Kato, H.2    Terao, A.3
  • 68
    • 0030272062 scopus 로고    scopus 로고
    • Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation
    • Murakami T., Mita S., Tokunaga M., et al. Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation. J Neurol Sci 142 (1996) 111-113
    • (1996) J Neurol Sci , vol.142 , pp. 111-113
    • Murakami, T.1    Mita, S.2    Tokunaga, M.3
  • 69
    • 0001786616 scopus 로고
    • Leber's hereditary optic atrophy. Some clinical and aetiological considerations
    • Wilson J. Leber's hereditary optic atrophy. Some clinical and aetiological considerations. Brain 86 (1963) 347-362
    • (1963) Brain , vol.86 , pp. 347-362
    • Wilson, J.1
  • 70
    • 0028100561 scopus 로고
    • A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation
    • Howell N., Xu M., Halvorson S., et al. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55 (1994) 203-206
    • (1994) Am J Hum Genet , vol.55 , pp. 203-206
    • Howell, N.1    Xu, M.2    Halvorson, S.3
  • 71
    • 84907115453 scopus 로고
    • Mitochondrial DNA analysis in Leber's hereditary optic neuropathy
    • Barboni P., Mantovani V., Montagna P., et al. Mitochondrial DNA analysis in Leber's hereditary optic neuropathy. Ophthalm Paediatr 13 (1992) 219-226
    • (1992) Ophthalm Paediatr , vol.13 , pp. 219-226
    • Barboni, P.1    Mantovani, V.2    Montagna, P.3
  • 72
    • 0018696862 scopus 로고
    • Leber's optic neuropathy: a clinical and visually evoked potential study of affected and asymptomatic members of a six generation family
    • Carroll W.M., and Mastaglia F.L. Leber's optic neuropathy: a clinical and visually evoked potential study of affected and asymptomatic members of a six generation family. Brain 102 (1979) 559-580
    • (1979) Brain , vol.102 , pp. 559-580
    • Carroll, W.M.1    Mastaglia, F.L.2
  • 73
    • 0000088053 scopus 로고
    • Visual system dysfunction in Leber's hereditary optic neuropathy
    • Sherman J., and Kleiner L. Visual system dysfunction in Leber's hereditary optic neuropathy. Clin Neurosci 2 (1994) 121-129
    • (1994) Clin Neurosci , vol.2 , pp. 121-129
    • Sherman, J.1    Kleiner, L.2
  • 74
    • 0031960873 scopus 로고    scopus 로고
    • Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy
    • Mashima Y., Oshitari K., Imamura Y., et al. Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 64 (1998) 124-127
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 124-127
    • Mashima, Y.1    Oshitari, K.2    Imamura, Y.3
  • 75
    • 84975473119 scopus 로고    scopus 로고
    • Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy
    • Vaphiades M.S., and Newman N.J. Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy. J Neuroophthalmol 19 (1999) 238-239
    • (1999) J Neuroophthalmol , vol.19 , pp. 238-239
    • Vaphiades, M.S.1    Newman, N.J.2
  • 76
    • 0032497575 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient
    • Carelli V., Barboni P., Zacchini A., et al. Leber's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient. J Neurol Sci 160 (1998) 183-188
    • (1998) J Neurol Sci , vol.160 , pp. 183-188
    • Carelli, V.1    Barboni, P.2    Zacchini, A.3
  • 77
    • 0031148560 scopus 로고    scopus 로고
    • Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy. A clinical and 31P-MRS study
    • Cortelli P., Montagna P., Pierangeli G., et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy. A clinical and 31P-MRS study. J Neurol Sci 148 (1997) 25-31
    • (1997) J Neurol Sci , vol.148 , pp. 25-31
    • Cortelli, P.1    Montagna, P.2    Pierangeli, G.3
  • 78
    • 0000899960 scopus 로고
    • The neuropathology of hereditary optic atrophy (Leber's disease: the first complete anatomic study)
    • Kwittken J., and Barest H.D. The neuropathology of hereditary optic atrophy (Leber's disease: the first complete anatomic study). Am J Pathol 34 (1958) 185-207
    • (1958) Am J Pathol , vol.34 , pp. 185-207
    • Kwittken, J.1    Barest, H.D.2
  • 79
    • 0013887061 scopus 로고
    • Further clinical and pathological observations on Leber's optic atrophy
    • Adams J.H., Blackwood W., and Wilson J. Further clinical and pathological observations on Leber's optic atrophy. Brain 89 (1966) 15-26
    • (1966) Brain , vol.89 , pp. 15-26
    • Adams, J.H.1    Blackwood, W.2    Wilson, J.3
  • 80
    • 0026654706 scopus 로고
    • Distended optic nerve sheaths in Leber's hereditary optic neuropathy
    • De Gottrau P., Buchi E.R., and Daicker B. Distended optic nerve sheaths in Leber's hereditary optic neuropathy. J Clin Neuroophthalmol 12 (1992) 89-93
    • (1992) J Clin Neuroophthalmol , vol.12 , pp. 89-93
    • De Gottrau, P.1    Buchi, E.R.2    Daicker, B.3
  • 81
    • 0031936741 scopus 로고    scopus 로고
    • Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations
    • Mitani I., Miyazaki S., Hayashi T., et al. Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. Acta Ophthalmol Scand 76 (1998) 14-19
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 14-19
    • Mitani, I.1    Miyazaki, S.2    Hayashi, T.3
  • 82
    • 0001626214 scopus 로고
    • Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy
    • Sadun A.A., Kashima Y., Wurdeman A.E., et al. Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin Neurosci 2 (1994) 165-172
    • (1994) Clin Neurosci , vol.2 , pp. 165-172
    • Sadun, A.A.1    Kashima, Y.2    Wurdeman, A.E.3
  • 83
    • 0028858450 scopus 로고
    • Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case
    • Kerrison J.B., Howell N., Miller N.R., et al. Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case. Ophthalmology 102 (1995) 1509-1516
    • (1995) Ophthalmology , vol.102 , pp. 1509-1516
    • Kerrison, J.B.1    Howell, N.2    Miller, N.R.3
  • 84
    • 77957130404 scopus 로고    scopus 로고
    • Carelli V, Saadati HG, Madigan M, et al. Leber's hereditary optic neuropathy hystopathology suggests optic nerve axoplasmic stasis as the key pathophysiologic feature. Presented at: EUROMIT 4; September 16-19, 1999; Queens College, Cambridge, United Kingdom.
