Index | PMID | Date | Reference |
---|---|---|---|
1 | 3201231 | 1988 | Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J., Nikoskelainen, E.K. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science . 242 (4884): 1427-1430 . |
2 | 2566021 | 1989 | Yoneda, M., Tsuji, S., Yamauchi, T., Inuzuka, T., Miyatake, T., Horai, S., Ozawa, T. (1989) Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy Lancet . 1 (8646): 1076-1077 . |
3 | 2566116 | 1989 | Singh, G., Lott, M.T., Wallace, D.C. (1989) A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy New England Journal of Medicine . 320 (20): 1300-1305 . |
4 | 2575667 | 1989 | Holt, I.J., Miller, D.H., Harding, A.E. (1989) Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy Journal of Medical Genetics . 26 (12): 739-743 . |
5 | 2757028 | 1989 | Vilkki, J., Savontaus, M.L., Nikoskelainen, E.K. (1989) Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism American Journal of Human Genetics . 45 (2): 206-211 . |
6 | 2817063 | 1989 | Hotta, Y., Hayakawa, M., Saito, K., Kanai, A., Nakajima, A., Fujiki, K. (1989) Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification American Journal of Ophthalmology . 108 (5): 601-602 . |
7 | 1977373 | 1990 | Stone, E.M., Coppinger, J.M., Kardon, R.H., Donelson, J. (1990) Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy Archives of Ophthalmology . 108 (10): 1417-1420 . |
8 | 2222273 | 1990 | Johns, D. R. (1990) The molecular genetics of Leber's hereditary optic neuropathy Archives of Ophthalmology . 108 (10): 1405-1407 . |
9 | 2286378 | 1990 | Huoponen, K., Vilkki, J., Savontaus, M.L., Aula, P., Nikoskelainen, E.K. (1990) Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy Genomics . 8 (3): 583-585 . |
10 | 2346190 | 1990 | Lott, M.T., Voljavec, A.S., Wallace, D.C. (1990) Variable genotype of Leber's hereditary optic neuropathy patients American Journal of Ophthalmology . 109 (6): 625-631 . |
11 | 2346203 | 1990 | Newman, N.J., Wallace, D.C. (1990) Mitochondria and Leber's hereditary optic neuropathy American Journal of Ophthalmology . 109 (6): 726-730 . |
12 | 2390098 | 1990 | Bolhuis, P.A., Bleeker-Wagemakers, E.M., Ponne, N.J., Van Schooneveld, M.J., Westerveld, A., Van den Bogert, C., Tabak, H.F. (1990) Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 170 (3): 994-997 . |
13 | 1763894 | 1991 | Larsson, N.G.,ersen, O., Holme, E., Oldfors, A., Wahlstrom, J. (1991) Leber's hereditary optic neuropathy and complex I deficiency in muscle Annals of Neurology . 30 (5): 701-708 . |
14 | 1770533 | 1991 | Poulton, J., Deadman, M.E., Bronte-Stewart, J., Foulds, W.S., Gardiner, R.M. (1991) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy Journal of Medical Genetics . 28 (11): 765-770 . |
15 | 1770665 | 1991 | Isashiki, Y., Nakagawa, M. (1991) Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy Japanese Journal of Ophthalmology . 35 (3): 259-267 . |
16 | 1866007 | 1991 | Cortelli, P., Montagna, P., Avoni, P., Sangiorgi, S., Bresolin, N., Moggio, M., Zaniol, P., Mantovani, V., Barboni, P., Barbiroli, B., Lugaresi, E. (1991) Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family Neurology . 41 (8): 1211-1215 . |
17 | 1895564 | 1991 | Hiida, Y., Mashima, Y., Oguchi, Y., Uemura, Y., Kudoh, J., Sakai, K., Shimizu, N. (1991) Mitochondrial DNA analysis of Leber's hereditary optic neuropathy Japanese Journal of Ophthalmology . 35 (1): 102-106 . |
18 | 1900003 | 1991 | Johns, D. R., Berman, J. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 174 (3): 1324-1330 . |
19 | 1937476 | 1991 | Carducci, C., Leuzzi, V., Scuderi, M., DeNegri, A.M., Gabrieli, C.B., Antonozzi, I., Pontecorvi, A. (1991) Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy Human Genetics . 87 (6): 725-727 . |
20 | 1959619 | 1991 | Majander, A., Huoponen, K., Savontaus, M.L., Nikoskelainen, E., Wikstrom, M. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON) FEBS Letters . 292 (40545): 289-292 . |
21 | 2039048 | 1991 | Newman, N.J., Lott, M.T., Wallace, D.C. (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation American Journal of Ophthalmology . 111 (6): 750-762 . |
