-
1
-
-
0000753933
-
Ein ungewöhnlicher Fall von hereditäre Amaurose
-
von Graefe A. Ein ungewöhnlicher Fall von hereditäre Amaurose. Graefes Arch Ophthalmol 1858;4:266-8.
-
(1858)
Graefes Arch Ophthalmol
, vol.4
, pp. 266-268
-
-
Von Graefe, A.1
-
2
-
-
34447600937
-
Ueber hereditäre und congenital-angelegte Sehner-venleiden
-
Leber T. Ueber hereditäre und congenital-angelegte Sehner-venleiden. Graefes Arch Ophthalmol 1871;17:249-91.
-
(1871)
Graefes Arch Ophthalmol
, vol.17
, pp. 249-291
-
-
Leber, T.1
-
3
-
-
0344367753
-
A probable case of cytoplasmic inheritance in man. A critique of Leber's disease
-
Imai Y, Moriwaki D. A probable case of cytoplasmic inheritance in man. A critique of Leber's disease. J Genet Hum 1936;3:163-7.
-
(1936)
J Genet Hum
, vol.3
, pp. 163-167
-
-
Imai, Y.1
Moriwaki, D.2
-
4
-
-
0015333611
-
Leber's optic atrophy: A possible example of mitochondrial inheritance
-
Erikson RP. Leber's optic atrophy: a possible example of mitochondrial inheritance. Am J Hum Genet 1972;24: 348-9.
-
(1972)
Am J Hum Genet
, vol.24
, pp. 348-349
-
-
Erikson, R.P.1
-
5
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, et al Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
6
-
-
0024382854
-
A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy
-
Singh G, Lott MT, Wallace DC. A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med 1989;320:1300-5.
-
(1989)
N Engl J Med
, vol.320
, pp. 1300-1305
-
-
Singh, G.1
Lott, M.T.2
Wallace, D.C.3
-
7
-
-
0028349620
-
Platelet mitochondrial function in Leber's hereditary optic neuropathy
-
Smith PR, Cooper JM, Govan GG, Harding AE, Schapira AHV. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci 1994;122:6-14.
-
(1994)
J Neurol Sci
, vol.122
, pp. 6-14
-
-
Smith, P.R.1
Cooper, J.M.2
Govan, G.G.3
Harding, A.E.4
Schapira, A.H.V.5
-
8
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991; 48:1147 53.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 114753
-
-
Huoponen, K.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.K.4
Savontaus, M.L.5
-
9
-
-
0025944560
-
Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees
-
Howell N, Bindoff LA, McCullough DA, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991;49:939-50.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 939-950
-
-
Howell, N.1
Bindoff, L.A.2
McCullough, D.A.3
-
10
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992;187:1551-7.
-
(1992)
Biochem Biophys Res Commun
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
11
-
-
0025897119
-
Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
-
Howell N, Kubacka I, Xu M, McCullough DA. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 1991;48:935 42.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 93542
-
-
Howell, N.1
Kubacka, I.2
Xu, M.3
McCullough, D.A.4
-
12
-
-
0038978279
-
Multiple mitochrondrial DNA mutations associated with Leber's hereditary optic neuropathy
-
Wallace DC, Brown MD, Lott MT, Voljavec AS, Torroni A, Yang CC. Multiple mitochrondrial DNA mutations associated with Leber's hereditary optic neuropathy. Cytogenet Celt Genet 1991;58:2121.
-
(1991)
Cytogenet Celt Genet
, vol.58
, pp. 2121
-
-
Wallace, D.C.1
Brown, M.D.2
Lott, M.T.3
Voljavec, A.S.4
Torroni, A.5
Yang, C.C.6
-
13
-
-
0027180961
-
Leber's hereditary optic neuropathy. New genetic considerarions
-
Newman NJ. Leber's hereditary optic neuropathy. New genetic considerarions. Arch Neurol 1993;50:540-8.
-
(1993)
Arch Neurol
, vol.50
, pp. 540-548
-
-
Newman, N.J.1
-
14
-
-
0027977998
-
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
-
Mackey DA. Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye 1994;8:431-6.
-
(1994)
Eye
, vol.8
, pp. 431-436
-
-
Mackey, D.A.1
-
15
-
-
0027380091
-
When does bilateral optic atrophy become Leber hereditary optic neuropathy?
-
193
-
Howell N, Halvorson S, Burns J, McCullough DA, Poulton J. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet 193;53:959-63.
-
Am J Hum Genet
, vol.53
, pp. 959-963
-
-
Howell, N.1
Halvorson, S.2
Burns, J.3
McCullough, D.A.4
Poulton, J.5
-
16
-
-
0026036025
-
Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
-
Johns DR, Berman J. Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 1991;174:1324-30.