    • Carelli V, Saadati HG, Madigan M, et al. Leber's hereditary optic neuropathy hystopathology suggests optic nerve axoplasmic stasis as the key pathophysiologic feature. Presented at: EUROMIT 4; September 16-19, 1999; Queens College, Cambridge, United Kingdom.
  • 85
    • 0034520010 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy (LHON) differentially affects smaller axons in the optic nerve
    • Sadun A.A., Ho Win P., Ross-Cisneros F., et al. Leber's hereditary optic neuropathy (LHON) differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc 98 (2000) 223-232
    • (2000) Trans Am Ophthalmol Soc , vol.98 , pp. 223-232
    • Sadun, A.A.1    Ho Win, P.2    Ross-Cisneros, F.3
  • 86
    • 0035182136 scopus 로고    scopus 로고
    • The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
    • Chinnery P.F., Brown D.T., Andrews R.M., et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 124 (2001) 209-218
    • (2001) Brain , vol.124 , pp. 209-218
    • Chinnery, P.F.1    Brown, D.T.2    Andrews, R.M.3
  • 87
    • 0029064615 scopus 로고
    • Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
    • Harding A.E., Sweeney M.G., Govan G.G., and Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57 (1995) 77-86
    • (1995) Am J Hum Genet , vol.57 , pp. 77-86
    • Harding, A.E.1    Sweeney, M.G.2    Govan, G.G.3    Riordan-Eva, P.4
  • 88
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • Newman N.J., Lott M.T., and Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111 (1991) 750-762
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 89
    • 0031951430 scopus 로고    scopus 로고
    • Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
    • Macmillan C., Kirkham T., Fu K., et al. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology 50 (1998) 417-422
    • (1998) Neurology , vol.50 , pp. 417-422
    • Macmillan, C.1    Kirkham, T.2    Fu, K.3
  • 90
    • 0026495869 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestation of the 3460 mutation
    • Johns D.R., Smith K.H., and Miller N.R. Leber's hereditary optic neuropathy. Clinical manifestation of the 3460 mutation. Arch Ophthalmol 110 (1992) 1577-1581
    • (1992) Arch Ophthalmol , vol.110 , pp. 1577-1581
    • Johns, D.R.1    Smith, K.H.2    Miller, N.R.3
  • 91
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • Torroni A., Petrozzi M., D'Urbano L., et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60 (1997) 1107-1121
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3
  • 92
    • 0029102268 scopus 로고
    • Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation
    • Black G.C.M., Craig I.W., Oostra R.J., et al. Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation. Eye 9 (1995) 513-516
    • (1995) Eye , vol.9 , pp. 513-516
    • Black, G.C.M.1    Craig, I.W.2    Oostra, R.J.3
  • 93
    • 0030786039 scopus 로고    scopus 로고
    • mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuropathy
    • Lamminen T., Huoponen K., Sistonen P., et al. mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuropathy. Eur J Hum Genet 5 (1997) 271-279
    • (1997) Eur J Hum Genet , vol.5 , pp. 271-279
    • Lamminen, T.1    Huoponen, K.2    Sistonen, P.3
  • 94
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestation of the 14484 mutation
    • Johns D.R., Heher K.L., Miller N.R., and Smith K.H. Leber's hereditary optic neuropathy. Clinical manifestation of the 14484 mutation. Arch Ophthalmol 111 (1993) 495-498
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 95
    • 0030985186 scopus 로고    scopus 로고
    • Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations
    • Hofmann S., Bezold R., Jaksch M., et al. Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations. Am J Hum Genet 60 (1997) 1539-1542
    • (1997) Am J Hum Genet , vol.60 , pp. 1539-1542
    • Hofmann, S.1    Bezold, R.2    Jaksch, M.3
  • 96
    • 0027360029 scopus 로고
    • The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
    • Huoponen K., Lamminen T., Juvonen V., et al. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum Genet 92 (1993) 379-384
    • (1993) Hum Genet , vol.92 , pp. 379-384
    • Huoponen, K.1    Lamminen, T.2    Juvonen, V.3
  • 97
    • 0031893037 scopus 로고    scopus 로고
    • mtDNA mutations that cause optic neuropathy: how do we know
    • Howell N., Bogolin C., Jamieson R., et al. mtDNA mutations that cause optic neuropathy: how do we know. Am J Hum Genet 62 (1998) 196-202