22 | NA | 1992 | Hiida, Y., Mashima, Y., Oguchi, Y., Kudoh, J., Sakai, K., Shimizu, N. (1992) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy Molecular Approaches to the Study and Treatment of Human Diseases Yoshida, T.O., Wilson, J.M. (.): 69-71 Elsevier Science Publishers |
23 | 1346348 | 1992 | Zhu, D., Economou, E.P., Antonarakis, S.E., Maumenee, I.H. (1992) Mitochondrial DNA mutation and heteroplasmy in Type I Leber hereditary optic neuropathy American Journal of Medical Genetics . 42 (2): 173-179 . |
24 | 1352537 | 1992 | Sudoyo, H., Marzuki, S., Mastaglia, F., Carroll, W. (1992) Molecular genetics of Leber's hereditary optic neuropathy: study of a six-generation family from Western Australia Journal of the Neurological Sciences . 108 (1): 7-17 . |
25 | 1353825 | 1992 | Mashima, Y., Hiida, Y., Oguchi, Y. (1992) Remission of Leber's hereditary optic neuropathy with idebenone Lancet . 340 (8815): 368-369 . |
26 | 1444915 | 1992 | Johns, D. R., Smith, K. H., Miller, N. R. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation Archives of Ophthalmology . 110 (11): 1577-1581 . |
27 | 1532593 | 1992 | Stone, E.M., Newman, N.J., Miller, N.R., Johns, D.R., Lott, M.T., Wallace, D.C. (1992) Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation Journal of Clinical Neuro-ophthalmology . 12 (1): 10-14 . |
28 | 1575231 | 1992 | Ortiz, R.G., Newman, N.J., Manoukian, S.V., Diesenhouse, M.C., Lott, M.T., Wallace, D.C. (1992) Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy American Journal of Ophthalmology . 113 (5): 561-566 . |
29 | 1635296 | 1992 | Nakamura, M., Ara, F., Yamada, M., Hotta, Y., Hayakawa, M., Fujiki, K., Kanai, A., Sakai, J., Inoue, M., Yamamoto, M., Fujiwara, Y., Umoto, A., Miyazaki, S., Shimo-Oku, M., Furuyama, J.-I., Nakajima, A., Imachi, J. (1992) High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy Japanese Journal of Ophthalmology . 36 (1): 56-61 . |
30 | 1734726 | 1992 | Howell, N., McCullough, D., Bodis-Wollner, I. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (2): 443-446 . |
31 | 7901141 | 1993 | Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, J.L. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Human Genetics . 92 (4): 379-384 . |
32 | 8101084 | 1993 | Norby, S. (1993) Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy DNA and Cell Biology . 12 (6): 549-552 . |
33 | 8103501 | 1993 | Mashima, Y., Hiida, Y., Oguchi, Y., Kudoh, J., Shimizu, N. (1993) High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy Human Genetics . 92 (1): 101-102 . |
34 | 8213820 | 1993 | Johns, D. R., Neufeld, M. (1993) Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON) American Journal of Human Genetics . 53 (4): 916-20 . |
35 | 8240101 | 1993 | Cullom, M.E., Heher, K.L., Miller, N.R., Savino, P.J., Johns, D.R. (1993) Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia Archives of Ophthalmology . 111 (11): 1482-1485 . |
36 | 8240102 | 1993 | Smith, K.H., Johns, D.R., Heher, K.L., Miller, N.R. (1993) Heteroplasmy in Leber's hereditary optic neuropathy Archives of Ophthalmology . 111 (11): 1486-1490 . |
37 | 8240103 | 1993 | Johns, D. R., Smith, K. H., Miller, N. R., Sulewski, M. E., Bias, W. B. (1993) Identical twins who are discordant for Leber's hereditary optic neuropathy Archives of Ophthalmology . 111 (11): 1491-1494 . |
38 | 8255489 | 1993 | Flanigan, K.M., Johns, D.R. (1993) Association of the 11778 mitochondrial DNA mutation and demyelinating disease Neurology . 43 (12): 2720-2722 . |
39 | 8320863 | 1993 | Isashiki, Y., Ohba, N., Uto, M., Nakagawa, M. (1993) Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes Japanese Journal of Ophthalmology . 37 (1): 39-42 . |
40 | 8401538 | 1993 | Norby, S. (1993) Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification Human Mutation . 2 (4): 309-313 . |
41 | 8448903 | 1993 | Cavelier, L., Gyllensten, U., Dahl, N. (1993) Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis Clinical Genetics . 43 (2): 69-72 . |
