MITOMAP References for Mutation G-A at 11778

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1 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 .
2 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 .
3 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 .
4 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 .
5 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 .
6 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 .
7 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 .
8 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 .
9 8255489 1993 Flanigan, K.M., Johns, D.R. (1993) Association of the 11778 mitochondrial DNA mutation and demyelinating disease Neurology . 43 (12): 2720-2722 .
10 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 .
11 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
12 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 .
13 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 .
14 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 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 .
20 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 .
21 2222273 1990 Johns, D. R. (1990) The molecular genetics of Leber's hereditary optic neuropathy Archives of Ophthalmology . 108 (10): 1405-1407 .
22 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 .
23 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 .
24 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 .
25 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 .
26 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 .
27 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 .
28 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 .
29 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 .
30 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 .
31 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 .
32 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 .
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 1353825 1992 Mashima, Y., Hiida, Y., Oguchi, Y. (1992) Remission of Leber's hereditary optic neuropathy with idebenone Lancet . 340 (8815): 368-369 .
35 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 .
36 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 .
37 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 .
38 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 .
39 8489411 1993 Newman, N.J. (1993) Leber's hereditary optic neuropathy. New genetic considerations Archives of Neurology . 50 (5): 540-548 .
40 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 .
41 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 .
42 2346203 1990 Newman, N.J., Wallace, D.C. (1990) Mitochondria and Leber's hereditary optic neuropathy American Journal of Ophthalmology . 109 (6): 726-730 .
43 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 .
44 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 .
45 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 .
46 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 .
47 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 .
48 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 .
49 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 .
50 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 .
51 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 .
52 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 .
53 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 .
54 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 .
55 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 .
56 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 .
57 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 .
58 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 .
59 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 .
60 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 .
61 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 .
62 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 .
63 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 .
64 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 .
65 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 .
66 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 .
67 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 .
68 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 .
69 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 .
70 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 .
71 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 .
72 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 .
73 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 .
74 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 .
75 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 .
76 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 .
77 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 .
78 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 .
79 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 .
80 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 .
81 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 .
82 7599218 1995 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
83 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 .
84 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 .
85 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 .
86 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 .
87 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 .
88 10976107 2000 Brown, M.D., Trounce, I.A., Jun, A.S., Allen, J.C., Wallace, D.C. (2000) Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mtDNA mutation Journal of Biological Chemistry . 275 (51): 39831-39836 .
89 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 .
90 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 .
91 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 .
92 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 .
93 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 .
94 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 .
95 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 .
96 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 .
97 10413253 1999 Yen, M.Y., Lee, H.C., Wang, A.G., Chang, W.L., Liu, J.H., Wei, Y.H. (1999) Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy Japanese Journal of Ophthalmology . 43 (3): 196-200 .
98 4003041 1985 Seedorff, T. (1985) The inheritance of Leber's disease. A genealogical follow-up study Acta Ophthalmologica (Copenhagen) 63 (2): 135-145
99 10520236 1999 Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 .
100 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 .
101 10426138 1999 Brown, M. D. (1999) The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 1-5 .
102 11169561 2001 Chinnery, P. F., Andrews, R. M., Turnbull, D. M., Howell, N. N. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? American Journal of Medical Genetics . 98 (3): 235-243 .
103 11754070 2001 Brown, M. D., Allen, J. C., Van Stavern, G. P., Newman, N. J., Wallace, D. C. (2001) Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations American Journal of Medical Genetics . 104 (4): 331-338 .
104 10939569 2000 Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M. (2000) The epidemiology of pathogenic mitochondrial DNA mutations Annals of Neurology . 48 (2): 188-193 .
105 10611124 2000 Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 .
106 12402249 2002 Guy, J., Qi, X., Pallotti, F., Schon, E. A., Manfredi, G., Carelli, V., Martinuzzi, A., Hauswirth, W. W., Lewin, A. S. (2002) Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy Annals of Neurology . 52 (5): 534-542 .
107 12402246 2002 Larsson, N. G. (2002) Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem Annals of Neurology . 52 (5): 529-530 .
108 12436196 2002 Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. (2002) Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy Journal of Human Genetics . 47 (11): 594-604 .
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