    • (1998) Am J Hum Genet , vol.62 , pp. 196-202
    • Howell, N.1    Bogolin, C.2    Jamieson, R.3
  • 98
    • 0031578236 scopus 로고    scopus 로고
    • Mutation analysis of the ND6 gene in patients with Leber's hereditary optic neuropathy
    • Wissinger B., Besch D., Baumann B., et al. Mutation analysis of the ND6 gene in patients with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 234 (1997) 511-515
    • (1997) Biochem Biophys Res Commun , vol.234 , pp. 511-515
    • Wissinger, B.1    Besch, D.2    Baumann, B.3
  • 99
    • 0027380091 scopus 로고
    • When does bilateral optic atrophy become Leber hereditary optic neuropathy
    • Howell N., Halvorson S., Burns J., et al. When does bilateral optic atrophy become Leber hereditary optic neuropathy. Am J Hum Genet 53 (1993) 959-963
    • (1993) Am J Hum Genet , vol.53 , pp. 959-963
    • Howell, N.1    Halvorson, S.2    Burns, J.3
  • 100
    • 0026702249 scopus 로고
    • Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
    • Brown M.D., Voljavec A.S., Lott M.T., et al. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J 6 (1992) 2791-2799
    • (1992) FASEB J , vol.6 , pp. 2791-2799
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3
  • 101
    • 0027425369 scopus 로고
    • Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
    • Johns D.R., and Neufeld M.J. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 196 (1993) 810-815
    • (1993) Biochem Biophys Res Commun , vol.196 , pp. 810-815
    • Johns, D.R.1    Neufeld, M.J.2
  • 102
    • 0028908634 scopus 로고
    • A mitochondrial mutation at np 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy
    • Lamminen T., Majander A., Juvonen V., et al. A mitochondrial mutation at np 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am J Hum Genet 56 (1995) 1238-1240
    • (1995) Am J Hum Genet , vol.56 , pp. 1238-1240
    • Lamminen, T.1    Majander, A.2    Juvonen, V.3
  • 103
    • 0031812281 scopus 로고    scopus 로고
    • Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON
    • Mather M.W., and Rottenberg H. Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON. FEBS Lett 433 (1998) 93-97
    • (1998) FEBS Lett , vol.433 , pp. 93-97
    • Mather, M.W.1    Rottenberg, H.2
  • 104
    • 0034976981 scopus 로고    scopus 로고
    • Optic neuropathy in LHON and Leigh syndrome: a common pathogenic mechanism?
    • Carelli V., and Sadun A.A. Optic neuropathy in LHON and Leigh syndrome: a common pathogenic mechanism?. Ophthalmology 108 7 (2001) 1172-1173
    • (2001) Ophthalmology , vol.108 , Issue.7 , pp. 1172-1173
    • Carelli, V.1    Sadun, A.A.2
  • 105
    • 0028566729 scopus 로고
    • Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences
    • Cavanagh J.B., and Harding B.N. Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 117 (1994) 1357-1376
    • (1994) Brain , vol.117 , pp. 1357-1376
    • Cavanagh, J.B.1    Harding, B.N.2
  • 106
    • 0033761610 scopus 로고    scopus 로고
    • Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome
    • Hayashi N., Geraghty M.T., and Green W.R. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. Ophthalmology 107 (2000) 1397-1402
    • (2000) Ophthalmology , vol.107 , pp. 1397-1402
    • Hayashi, N.1    Geraghty, M.T.2    Green, W.R.3
  • 107
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • De Vries D.D., Went L.N., Bruyn G.W., 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 58 (1996) 703-711
    • (1996) Am J Hum Genet , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3
  • 108
    • 0026472985 scopus 로고
    • Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings
    • Bruyn G.W., Bots G., Went L.N., and Klinkhamer P.J.J.M. Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings. J Neurol Sci 113 (1992) 55-61
    • (1992) J Neurol Sci , vol.113 , pp. 55-61
    • Bruyn, G.W.1    Bots, G.2    Went, L.N.3    Klinkhamer, P.J.J.M.4
  • 109
    • 0025897119 scopus 로고
    • Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
    • Howell N., Kubacka I., Xu M., and McCullough D.A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48 (1991) 935-942
    • (1991) Am J Hum Genet , vol.48 , pp. 935-942
    • Howell, N.1    Kubacka, I.2    Xu, M.3    McCullough, D.A.4
  • 110
    • 0000869712 scopus 로고
    • Primary LHON mutations: trying to separate "Fruyt from Chaf."