42 | 8449667 | 1993 | Nakamura, M., Fujiwara, Y., Yamamoto, M. (1993) Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease Investigative Ophthalmology and Visual Science . 34 (3): 488-495 . |
43 | 8457609 | 1993 | Erickson, C.E., Castora, F.J. (1993) PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1181 (1): 77-82 . |
44 | 8474822 | 1993 | Moorman, C.M., Elston, J.S., Matthews, P. (1993) Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood Pediatrics . 91 (5): 988-989 . |
45 | 8489402 | 1993 | Weiner, N.C., Newman, N.J., Lessell, S., Johns, D.R., Lott, M.T., Wallace, D.C. (1993) Atypical Leber's hereditary optic neuropathy with molecular confirmation Archives of Neurology . 50 (5): 470-473 . |
46 | 8489411 | 1993 | Newman, N.J. (1993) Leber's hereditary optic neuropathy. New genetic considerations Archives of Neurology . 50 (5): 540-548 . |
47 | 7770132 | 1994 | Hanefeld, F.A., Ernst, B.P., Wilichowski, E., Christen, H.J. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis Neuropediatrics . 25 (6): 331 . |
48 | 7801223 | 1994 | Swartz, N., Savino, P.J. (1994) Is all nondefinable optic atrophy Leber's hereditary optic neuropathy? Survey of Ophthalmology . 39 (2): 146-150 . |
49 | 7814218 | 1994 | Salmaggi, A., Carrara, F., Zeviani, M. (1994) Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA International Journal of Neuroscience . 77 (40606): 261-266 . |
50 | 7821467 | 1994 | Mackey, D.A. (1994) Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy Eye . 8 (Pt 4): 431-436 . |
51 | 7853025 | 1994 | Govan, G.G., Smith, P.R., Kellar-Wood, H., Schapira, A.H., Harding, A.E. (1994) HLA class II genotypes in Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 126 (2): 193-196 . |
52 | 7916404 | 1994 | Nikoskelainen, E.K., Savontaus, M.L., Huoponen, K., Antila, K., Hartiala, J. (1994) Pre-excitation syndrome in Leber's hereditary optic neuropathy Lancet . 344 (8926): 857-858 . |
53 | 7924787 | 1994 | Jackson, M.J., Bindoff, L.A., Weber, K., Wilson, J.N., Ince, P., Alberti, K.G., Turnbull, D.M. (1994) Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness Diabetes Care . 17 (7): 728-733 . |
54 | 7926004 | 1994 | Degli Esposti, M., Carelli, V., Ghelli, A., Ratta, M., Crimi, M., Sangiorgi, S., Montagna, P., Lenaz, G., Lugaresi, E., Cortelli, P. (1994) Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy FEBS Letters . 352 (3): 375-379 . |
55 | 7977345 | 1994 | Obermaier-Kusser, B., Lorenz, B., Schubring, S., Paprotta, A., Zerres, K., Meitinger, T., Meire, F., Cochaux, P., Blankenagel, A., Kommerell, G., Jaksch, M., Gerbitz, K. D. (1994) Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (5): 1063-1066 . |
56 | 8023847 | 1994 | Howell, N., Xu, M., Halvorson, S., Bodis-Wollner, I., Sherman, J. (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation American Journal of Human Genetics . 55 (1): 203-206 . |
57 | 8023848 | 1994 | Kobayashi, Y., Sharpe, H., Brown, N. (1994) Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (1): 206-209 . |
58 | 8024249 | 1994 | Kellar-Wood, H., Robertson, N., Govan, G.G., Compston, D.A., Harding, A.E. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis Annals of Neurology . 36 (1): 109-112 . |
59 | 8053461 | 1994 | Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Fernandez, M.M., Wallace, D.C., the Cuba Neuropathy Field Investigation Team (1994) Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients American Journal of Ophthalmology . 118 (2): 158-168 . |
60 | 8071952 | 1994 | Oostra, R.J., Bolhuis, P.A., Wijburg, F.A., Zorn-Ende, G., Bleeker-Wagemakers, E.M. (1994) Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome Journal of Medical Genetics . 31 (4): 280-286 . |
61 | 8071960 | 1994 | Pilz, D., Quarrell, O.W., Jones, E.W. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD) Journal of Medical Genetics . 31 (4): 328-330 . |
62 | 8118464 | 1994 | Huoponen, K., Juvonen, V., Iitia, A., Dahlen, P., Siitari, H., Aula, P., Nikoskelainen, E., Savontaus, M.L. (1994) Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy Human Mutation . 3 (1): 29-36 . |