-
(1991)
Biochem Biophys Res Commun
, vol.174
, pp. 1324-1330
-
-
Johns, D.R.1
Berman, J.2
-
17
-
-
0027425369
-
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1993;196:810-15.
-
(1993)
Biochem Biophys Res Commun
, vol.196
, pp. 810-815
-
-
Johns, D.R.1
Neufeld, M.J.2
-
18
-
-
0027360029
-
The spectrum of mitochondrial DNA mutations in families with lieber hereditary optic neuroretinopathy
-
Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML. The spectrum of mitochondrial DNA mutations in families with lieber hereditary optic neuroretinopathy. Hum Genet 1993;92: 379-84.
-
(1993)
Hum Genet
, vol.92
, pp. 379-384
-
-
Huoponen, K.1
Lamminen, T.2
Juvonen, V.3
Aula, P.4
Nikoskelainen, E.5
Savontaus, M.L.6
-
19
-
-
0026753354
-
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
-
Brown MD, Yang CC, Trounce I, Torroni A, Lott MT, Wallace DC. 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 1992;51:378-85.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 378-385
-
-
Brown, M.D.1
Yang, C.C.2
Trounce, I.3
Torroni, A.4
Lott, M.T.5
Wallace, D.C.6
-
20
-
-
0026337654
-
Cytochrome b mutations in Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1991;181:1358-64.
-
(1991)
Biochem Biophys Res Commun
, vol.181
, pp. 1358-1364
-
-
Johns, D.R.1
Neufeld, M.J.2
-
21
-
-
0026729835
-
Mitochondrial genetics: Principles and practice
-
Shoffner JM, Wallace DC. Mitochondrial genetics: principles and practice. Am J Hum Genet 1992;51:1179-86.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1179-1186
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
22
-
-
0027502505
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
-
Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111:495-8.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 495-498
-
-
Johns, D.R.1
Heher, K.L.2
Miller, N.R.3
Smith, K.H.4
-
23
-
-
0027978132
-
Leber's hereditary optic neuropathy: No significant evidence for primary or secondary pathogenicity of the 15257 mutation
-
Oostra RJ, Bolhuis PA, Zorn-Ende I, de Kok-Nazaruk MM, Bleeker-Wagemakers EM. Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet 1994; 94:265-70.
-
(1994)
Hum Genet
, vol.94
, pp. 265-270
-
-
Oostra, R.J.1
Bolhuis, P.A.2
Zorn-Ende, I.3
De Kok-Nazaruk, M.M.4
Bleeker-Wagemakers, E.M.5
-
24
-
-
0027195652
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation
-
Johns DR, Smith KH, Savino J, Miller NR. Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. Ophthalmology 1993;100:981-6.
-
(1993)
Ophthalmology
, vol.100
, pp. 981-986
-
-
Johns, D.R.1
Smith, K.H.2
Savino, J.3
Miller, N.R.4
-
25
-
-
0027493448
-
A maculopathy associated with the 15257 mitochondrial DNA mutation
-
Heher KL, Johns DR. A maculopathy associated with the 15257 mitochondrial DNA mutation. Arch Ophthalmol 1993;111:1495-9.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1495-1499
-
-
Heher, K.L.1
Johns, D.R.2
-
26
-
-
0028337837
-
Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
-
Kellar-Wood H, Robertson N, Govan GG, Compston DAS, Harding AE. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 1994;36:109-12.
-
(1994)
Ann Neurol
, vol.36
, pp. 109-112
-
-
Kellar-Wood, H.1
Robertson, N.2
Govan, G.G.3
Compston, D.A.S.4
Harding, A.E.5
-
27
-
-
0027964745
-
Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy
-
Brown MD, Torroni A, Huoponen K, Chen YS, Lott MT, Wallace DC. Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. Am J Hum Genet 1994;55:410.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 410
-
-
Brown, M.D.1
Torroni, A.2
Huoponen, K.3
Chen, Y.S.4
Lott, M.T.5
Wallace, D.C.6
-
28
-
-
85058588467
-
Reply to Brown et al
-
Johns DR. Reply to Brown et al. Am J Hum Genet 1994;55: 410-12.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 410-412
-
-
Johns, D.R.1
-
29
-
-
0026034238
-
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7
-
Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 1991;48:486-91.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 486-491
-
-
Vilkki, J.1
Ott, J.2
Savontaus, M.L.3
Aula, P.4
Nikoskelainen, E.K.5
-
30
-
-
0026693837
-
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy
-
Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding AE. Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am J Hum Genet 1992;51:741-8.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 741-748
-
-
Sweeney, M.G.1
Davis, M.B.2
Lashwood, A.3
Brockington, M.4
Toscano, A.5
Harding, A.E.6
-
31
-
-
0027483762
-
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
-
Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus ML. Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON). AmJ Hum Genet 1993;53:289-92.
