-
1
-
-
0026702249
-
Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative diseases
-
Brown MD, Voljavec AS, Lott MT, et al. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J 1992;6:2791-2799.
-
(1992)
FASEB J
, vol.6
, pp. 2791-2799
-
-
Brown, M.D.1
Voljavec, A.S.2
Lott, M.T.3
-
2
-
-
0027180961
-
Leber's hereditary optic neuropathy. New genetic considerations
-
Newman NJ. Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol 1993;50:540-548.
-
(1993)
Arch Neurol
, vol.50
, pp. 540-548
-
-
Newman, N.J.1
-
3
-
-
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;196:810-815.
-
(1993)
Biochem Biophys Res Commun
, vol.196
, pp. 810-815
-
-
Johns, D.R.1
Neufeld, M.J.2
-
4
-
-
0001353580
-
Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy
-
Brown MD, Wallace DC. Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Clin Neurosci 1994;2:138-145.
-
(1994)
Clin Neurosci
, vol.2
, pp. 138-145
-
-
Brown, M.D.1
Wallace, D.C.2
-
5
-
-
0028342847
-
A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC. 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 USA 1994;91:6206-6210.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
6
-
-
0028908634
-
A mitochondrial mutation at 9101 in the ATP synthase 6 gene associated with deficiency oxidative phosphorylation in a family withLeber hereditary optic neuroretinopathy
-
Lamminen T, Majander A, Juvonen V, et al. A mitochondrial mutation at 9101 in the ATP synthase 6 gene associated with deficiency oxidative phosphorylation in a family withLeber hereditary optic neuroretinopathy. Am J Hum Genet 1995;56:1238-1240.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1238-1240
-
-
Lamminen, T.1
Majander, A.2
Juvonen, V.3
-
7
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
De Vries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996;58:703-711.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 703-711
-
-
De Vries, D.D.1
Went, L.N.2
Bruyn, G.W.3
-
8
-
-
0031578236
-
Mutation analysis of the ND6 gene in patients with Leber hereditary optic neuropathy
-
Wissinger B, Besch D, Baumann B, et al. Mutation analysis of the ND6 gene in patients with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1997;234:511-515.
-
(1997)
Biochem Biophys Res Commun
, vol.234
, pp. 511-515
-
-
Wissinger, B.1
Besch, D.2
Baumann, B.3
-
9
-
-
0000869712
-
Primary LHON mutations: Trying to separate 'fruyt' from 'chaf'
-
Howell N. Primary LHON mutations: trying to separate 'fruyt' from 'chaf'. Clin Neurosci 1994;2:130-137.
-
(1994)
Clin Neurosci
, vol.2
, pp. 130-137
-
-
Howell, N.1
-
10
-
-
0028788493
-
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations
-
Brown MD, Torroni A, Reckord CL, et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations. Hum Mutat 1995;6:311-325.
-
(1995)
Hum Mutat
, vol.6
, pp. 311-325
-
-
Brown, M.D.1
Torroni, A.2
Reckord, C.L.3
-
11
-
-
0028928397
-
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees
-
Howell N, Kubacka I, Halvorson S, et al. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995;140:285-302.
-
(1995)
Genetics
, vol.140
, pp. 285-302
-
-
Howell, N.1
Kubacka, I.2
Halvorson, S.3
-
12
-
-
0029816017
-
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber's hereditary optic neuropathy
-
Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber's hereditary optic neuropathy. Am J Hum Genet 1996;59:481-485.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 481-485
-
-
Mackey, D.A.1
Oostra, R.J.2
Rosenberg, T.3
-
13
-
-
0028221662
-
Leber's hereditary optic neuropathy: Correlations between mitochondrial genotype and visual outcome
-
Oostra RJ, Bolhuis PA, Wijburg FA, et al. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1994;31:280-286.
-
(1994)
J Med Genet
, vol.31
, pp. 280-286
-
-
Oostra, R.J.1
Bolhuis, P.A.2
Wijburg, F.A.3
-
14
-
-
0028509670
-
The mitochondrial DNA mutation at position 11778 in Chinese families with Leber's hereditary optic neuropathy
-
Zhang L, Huang Y, Li F, et al. The mitochondrial DNA mutation at position 11778 in Chinese families with Leber's hereditary optic neuropathy. Yen Ko Hsueh Pao (China) Eye Sci 1994;10:151-156.
-
(1994)
Yen Ko Hsueh Pao (China) Eye Sci
, vol.10
, pp. 151-156
-
-
Zhang, L.1
Huang, Y.2
Li, F.3
-
15
-
-
0028949749
-
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
-
Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319-337.
-
(1995)
Brain
, vol.118
, pp. 319-337
-
-
Riordan-Eva, P.1
Sanders, M.D.2
Govan, G.G.3
-
16
-
-
0029883737
-
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
-
Nikoskelainen EK, Huoponen K, Juvonen V, et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996;103:504-514.
-
(1996)
Ophthalmology
, vol.103
, pp. 504-514
-
-
Nikoskelainen, E.K.1
Huoponen, K.2
Juvonen, V.3
-
17
-
-
0031965731
-
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
-
Mashima Y, Yamada K, Wakakura M, et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 1998;17:403-408.
-
(1998)
Curr Eye Res
, vol.17
, pp. 403-408
-
-
Mashima, Y.1
Yamada, K.2
Wakakura, M.3
-
18
-
-
0027502505
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
-
Johns DR, Heher KL, Miller NR, et al. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111:495-498.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 495-498
-
-
Johns, D.R.1
Heher, K.L.2
Miller, N.R.3
-
19
-
-
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;110:1577-1581.
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1577-1581
-
-
Johns, D.R.1
Smith, K.H.2
Miller, N.R.3
-
20
-
-
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;111:750-762.
-
(1991)
Am J Ophthalmol
, vol.111
, pp. 750-762
-
-
Newman, N.J.1
Lott, M.T.2
Wallace, D.C.3
-
21
-
-
0028944623
-
Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA
-
Hotta Y, Fujuki K, Hayakawa M, et al. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol 1995;39:96-108.
-
(1995)
Jpn J Ophthalmol
, vol.39
, pp. 96-108
-
-
Hotta, Y.1
Fujuki, K.2
Hayakawa, M.3
-
22
-
-
0031034482
-
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
-
Brown MD, Sun F, Wallace DC. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997;60:381-387.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 381-387
-
-
Brown, M.D.1
Sun, F.2
Wallace, D.C.3
-
23
-
-
16944363113
-
Haplotype and phylogenic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, D'Urbano L, et al. Haplotype and phylogenic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of primary mutations 11778 and 14484. Am J Hum Genet 1997;60:1107-1121.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
-
24
-
-
0031910216
-
Bilateral optic neuropathy with mitochondrial DNA 9804 mutation detected by non-isotopic single-strand conformational polymorphism
-
Wakakura M, Hayashi E, Toyo-oka Y, et al. Bilateral optic neuropathy with mitochondrial DNA 9804 mutation detected by non-isotopic single-strand conformational polymorphism. Neuro-ophthalmology 1998;19:7-12.
-
(1998)
Neuro-Ophthalmology
, vol.19
, pp. 7-12
-
-
Wakakura, M.1
Hayashi, E.2
Toyo-oka, Y.3
-
25
-
-
0030806721
-
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. Vis Res 1997;37:3495-3507.
-
(1997)
Vis Res
, vol.37
, pp. 3495-3507
-
-
Howell, N.1
|