63 | 8165962 | 1994 | Nakamura, M., Yamamoto, M. (1994) [Genetic characteristics of Japanese pedigrees with Leber's hereditary optic neuropathy] Nippon Ganka Gakkai Zasshi . 98 (4): 319-326 . |
64 | 8195807 | 1994 | Smith, P.R., Cooper, J.M., Govan, G.G., Harding, A.E., Schapira, A.H. (1994) Platelet mitochondrial function in Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 122 (1): 80-83 . |
65 | 8250088 | 1994 | Mashima, Y., Hiida, Y., Kubota, R., Oguchi, Y., Kudoh, J., Shimizu, N. (1994) DNA diagnosis of Leber's hereditary optic neuropathy using dried blood specimens American Journal of Ophthalmology . 116 (6): 773-774 . |
66 | 8270249 | 1994 | Juvonen, V., Huoponen, K., Syvanen, A.C., Nikoskelainen, E., Savontaus, M.L. (1994) Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing Human Genetics . 93 (1): 16-20 . |
67 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
68 | 7601652 | 1995 | Mashima, Y., Saga, M., Hiida, Y., Oguchi, Y., Wakakura, M., Kudoh, J., Shimizu, N. (1995) Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism Investigative Ophthalmology and Visual Science . 36 (8): 1714-1720 . |
69 | 7603534 | 1995 | Ishikawa, S., Ichibe, Y., Yokoe, J., Wakakura, M. (1995) Leber's hereditary optic neuropathy among Japanese Muscle and Nerve . 3 (9): S85-S89 . |
70 | 7611298 | 1995 | Harding, A.E., Sweeney, M.G., Govan, G.G., Riordan-Eva, P. (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation American Journal of Human Genetics . 57 (1): 77-86 . |
71 | 7612556 | 1995 | Wakakura, M., Yokoe, J. (1995) Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy British Journal of Ophthalmology . 79 (5): 442-446 . |
72 | 7617193 | 1995 | Nishimura, M., Obayashi, H., Ohta, M., Uchiyama, T., Hao, Q., Saida, T. (1995) No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan Neurology . 45 (7): 1333-1334 . |
73 | 7617199 | 1995 | Barbiroli, B., Montagna, P., Cortelli, P., Iotti, S., Lodi, R., Barboni, P., Monari, L., Lugaresi, E., Frassineti, C., Zaniol, P. (1995) Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation Neurology . 45 (7): 1364-1369 . |
74 | 7629530 | 1995 | Nikoskelainen, E.K., Marttila, R.J., Huoponen, K., Juvonen, V., Lamminen, T., Sonninen, P., Savontaus, M.L. (1995) Leber's 'plus': neurological abnormalities in patients with Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 59 (2): 160-164 . |
75 | 7635294 | 1995 | Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 . |
76 | 7639060 | 1995 | Olsen, N.K., Hansen, A.W., Norby, S., Edal, A.L., Jorgensen, J.R., Rosenberg, T. (1995) Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation Acta Neurologica Scandinavica . 91 (5): 326-329 . |
77 | 7649539 | 1995 | Matthews, P.M., Brown, R.M., Morten, K., Marchington, D., Poulton, J., Brown, G. (1995) Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA Human Genetics . 96 (3): 261-268 . |
78 | 7707093 | 1995 | Funakawa, I., Kato, H., Terao, A., Ichihashi, K., Kawashima, S., Hayashi, T., Mitani, K., Miyazaki, S. (1995) Cerebellar ataxia in patients with Leber's hereditary optic neuropathy Journal of Neurology . 242 (2): 75-77 . |
79 | 7710535 | 1995 | Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Wallace, D.C., Philen, R., Roman, G.C. (1995) Cuban optic neuropathy [letter; comment] Neurology . 45 (2): 397 . |
80 | 7735876 | 1995 | Riordan-Eva, P., Sanders, M.D., Govan, G.G., Sweeney, M.G., Da Costa, J., Harding, A.E. (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain . 118 (Pt 2): 319-337 . |
81 | 7745422 | 1995 | Montagna, P., Plazzi, G., Cortelli, P., Carelli, V., Lugaresi, E., Barboni, P., Fiocchi, M. (1995) Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 58 (5): 640-641 . |
82 | 7760326 | 1995 | Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 . |
83 | 7763260 | 1995 | Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C., Lugaresi, E. (1995) MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells Biochemical and Biophysical Research Communications . 210 (3): 880-888 . |