    • Howell N. Primary LHON mutations: trying to separate "Fruyt from Chaf.". Clin Neurosci 2 (1994) 130-137
    • (1994) Clin Neurosci , vol.2 , pp. 130-137
    • Howell, N.1
  • 111
    • 0032707838 scopus 로고    scopus 로고
    • The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
    • Pulkes T., Eunson L., Patterson V., et al. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 46 (1999) 916-919
    • (1999) Ann Neurol , vol.46 , pp. 916-919
    • Pulkes, T.1    Eunson, L.2    Patterson, V.3
  • 112
    • 0026036025 scopus 로고
    • Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Johns D.R., and Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174 (1991) 1324-1330
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 113
    • 0026337654 scopus 로고
    • Cytochrome b mutations in Leber hereditary optic neuropathy
    • Johns D.R., and Neufeld M.J. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 181 (1991) 1551-1557
    • (1991) Biochem Biophys Res Commun , vol.181 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2
  • 114
    • 0026531040 scopus 로고
    • Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    • Brown M.D., Voljavec A.S., Lott M.T., et al. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130 (1992) 163-173
    • (1992) Genetics , vol.130 , pp. 163-173
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3
  • 115
    • 0027978132 scopus 로고
    • Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation
    • Oostra R.-J., Bolhuis P.A., Zorn-Ende I., et al. Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet 94 (1994) 265-270
    • (1994) Hum Genet , vol.94 , pp. 265-270
    • Oostra, R.-J.1    Bolhuis, P.A.2    Zorn-Ende, I.3
  • 116
    • 0026753354 scopus 로고
    • A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    • Brown M.D., Yang C.-C., Trounce I., et al. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet 51 (1992) 378-385
    • (1992) Am J Hum Genet , vol.51 , pp. 378-385
    • Brown, M.D.1    Yang, C.-C.2    Trounce, I.3
  • 117
    • 0032742973 scopus 로고    scopus 로고
    • Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy
    • Matsumoto M., Hayasaka S., Kadoi C., et al. Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy. Ophthal Genet 20 (1999) 153-160
    • (1999) Ophthal Genet , vol.20 , pp. 153-160
    • Matsumoto, M.1    Hayasaka, S.2    Kadoi, C.3
  • 118
    • 0027964745 scopus 로고
    • Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy
    • Brown M.D., Torroni A., Huoponen K., et al. Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. Am J Hum Genet 55 (1994) 410
    • (1994) Am J Hum Genet , vol.55 , pp. 410
    • Brown, M.D.1    Torroni, A.2    Huoponen, K.3
  • 119
    • 0027195652 scopus 로고
    • Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation
    • Johns D.R., Smith K.H., Savino P.J., and Miller N.R. Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation. Ophthalmology 100 (1993) 981-986
    • (1993) Ophthalmology , vol.100 , pp. 981-986
    • Johns, D.R.1    Smith, K.H.2    Savino, P.J.3    Miller, N.R.4
  • 120
    • 0029816017 scopus 로고    scopus 로고
    • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
    • Mackey D.A., Oostra R.-J., Rosenberg T., et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59 (1996) 481-485
    • (1996) Am J Hum Genet , vol.59 , pp. 481-485
    • Mackey, D.A.1    Oostra, R.-J.2    Rosenberg, T.3
  • 121
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • Brown M.D., Sun F., and Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60 (1997) 381-387
    • (1997) Am J Hum Genet , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 122
    • 0030813676 scopus 로고    scopus 로고
    • Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease
    • Hofmann S., Jaksch M., Bezold R., et al. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6 (1997) 1835-1846
    • (1997) Hum Mol Genet , vol.6 , pp. 1835-1846
    • Hofmann, S.1    Jaksch, M.2    Bezold, R.3
  • 123
    • 0033925115 scopus 로고    scopus 로고
    • Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect
    • MacMillan C., Johns T.A., Fu K., and Shoubridge E.A. Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. Am J Hum Genet 66 (2000) 332-335
    • (2000) Am J Hum Genet , vol.66 , pp. 332-335
    • MacMillan, C.1    Johns, T.A.2    Fu, K.3    Shoubridge, E.A.4
  • 124
    • 0028095263 scopus 로고
    • Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy
    • Torroni A., Carelli V., Petrozzi M., et al. Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genet 55 (1994) 760-776
    • (1994) Am J Hum Genet , vol.55 , pp. 760-776
    • Torroni, A.1    Carelli, V.2    Petrozzi, M.3
  • 125
    • 84975492602 scopus 로고    scopus 로고
    • High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy
    • Yamada K., Mashima Y., Kigasawa K., et al. High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy. J Neuroophthalmol 17 (1997) 103-107
    • (1997) J Neuroophthalmol , vol.17 , pp. 103-107
    • Yamada, K.1    Mashima, Y.2    Kigasawa, K.3
  • 126
    • 0032833421 scopus 로고    scopus 로고
    • Mitochondrial DNA variation in human evolution and disease