-
(1993)
AmJ Hum Genet
, vol.53
, pp. 289-292
-
-
Juvonen, V.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.4
Savontaus, M.L.5
-
32
-
-
0027376236
-
Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON)
-
Johns DR, Neufeld MJ. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). Am J Hum Genet 1993;53:916-20.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 916-920
-
-
Johns, D.R.1
Neufeld, M.J.2
-
33
-
-
0025881563
-
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
-
Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111:750-62.
-
(1991)
Am J Ophthalmol
, vol.111
, pp. 750-762
-
-
Newman, N.J.1
Lott, M.T.2
Wallace, D.C.3
-
34
-
-
0026554382
-
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
-
Stone EM, Newman NJ, Miller NJ, Johns DR, Lott MT, Wallace DC. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuro-Ophthalmol 1992;12:10-14.
-
(1992)
J Clin Neuro-Ophthalmol
, vol.12
, pp. 10-14
-
-
Stone, E.M.1
Newman, N.J.2
Miller, N.J.3
Johns, D.R.4
Lott, M.T.5
Wallace, D.C.6
-
35
-
-
0026495869
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
-
Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 1992;110:1577-81.
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1577-1581
-
-
Johns, D.R.1
Smith, K.H.2
Miller, N.R.3
-
36
-
-
0026746739
-
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
-
Mackey D, 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 1992;51:1218-28.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1218-1228
-
-
Mackey, D.1
Howell, N.2
-
37
-
-
0028221662
-
Leber's hereditary optic neuropathy: Correlations between mitochondrial genotype and visual outcome
-
Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1994;31:280-6.
-
(1994)
J Med Genet
, vol.31
, pp. 280-286
-
-
Oostra, R.J.1
Bolhuis, P.A.2
Wijburg, F.A.3
Zorn-Ende, G.4
Bleeker-Wagemakers, E.M.5
-
39
-
-
0020602931
-
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. The fundus findings in affected family members
-
Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. The fundus findings in affected family members. Arch Ophthalmol 1983;101:1059-68.
-
(1983)
Arch Ophthalmol
, vol.101
, pp. 1059-1068
-
-
Nikoskelainen, E.1
Hoyt, W.F.2
Nummelin, K.3
-
40
-
-
0021255222
-
Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies
-
Nikoskelainen E, Hoyt WF, Nummelin K, Schatz H. Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies. Arch Ophihalmol 1984; 102:981-9.
-
(1984)
Arch Ophihalmol
, vol.102
, pp. 981-989
-
-
Nikoskelainen, E.1
Hoyt, W.F.2
Nummelin, K.3
Schatz, H.4
-
41
-
-
0001786616
-
Leber's hereditary optic atrophy: Some clinical and aetiological considerations
-
Wilson J. Leber's hereditary optic atrophy: some clinical and aetiological considerations. Brain 1963;86:347-62.
-
(1963)
Brain
, vol.86
, pp. 347-362
-
-
Wilson, J.1
-
42
-
-
0013887061
-
Further clinical and pathological observations on Leber's optic atrophy
-
Adams JH, Blackwood W, Wilson J. Further clinical and pathological observations on Leber's optic atrophy. Brain 1966;89:15-26.
-
(1966)
Brain
, vol.89
, pp. 15-26
-
-
Adams, J.H.1
Blackwood, W.2
Wilson, J.3
-
43
-
-
84889523706
-
Über 50 himchirurgisch behandelte Fälle von Leberscher Opticusatrophie
-
Imachi J. Über 50 himchirurgisch behandelte Fälle von Leberscher Opticusatrophie. Ber Deutsche Ophthalmologische Gesellschaft 1961;64:268-71.
-
(1961)
Ber Deutsche Ophthalmologische Gesellschaft
, vol.64
, pp. 268-271
-
-
Imachi, J.1
-
44
-
-
0027319729
-
Arypical Leber's hereditary optic neuropathy with molecular confirmation
-
Weinder NC, Newman NJ, Lessell S, Johns DR, Lort MT, Wallace DC. Arypical Leber's hereditary optic neuropathy with molecular confirmation. Arch Neurol 1993;50:470-3.