84 | 7823072 | 1995 | Morrissey, S.P., Borruat, F.X., Miller, D.H., Moseley, I.F., Sweeney, M.G., Govan, G.G., Kelly, M.A., Francis, D.A., Harding, A.E., McDonald, W.I. (1995) Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies Journal of Neurology, Neurosurgery and Psychiatry . 58 (1): 70-74 . |
85 | 7832241 | 1995 | Mashima, Y., Hiida, Y., Saga, M., Oguchi, Y., Kudoh, J., Shimizu, N. (1995) Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy American Journal of Ophthalmology . 119 (2): 245-246 . |
86 | 8556281 | 1995 | Meire, F. M., Van Coster, R., Cochaux, P., Obermaier-Kusser, B., Candaele, C., Martin, J. J. (1995) Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations Ophthalmic Genetics . 16 (3): 119-126 . |
87 | 8680405 | 1995 | Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 . |
88 | 8600429 | 1996 | Nikoskelainen, E. K., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., Savontaus, M. L. (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology . 103 (3): 504-514 . |
89 | 8659512 | 1996 | Chalmers, R.M., Davis, M.B., Sweeney, M.G., Wood, N.W., Harding, A.E. (1996) Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (1): 103-108 . |
90 | 8662757 | 1996 | Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G., Chomyn, A. (1996) Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy Journal of Biological Chemistry . 271 (22): 13155-13161 . |
91 | 8755941 | 1996 | Mackey, D. A., Oostra, R. J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., Harding, A. E., Govan, G., Bolhuis, P. A., Norby, S. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (2): 481-485 . |
92 | 8867076 | 1996 | Jansen, P. H., van der Knaap, M. S., de Coo, I. F. (1996) Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings Journal of the Neurological Sciences . 135 (2): 176-180 . |
93 | 8931573 | 1996 | Charlmers, R. M., Harding, A. E. (1996) A case-control study of Leber's hereditary optic neuropathy Brain . 119 (Pt 5): 1481-1486 . |
94 | 8941270 | 1996 | Melberg, A., Arnell, H., Dahl, N., Stalberg, E., Raininko, R., Oldfors, A., Bakall, B., Lundberg, P. O., Holme, E. (1996) Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism Muscle and Nerve . 19 (12): 1561-1569 . |
95 | 9012411 | 1997 | Brown, M.D., Sun, F., Wallace, D.C. (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage American Journal of Human Genetics . 60 (2): 381-387 . |
96 | 9125387 | 1997 | Cortelli, P., Montagna, P., Pierangeli, G., Lodi, R., Barboni, P., Liguori, R., Carelli, V., Iotti, S., Zaniol, P., Lugaresi, E., Barbiroli, B. (1997) Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study Journal of the Neurological Sciences . 148 (1): 25-31 . |
97 | 9150158 | 1997 | Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., De Negri, A., Scozzari, R. (1997) 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 American Journal of Human Genetics . 60 (5): 1107-1121 . |
98 | 9175737 | 1997 | Oexle, K., Zwirner, A. (1997) Advanced telomere shortening in respiratory chain disorders Human Molecular Genetics . 6 (6): 905-908 . |
99 | 9302261 | 1997 | Hofmann, S., Jaksch, M., Bezold, R., Mertens, S., Aholt, S., Paprotta, A., Gerbitz, K.D. (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease Human Molecular Genetics . 6 (11): 1835-1846 . |
100 | 9412783 | 1997 | Lamminen, T., Huoponen, K., Sistonen, P., Juvonen, V., Lahermo, P., Aula, P., Nikoskelainen, E., Savontaus, M.L. (1997) mtDNA haplotype analysis in Finnish families with Leber Hereditary Optic Neuroretinopathy European Journal of Human Genetics . 5 (5): 271-279 . |
101 | 9541428 | 1998 | Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S., Osame, M. (1998) Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation Acta Ophthalmologica Scandinavica . 76 (1): 6-13 . |
102 | 9541429 | 1998 | Mitani, I., Miyazaki, S., Hayashi, T., Fukidome, Y., Shimo-oku, M. (1998) Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations Acta Ophthalmologica Scandinavica . 76 (1): 14-19 . |
103 | 9685604 | 1998 | Lunardi, J., Darrouzet, E., Dupuis, A., Issartel, J.P. (1998) The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1407 (2): 114-124 . |
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