    • Wallace D.C., Brown M.D., and Lott M.T. Mitochondrial DNA variation in human evolution and disease. Gene 238 (1999) 211-230
    • (1999) Gene , vol.238 , pp. 211-230
    • Wallace, D.C.1    Brown, M.D.2    Lott, M.T.3
  • 127
    • 0033847638 scopus 로고    scopus 로고
    • "Secondary" 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation
    • Lodi R., Montagna P., Cortelli P., et al. "Secondary" 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain 123 (2000) 1896-1902
    • (2000) Brain , vol.123 , pp. 1896-1902
    • Lodi, R.1    Montagna, P.2    Cortelli, P.3
  • 128
    • 0032851615 scopus 로고    scopus 로고
    • Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans
    • De Benedictis G., Rose G., Carrieri G., et al. Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J 13 (1999) 1532-1536
    • (1999) FASEB J , vol.13 , pp. 1532-1536
    • De Benedictis, G.1    Rose, G.2    Carrieri, G.3
  • 129
    • 0031965731 scopus 로고    scopus 로고
    • Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y., Yamada K., Wakasura K., et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 17 (1998) 403-408
    • (1998) Curr Eye Res , vol.17 , pp. 403-408
    • Mashima, Y.1    Yamada, K.2    Wakasura, K.3
  • 130
    • 0024306492 scopus 로고
    • Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy
    • Holt I.J., Miller D.H., and Harding A.E. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet 26 (1989) 739-743
    • (1989) J Med Genet , vol.26 , pp. 739-743
    • Holt, I.J.1    Miller, D.H.2    Harding, A.E.3
  • 131
    • 18744426519 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype
    • Carelli V., Ghelli A., Ratta M., et al. Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology 48 (1997) 1623-1632
    • (1997) Neurology , vol.48 , pp. 1623-1632
    • Carelli, V.1    Ghelli, A.2    Ratta, M.3
  • 132
    • 0030989776 scopus 로고    scopus 로고
    • Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
    • Juvonen V., Nikoskelainen E., Lamminen T., et al. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. Hum Mutat 9 (1997) 412-417
    • (1997) Hum Mutat , vol.9 , pp. 412-417
    • Juvonen, V.1    Nikoskelainen, E.2    Lamminen, T.3
  • 133
    • 0025336365 scopus 로고
    • Variable genotype of Leber's hereditary optic neuropathy patients
    • Lott M.T., Voljavec A.S., and Wallace D.C. Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 109 (1990) 625-631
    • (1990) Am J Ophthalmol , vol.109 , pp. 625-631
    • Lott, M.T.1    Voljavec, A.S.2    Wallace, D.C.3
  • 134
    • 0025892092 scopus 로고
    • mtDNA heteroplasmy in Leber hereditary optic neuropathy
    • Cormier V., Rotig A., Geny C., et al. mtDNA heteroplasmy in Leber hereditary optic neuropathy. Am J Hum Genet 48 (1991) 813-814
    • (1991) Am J Hum Genet , vol.48 , pp. 813-814
    • Cormier, V.1    Rotig, A.2    Geny, C.3
  • 135
    • 0029912105 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation
    • Black G.C.M., Morten K., Laborde A., and Poulton J. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Br J Ophthalmol 80 (1996) 915-917
    • (1996) Br J Ophthalmol , vol.80 , pp. 915-917
    • Black, G.C.M.1    Morten, K.2    Laborde, A.3    Poulton, J.4
  • 136
  • 137
    • 0031833764 scopus 로고    scopus 로고
    • A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression
    • Tanaka A., Kiyosawa M., Mashima Y., and Tokoro T. A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression. J Neuroophthalmol 18 (1998) 81-83
    • (1998) J Neuroophthalmol , vol.18 , pp. 81-83
    • Tanaka, A.1    Kiyosawa, M.2    Mashima, Y.3    Tokoro, T.4
  • 138
    • 0025083138 scopus 로고
    • Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy
    • Bolhuis P.A., Bleeker-Wagemakers E.M., Ponne N.J., et al. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 170 (1990) 994-997
    • (1990) Biochem Biophys Res Commun , vol.170 , pp. 994-997
    • Bolhuis, P.A.1    Bleeker-Wagemakers, E.M.2    Ponne, N.J.3
  • 139
    • 0025375332 scopus 로고
    • Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuropathy
    • Vilkki J., Savontaus M.-L., and Nikoskelainen E.K. Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuropathy. Am J Hum Genet 47 (1990) 95-100
    • (1990) Am J Hum Genet , vol.47 , pp. 95-100
    • Vilkki, J.1    Savontaus, M.-L.2    Nikoskelainen, E.K.3
  • 140
    • 0030661935 scopus 로고    scopus 로고
    • De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
    • Biousse V., Brown M.D., Newman N.J., et al. De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy. Neurology 49 (1997) 1136-1138
    • (1997) Neurology , vol.49 , pp. 1136-1138
    • Biousse, V.1    Brown, M.D.2    Newman, N.J.3
  • 141
    • 0030052504 scopus 로고    scopus 로고
    • Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing
    • Ghosh S.S., Fahy E., Bodis-Wollner I., et al. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet 58 (1996) 325-334
    • (1996) Am J Hum Genet , vol.58 , pp. 325-334
    • Ghosh, S.S.1    Fahy, E.2    Bodis-Wollner, I.3
  • 142
    • 0033989668 scopus 로고    scopus 로고
    • Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals
    • Howell N., Ghosh S.S., Fahy E., and Bindoff L.A. Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals. J Neurol Sci 172 (2000) 1-6
