-
1
-
-
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, Wallace DC. 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
Wallace, D.C.4
-
2
-
-
16944363113
-
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 primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, Durbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. 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 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
Durbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
Leuzzi, V.8
Carelli, V.9
Barboni, P.10
De Negri, A.11
Scozzari, R.12
-
3
-
-
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
-
4
-
-
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
-
5
-
-
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
-
6
-
-
0029816017
-
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
-
Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S, Bleeker-Wagemakers EM, Savontaus ML, Chan C, Howell N. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber 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
Nikoskelainen, E.4
Bronte-Stewart, J.5
Poulton, J.6
Harding, A.E.7
Govan, G.8
Bolhuis, P.A.9
Norby, S.10
Bleeker-Wagemakers, E.M.11
Savontaus, M.L.12
Chan, C.13
Howell, N.14
-
7
-
-
0029883737
-
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
-
Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996;103:504-514.
-
(1996)
Ophthalmology
, vol.103
, pp. 504-514
-
-
Nikoskelainen, E.K.1
Huoponen, K.2
Juvonen, V.3
Lamminen, T.4
Nummelin, K.5
Savontaus, M.L.6
-
8
-
-
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;31:280-286.
-
(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
-
9
-
-
0029118005
-
MtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells
-
Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schieevano G, Carrozzo R, Angelini C, Lugaresi E. MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun 1995;210:880-888.
-
(1995)
Biochem Biophys Res Commun
, vol.210
, pp. 880-888
-
-
Vergani, L.1
Martinuzzi, A.2
Carelli, V.3
Cortelli, P.4
Montagna, P.5
Schieevano, G.6
Carrozzo, R.7
Angelini, C.8
Lugaresi, E.9
-
10
-
-
0031650311
-
Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11778
-
Matsumoto M, Hayasaka S, Hotta Y, Fujiki K, Fujimaki T, Takeda M, Ishida N, Endoh S, Kanai A. Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11778. J Hum Genet 1998;43:242-245.
-
(1998)
J Hum Genet
, vol.43
, pp. 242-245
-
-
Matsumoto, M.1
Hayasaka, S.2
Hotta, Y.3
Fujiki, K.4
Fujimaki, T.5
Takeda, M.6
Ishida, N.7
Endoh, S.8
Kanai, A.9
-
11
-
-
0028944623
-
Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA
-
Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, Hiida Y, Shinoda K, Yamada K, Oguchi Y, Ishida M, Yamashima K, Wakakura M, Ishikawa S, Nakamura M, Sakai J, Yamamoto M, Hayashi T, Mitani I, Miyazaki S, Shimooku M, Imachi J, Kuniyoshi N, Nagataki S, Isashiki Y, Ohba N. 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
Fujiki, K.2
Hayakawa, M.3
Nakajima, A.4
Kanai, A.5
Mashima, Y.6
Hiida, Y.7
Shinoda, K.8
Yamada, K.9
Oguchi, Y.10
Ishida, M.11
Yamashima, K.12
Wakakura, M.13
Ishikawa, S.14
Nakamura, M.15
Sakai, J.16
Yamamoto, M.17
Hayashi, T.18
Mitani, I.19
Miyazaki, S.20
Shimooku, M.21
Imachi, J.22
Kuniyoshi, N.23
Nagataki, S.24
Isashiki, Y.25
Ohba, N.26
more..
-
12
-
-
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;174:1324-1330.
-
(1991)
Biochem Biophys Res Commun
, vol.174
, pp. 1324-1330
-
-
Johns, D.R.1
Berman, J.2
-
13
-
-
0026753354
-
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 DCA. 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: 378-385.
-
(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.A.6
-
14
-
-
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
-
15
-
-
0027978822
-
Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients
-
Newman NJ. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1994;118: 158-168.
-
(1994)
Am J Ophthalmol
, vol.118
, pp. 158-168
-
-
Newman, N.J.1
-
16
-
-
0026702249
-
Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative diseases
-
Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC. 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
MacDonald, I.4
Wallace, D.C.5
-
17
-
-
0026531040
-
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
-
Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 1992;130:163-173.
-
(1992)
Genetics
, vol.130
, pp. 163-173
-
-
Brown, M.D.1
Voljavec, A.S.2
Lott, M.T.3
Torroni, A.4
Yang, C.C.5
Wallace, D.C.6
-
18
-
-
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, Kigasawa K, Kudoh J, Shimizu N, Oguchi Y. 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
Kigasawa, K.4
Kudoh, J.5
Shimizu, N.6
Oguchi, Y.7
-
19
-
-
0026549067
-
Identification of two genes of Rhodobacter capsulatus coding for proteins homologous to the ND1 and 23kDa subunits of the mitochondrial Complex I
-
Dupuis A. Identification of two genes of Rhodobacter capsulatus coding for proteins homologous to the ND1 and 23kDa subunits of the mitochondrial Complex I. FEBS Lett 1992;301:215-218.
-
(1992)
FEBS Lett
, vol.301
, pp. 215-218
-
-
Dupuis, A.1
|