-
(1993)
Arch Neurol
, vol.50
, pp. 470-473
-
-
Weinder, N.C.1
Newman, N.J.2
Lessell, S.3
Johns, D.R.4
Lort, M.T.5
Wallace, D.C.6
-
45
-
-
0024309441
-
Magnetic resonance imaging in Leber's optic neuropathy
-
Kermode AG, Moseley IF, Kendall BE, Miller DH, Mac-Manus DG, McDonald WI. Magnetic resonance imaging in Leber's optic neuropathy. J Neurol Neurosurg Psychiatry 1989;52:671-4.
-
(1989)
J Neurol Neurosurg Psychiatry
, vol.52
, pp. 671-674
-
-
Kermode, A.G.1
Moseley, I.F.2
Kendall, B.E.3
Miller, D.H.4
Mac-Manus, D.G.5
McDonald, W.I.6
-
46
-
-
0015212426
-
Plasma-cobalamins in neuro-ophthalmological diseases
-
Wilson J, Linnell JC, Matthews DM. Plasma-cobalamins in neuro-ophthalmological diseases. Lancet 1971;i:259-61.
-
(1971)
Lancet
, vol.1
, pp. 259-261
-
-
Wilson, J.1
Linnell, J.C.2
Matthews, D.M.3
-
47
-
-
0013829899
-
Leber's hereditary optic atrophy: A possible defect of cyanide metabolism
-
Wilson J. Leber's hereditary optic atrophy: a possible defect of cyanide metabolism. Clin Sci 1965;29:505-15.
-
(1965)
Clin Sci
, vol.29
, pp. 505-515
-
-
Wilson, J.1
-
48
-
-
0021685747
-
Leber's hereditary optic neuroretinopathy, a mitochondrial disease?
-
Nikoskelainen EK, Hassinen IE, Paljarvi L, Lang H, Kalimo H. Leber's hereditary optic neuroretinopathy, a mitochondrial disease? Lancet 1984;ii;1474.
-
(1984)
Lancet
, vol.2
, pp. 1474
-
-
Nikoskelainen, E.K.1
Hassinen, I.E.2
Paljarvi, L.3
Lang, H.4
Kalimo, H.5
-
49
-
-
0022625001
-
Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy
-
Poole CJM, Kind PRN. Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy. BMJ 1986;292:1229-30.
-
(1986)
BMJ
, vol.292
, pp. 1229-1230
-
-
Poole, C.J.M.1
Kind, P.R.N.2
-
50
-
-
0024400389
-
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy
-
Parker WD Jr, Oley CA, Parks JK. A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. N Engl J Med 1989;320:1331-3.
-
(1989)
N Engl J Med
, vol.320
, pp. 1331-1333
-
-
Parker Jr., W.D.1
Oley, C.A.2
Parks, J.K.3
-
51
-
-
85088327322
-
Familial Leber's hereditary optic neuropathy: Morphology, biochemistry and genetics in blood and skeletal muscle
-
Toscano A, Harding AE, Castagna I, et al Familial Leber's hereditary optic neuropathy: morphology, biochemistry and genetics in blood and skeletal muscle. J Neurol Sci 1990;98(suppl):366.
-
(1990)
J Neurol Sci
, vol.98
, Issue.SUPPL.
, pp. 366
-
-
Toscano, A.1
Harding, A.E.2
Castagna, I.3
-
52
-
-
0025936841
-
Leber's hereditary optic neuropathy and complex I deficiency in muscle
-
Larsson NG, Anderson O, Holme E, Oldfors A, Wahlstrom J. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991;30:701-8.
-
(1991)
Ann Neurol
, vol.30
, pp. 701-708
-
-
Larsson, N.G.1
Anderson, O.2
Holme, E.3
Oldfors, A.4
Wahlstrom, J.5
-
53
-
-
0027520465
-
Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
-
Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 1993;111: 1482-5.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1482-1485
-
-
Cullom, M.E.1
Heher, K.L.2
Miller, N.R.3
Savino, P.J.4
Johns, D.R.5
-
55
-
-
0025083138
-
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy
-
Bolhuis PA, Bleeker-Wagemakers EM, Ponne NJ, et al. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 1990;170:994-7.
-
(1990)
Biochem Biophys Res Commun
, vol.170
, pp. 994-997
-
-
Bolhuis, P.A.1
Bleeker-Wagemakers, E.M.2
Ponne, N.J.3
-
56
-
-
0025336365
-
Variable genotype of Leber's hereditary optic neuropathy patients
-
Lott MT, Voljavec AS, Wallace DC. Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1990;109:625-31.
-
(1990)
Am J Ophthalmol
, vol.109
, pp. 625-631
-
-
Lott, M.T.1
Voljavec, A.S.2
Wallace, D.C.3
-
57
-
-
0024306492
-
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy
-
Holt IJ, Miller DH, Harding AE. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet 1989;26:739-43.