    • (2000) J Neurol Sci , vol.172 , pp. 1-6
    • Howell, N.1    Ghosh, S.S.2    Fahy, E.3    Bindoff, L.A.4
  • 143
    • 0032231349 scopus 로고    scopus 로고
    • Low-penetrance branches in matrilinear pedigrees with Leber hereditary optic neuropathy
    • Howell N., and Mackey D.A. Low-penetrance branches in matrilinear pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 63 (1998) 1220-1224
    • (1998) Am J Hum Genet , vol.63 , pp. 1220-1224
    • Howell, N.1    Mackey, D.A.2
  • 144
    • 0031876808 scopus 로고    scopus 로고
    • The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy
    • Cock H.R., Tabrizi S.J., Cooper J.M., and Schapira A. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy. Ann Neurol 44 (1998) 187-193
    • (1998) Ann Neurol , vol.44 , pp. 187-193
    • Cock, H.R.1    Tabrizi, S.J.2    Cooper, J.M.3    Schapira, A.4
  • 145
    • 0032927387 scopus 로고    scopus 로고
    • Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
    • Tsao K., Aitken P.A., and Johns D.R. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br J Ophthalmol 83 (1999) 577-581
    • (1999) Br J Ophthalmol , vol.83 , pp. 577-581
    • Tsao, K.1    Aitken, P.A.2    Johns, D.R.3
  • 146
    • 0027520465 scopus 로고
    • Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
    • Cullom M.E., Heher K.L., Miller N.R., et al. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 111 (1993) 1482-1485
    • (1993) Arch Ophthalmol , vol.111 , pp. 1482-1485
    • Cullom, M.E.1    Heher, K.L.2    Miller, N.R.3
  • 147
    • 0028889912 scopus 로고
    • Adenosine triphosphate deficiency: a genre of optic neuropathy
    • Rizzo III J.F. Adenosine triphosphate deficiency: a genre of optic neuropathy. Neurology 45 (1995) 11-16
    • (1995) Neurology , vol.45 , pp. 11-16
    • Rizzo III, J.F.1
  • 148
    • 0032443810 scopus 로고    scopus 로고
    • Acquired mitochondrial impairment as a cause of optic nerve disease
    • Sadun A.A. Acquired mitochondrial impairment as a cause of optic nerve disease. Tr Am Ophth Soc 56 (1998) 881-923
    • (1998) Tr Am Ophth Soc , vol.56 , pp. 881-923
    • Sadun, A.A.1
  • 149
    • 0027493447 scopus 로고
    • Identical twins who are discordant for Leber's hereditary optic neuropathy
    • Johns D.R., Smith K.H., Miller N.R., Sulewski M.E., and Bias W.B. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol 111 (1993) 1491-1494
    • (1993) Arch Ophthalmol , vol.111 , pp. 1491-1494
    • Johns, D.R.1    Smith, K.H.2    Miller, N.R.3    Sulewski, M.E.4    Bias, W.B.5
  • 150
    • 0026608148 scopus 로고
    • Evidence for metabolic trigger for Leber's hereditary optic neuropathy. A case report
    • DuBois L.G., and Feldon S.E. Evidence for metabolic trigger for Leber's hereditary optic neuropathy. A case report. J Clin Neuroophthalmol 12 1 (1992) 15-16
    • (1992) J Clin Neuroophthalmol , vol.12 , Issue.1 , pp. 15-16
    • DuBois, L.G.1    Feldon, S.E.2
  • 151
    • 0024353957 scopus 로고
    • Studies on Leber's optic neuropathy III
    • Palan A., Stehouwer A., and Went L.N. Studies on Leber's optic neuropathy III. Doc Ophthalmol 71 (1989) 77-92
    • (1989) Doc Ophthalmol , vol.71 , pp. 77-92
    • Palan, A.1    Stehouwer, A.2    Went, L.N.3
  • 152
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
    • Bu X., and Rotter J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci U S A 88 (1991) 8198-8202
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 8198-8202
    • Bu, X.1    Rotter, J.I.2
  • 153
    • 0027159181 scopus 로고
    • The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees
    • Nakamura M., Fujiwara Y., and Yamamoto M. The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees. Hum Genet 91 (1993) 339-341
    • (1993) Hum Genet , vol.91 , pp. 339-341
    • Nakamura, M.1    Fujiwara, Y.2    Yamamoto, M.3
  • 154
    • 0024380419 scopus 로고
    • Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis
    • Chen J.-D., Cox I., and Denton M.J. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet 82 (1989) 203-207
    • (1989) Hum Genet , vol.82 , pp. 203-207
    • Chen, J.-D.1    Cox, I.2    Denton, M.J.3
  • 155
    • 0029981001 scopus 로고    scopus 로고
    • Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy
    • Chalmers R.M., Davis M.B., Sweeney M.G., et al. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet 59 (1996) 103-108
    • (1996) Am J Hum Genet , vol.59 , pp. 103-108
    • Chalmers, R.M.1    Davis, M.B.2    Sweeney, M.G.3
  • 156
    • 0030049093 scopus 로고    scopus 로고
    • X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
    • Pegoraro E., Carelli V., Zeviani M., et al. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 61 (1996) 356-362
    • (1996) Am J Med Genet , vol.61 , pp. 356-362
    • Pegoraro, E.1    Carelli, V.2    Zeviani, M.3
  • 157
    • 0033137153 scopus 로고    scopus 로고
    • The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
    • Brown M.D. The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy. J Neurol Sci 165 (1999) 1-5
    • (1999) J Neurol Sci , vol.165 , pp. 1-5
    • Brown, M.D.1
  • 158
    • 0025995774 scopus 로고
    • Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
    • Majander A., Huoponen K., Savontaus M.-L., et al. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 292 (1991) 289-292
    • (1991) FEBS Lett , vol.292 , pp. 289-292
    • Majander, A.1    Huoponen, K.2    Savontaus, M.-L.3
  • 159
    • 0028858473 scopus 로고
    • The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity
    • Cock H.R., Cooper J.M., and Schapira A. The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity. Am J Hum Genet 57 (1995) 1501-1502
    • (1995) Am J Hum Genet , vol.57 , pp. 1501-1502
    • Cock, H.R.1    Cooper, J.M.2    Schapira, A.3
  • 160
    • 0033028388 scopus 로고    scopus 로고
    • Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
    • Carelli V., Ghelli A., Bucchi L., et al. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol 45 (1999) 320-328
    • (1999) Ann Neurol , vol.45 , pp. 320-328
    • Carelli, V.1    Ghelli, A.2    Bucchi, L.3
  • 161
    • 0028349620 scopus 로고
    • Platelet mitochondrial function in Leber's hereditary optic neuropathy
    • Smith P.R., Cooper J.M., Govan G.G., et al. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci 122 (1994) 80-83
    • (1994) J Neurol Sci , vol.122 , pp. 80-83
    • Smith, P.R.1    Cooper, J.M.2    Govan, G.G.3
  • 162
    • 0029118005 scopus 로고
    • MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells
    • Vergani L., Martinuzzi A., Carelli V., et al. MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun 210 (1995) 880-888
    • (1995) Biochem Biophys Res Commun , vol.210 , pp. 880-888
    • Vergani, L.1    Martinuzzi, A.2    Carelli, V.3
  • 163
    • 15844414869 scopus 로고    scopus 로고
    • Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
    • Hofhaus G., Johns D.R., Hurko O., et al. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem 271 (1996) 13155-13161
    • (1996) J Biol Chem , vol.271 , pp. 13155-13161
    • Hofhaus, G.1    Johns, D.R.2    Hurko, O.3
  • 164
    • 0034704125 scopus 로고    scopus 로고
    • Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778 or 14484 Leber's hereditary optic neuropathy
    • Brown M.D., Trounce I.A., Jun A.S., et al. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778 or 14484 Leber's hereditary optic neuropathy. J Biol Chem 275 51 (2000) 39831-39836
    • (2000) J Biol Chem , vol.275 , Issue.51 , pp. 39831-39836
    • Brown, M.D.1    Trounce, I.A.2    Jun, A.S.3
  • 165
    • 0030060823 scopus 로고    scopus 로고
    • Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
    • Jun A.S., Trounce I.A., Brown M.D., et al. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 16 (1996) 771-777
    • (1996) Mol Cell Biol , vol.16 , pp. 771-777
    • Jun, A.S.1    Trounce, I.A.2    Brown, M.D.3
  • 166
    • 0027964504 scopus 로고
    • Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy
    • Degli Esposti M., Carelli V., Ghelli A., et al. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett 352 (1994) 375-379
    • (1994) FEBS Lett , vol.352 , pp. 375-379
    • Degli Esposti, M.1    Carelli, V.2    Ghelli, A.3
  • 167
    • 0032516550 scopus 로고    scopus 로고
    • 368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy
    • 368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy. Biochim Biophys Acta 1407 (1998) 114-124
    • (1998) Biochim Biophys Acta , vol.1407 , pp. 114-124
    • Lunardi, J.1    Darrouzet, E.2    Dupuis, A.3    Issartel, J.-P.4
  • 168
    • 0029953887 scopus 로고    scopus 로고
    • Catalytic activity of Complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy
    • Majander A., Finel M., Savontaus M.-L., et al. Catalytic activity of Complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy. Eur J Biochem 239 (1996) 201-207
    • (1996) Eur J Biochem , vol.239 , pp. 201-207
    • Majander, A.1    Finel, M.2    Savontaus, M.-L.3
  • 169
    • 0030881830 scopus 로고    scopus 로고
    • In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy
    • Lodi R., Taylor D.J., Tabrizi S.J., et al. In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy. Ann Neurol 42 (1997) 573-579
    • (1997) Ann Neurol , vol.42 , pp. 573-579
    • Lodi, R.1    Taylor, D.J.2    Tabrizi, S.J.3
  • 170
    • 0033137096 scopus 로고    scopus 로고
    • Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Cock H.R., Cooper J.M., and Schapira A. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. J Neurol Sci 165 (1999) 10-17
    • (1999) J Neurol Sci , vol.165 , pp. 10-17
    • Cock, H.R.1    Cooper, J.M.2    Schapira, A.3
  • 171
    • 0033522924 scopus 로고    scopus 로고
    • Titrating the effects of mitochondrial complex I impairment in the cell physiology
    • Barrientos A., and Moraes C.T. Titrating the effects of mitochondrial complex I impairment in the cell physiology. J Biol Chem 274 (1999) 16188-16197
    • (1999) J Biol Chem , vol.274 , pp. 16188-16197
    • Barrientos, A.1    Moraes, C.T.2
  • 172
    • 0031561413 scopus 로고    scopus 로고
    • mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A
    • Wong A., and Cortopassi G. mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A. Biochem Biophys Res Commun 239 (1997) 139-145
    • (1997) Biochem Biophys Res Commun , vol.239 , pp. 139-145
    • Wong, A.1    Cortopassi, G.2
  • 173
    • 0031000480 scopus 로고    scopus 로고
    • Increase of manganese superoxide dismutase, but not of Cu/Zn-SOD, in experimental optic neuritis
    • Qi X., Guy J., Nick H., Valentine J., and Rao N. Increase of manganese superoxide dismutase, but not of Cu/Zn-SOD, in experimental optic neuritis. Invest Ohthalmol Vis Sci 38 (1997) 1203-1212
    • (1997) Invest Ohthalmol Vis Sci , vol.38 , pp. 1203-1212
    • Qi, X.1    Guy, J.2    Nick, H.3    Valentine, J.4    Rao, N.5
  • 174
    • 4243617977 scopus 로고    scopus 로고
    • Reactive oxygen species in the pathogenesis of Leber's hereditary optic neuropathy
    • B1025
    • Carelli V., Sadun A.A., Ross-Cisneros F., et al. Reactive oxygen species in the pathogenesis of Leber's hereditary optic neuropathy. Invest Ohthalmol Vis Sci 41 4 (2000) 1650 B1025
    • (2000) Invest Ohthalmol Vis Sci , vol.41 , Issue.4 , pp. 1650
    • Carelli, V.1    Sadun, A.A.2    Ross-Cisneros, F.3
  • 175
    • 0033008908 scopus 로고    scopus 로고
    • Histochemical localization of mitochondrial enzyme activity in human optic nerve and retina
    • Andrews R.M., Griffiths P.G., Johnson M.A., and Turnbull D.M. Histochemical localization of mitochondrial enzyme activity in human optic nerve and retina. Br J Ophthalmol 83 (1999) 231-235
    • (1999) Br J Ophthalmol , vol.83 , pp. 231-235
    • Andrews, R.M.1    Griffiths, P.G.2    Johnson, M.A.3    Turnbull, D.M.4
  • 176
    • 0028826436 scopus 로고
    • Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in human and other mammals
    • Hollander H., Makarov F., Stefani F.H., and Stone J. Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in human and other mammals. Ophthalmic Res 27 (1995) 296-309
    • (1995) Ophthalmic Res , vol.27 , pp. 296-309
    • Hollander, H.1    Makarov, F.2    Stefani, F.H.3    Stone, J.4
  • 177
    • 20244381365 scopus 로고    scopus 로고
    • Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    • Delettre C., Lenaers G., Griffoin J.-M., et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26 (2000) 207-210
    • (2000) Nat Genet , vol.26 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.-M.3
  • 178
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C., Votruba M., Pesch U., et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26 (2000) 211-215
    • (2000) Nat Genet , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.3
  • 179
    • 0030806721 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve
    • Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res 37 (1997) 3495-3507
    • (1997) Vision Res , vol.37 , pp. 3495-3507
    • Howell, N.1
  • 180
    • 0031940986 scopus 로고    scopus 로고
    • A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase
    • Melov S., Schneider J.A., Day B.J., et al. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat Genet 18 (1998) 159-163
    • (1998) Nat Genet , vol.18 , pp. 159-163
    • Melov, S.1    Schneider, J.A.2    Day, B.J.3
  • 181
    • 0033609069 scopus 로고    scopus 로고
    • Mitochondrial disease in mouse results in increased oxidative stress
    • Esposito L.A., Melov S., Panov A., et al. Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci U S A 96 (1999) 4820-4825
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 4820-4825
    • Esposito, L.A.1    Melov, S.2    Panov, A.3
  • 182
    • 0028889831 scopus 로고
    • Oligodendroglial precursor cell susceptibility to hypoxia is related to poor ability to cope with reactive oxygen species
    • Husain J., and Juurlink B.H.J. Oligodendroglial precursor cell susceptibility to hypoxia is related to poor ability to cope with reactive oxygen species. Brain Res 698 (1995) 86-94
    • (1995) Brain Res , vol.698 , pp. 86-94
    • Husain, J.1    Juurlink, B.H.J.2
  • 183
    • 0033862962 scopus 로고    scopus 로고
    • The epidemiology of pathogenic mitochondrial DNA mutations
    • Chinnery P.F., Johnson M.A., Wardell T.M., et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48 (2000) 188-193
    • (2000) Ann Neurol , vol.48 , pp. 188-193
    • Chinnery, P.F.1    Johnson, M.A.2    Wardell, T.M.3
  • 184
    • 0026717291 scopus 로고
    • Remission of Leber's hereditary optic neuropathy with idebenone
    • Mashima Y., Hiida Y., and Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 340 (1992) 368-369
    • (1992) Lancet , vol.340 , pp. 368-369
    • Mashima, Y.1    Hiida, Y.2    Oguchi, Y.3
  • 185
    • 0003048093 scopus 로고    scopus 로고
    • Idebenone therapy in Leber's hereditary optic neuropathy: report of six cases
    • Carelli V., Ghelli A., Cevoli S., et al. Idebenone therapy in Leber's hereditary optic neuropathy: report of six cases. Neurology 50 (1998) A4
    • (1998) Neurology , vol.50
    • Carelli, V.1    Ghelli, A.2    Cevoli, S.3
  • 186
    • 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., and Oguchi Y. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?. J Neuroophthalmol 20 (2000) 166-170
    • (2000) J Neuroophthalmol , vol.20 , pp. 166-170
    • Mashima, Y.1    Kigasawa, K.2    Wakakura, M.3    Oguchi, Y.4


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