-
(1989)
J Med Genet
, vol.26
, pp. 739-743
-
-
Holt, I.J.1
Miller, D.H.2
Harding, A.E.3
-
58
-
-
0025998857
-
Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy
-
Isashiki Y, Nakagawa M. Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy. Jpn J Ophthalmol 1991;35:259-67.
-
(1991)
Jpn J Ophthalmol
, vol.35
, pp. 259-267
-
-
Isashiki, Y.1
Nakagawa, M.2
-
59
-
-
0028100561
-
A heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation
-
Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 1994;55:203-6.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 203-206
-
-
Howell, N.1
Xu, M.2
Halvorson, S.3
Bodis-Wollner, I.4
Sherman, J.5
-
61
-
-
0018130271
-
Charcot-Marie-Tooth disease with Leber optic atrophy
-
McLeod JG, Low PA, Morgan JA. Charcot-Marie-Tooth disease with Leber optic atrophy. Neurology 1978;28:179-84.
-
(1978)
Neurology
, vol.28
, pp. 179-184
-
-
McLeod, J.G.1
Low, P.A.2
Morgan, J.A.3
-
62
-
-
0022626689
-
Familial dystonia and visual failure with striatal CT lucencies
-
Marsden CD, Lang AE, Quinn NP, McDonald WI, Abdallat A. Nimri S. Familial dystonia and visual failure with striatal CT lucencies. J Neurol Neurosurg Psychiatry 1986; 49:500-9.
-
(1986)
J Neurol Neurosurg Psychiatry
, vol.49
, pp. 500-509
-
-
Marsden, C.D.1
Lang, A.E.2
Quinn, N.P.3
McDonald, W.I.4
Abdallat, A.5
Nimri, S.6
-
63
-
-
0026782507
-
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. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992;115:979-89.
-
(1992)
Brain
, vol.115
, pp. 979-989
-
-
Harding, A.E.1
Sweeney, M.G.2
Miller, D.H.3
-
64
-
-
0027731794
-
Association of the 11778 mitochondrial DNA mutation and demyelinating disease
-
Flanigan KM, Johns DR. Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 1993;43:2720-2.
-
(1993)
Neurology
, vol.43
, pp. 2720-2722
-
-
Flanigan, K.M.1
Johns, D.R.2
-
65
-
-
0000754075
-
Leber's hereditary optic neuropathy
-
Schapira AHV, DiMauro S, eds. London: Butterworth Heinemann
-
Harding SE, Sweeney MG. Leber's hereditary optic neuropathy. In: Schapira AHV, DiMauro S, eds. Mitochondrial disorders in neurology. London: Butterworth Heinemann, 1994.
-
(1994)
Mitochondrial Disorders in Neurology
-
-
Harding, S.E.1
Sweeney, M.G.2
-
66
-
-
0014706751
-
A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance
-
Wallace DC. A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain 1970;93:121-32.
-
(1970)
Brain
, vol.93
, pp. 121-132
-
-
Wallace, D.C.1
-
67
-
-
0025905698
-
Mitochondrial encephalopathies: Molecular genetic diagnosis from blood samples
-
Hammans SR, Sweeney MG, Brockington M. Morgan-Hughes JA, Harding AE. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991;337:1311-13.
-
(1991)
Lancet
, vol.337
, pp. 1311-1313
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Morgan-Hughes, J.A.4
Harding, A.E.5
-
68
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994;91:6206-10.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
69
-
-
0021913432
-
Pre-excitation syndrome and Leber's hereditary optic neuropathy
-
Nikoskelainen E, Wanne O, Dahl M. Pre-excitation syndrome and Leber's hereditary optic neuropathy. Lancet 1985;i:696.
-
(1985)
Lancet
, vol.1
, pp. 696
-
-
Nikoskelainen, E.1
Wanne, O.2
Dahl, M.3
-
70
-
-
0026729681
-
Optic disk cupping and electrocardiograpic abnormalities in an American pedigree with Leber's hereditary optic neuropathy
-
Ortiz RG, Newman NJ, Manoukian SV, Diesenhouse MC, Lott MT, Wallace DC. Optic disk cupping and electrocardiograpic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. Am J Ophthalmol 1992;113:561-6.
-
(1992)
Am J Ophthalmol
, vol.113
, pp. 561-566
-
-
Ortiz, R.G.1
Newman, N.J.2
Manoukian, S.V.3
Diesenhouse, M.C.4
Lott, M.T.5
Wallace, D.C.6
|