Index | PMID | Date | Reference |
---|---|---|---|
1 | 1764087 | 1991 | Johns, D. R., Neufeld, M. J. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 181 (3): 1358-1364 . |
2 | 1463007 | 1992 | Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 . |
3 | 1634041 | 1992 | Brown, M.D., Voljavec, A.S., Lott, M.T., MacDonald, I., Wallace, D.C. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases FASEB Journal . 6 (10): 2791-2799 . |
4 | 1732158 | 1992 | Brown, M.D., Voljavec, A.S., Lott, M.T., Torroni, A., Yang, C.-C., Wallace, D.C. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy Genetics . 130 (1): 163-173 . |
5 | 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 . |
6 | 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 . |
7 | 8240104 | 1993 | Heher, K.L., Johns, D.R. (1993) A maculopathy associated with the 15257 mitochondrial DNA mutation Archives of Ophthalmology . 111 (11): 1495-1499 . |
8 | 8321540 | 1993 | Johns, D. R., Smith, K. H., Savino, P. J., Miller, N. R. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation Archives of Ophthalmology . 100 (7): 981-986 . |
9 | 8417984 | 1993 | Howell, N., Kubacka, I., Halvorson, S., Mackey, D. (1993) Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene Genetics . 133 (1): 133-136 . |
10 | 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 . |
11 | 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 . |
12 | 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 . |
13 | 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 . |
14 | 8076942 | 1994 | Oostra, R.J., Bolhuis, P.A., Zorn-Ende, I., de Kok-Nazaruk, M.M., Bleeker-Wagemakers, E.M. (1994) Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation Human Genetics . 94 (3): 265-270 . |
15 | 8163275 | 1994 | Haferkamp, O., Scheuerle, A., Schlenk, R., Melzner, I., Pavenstadt-Grupp, I., Rodel, G. (1994) Mitochondrial complex I and III mutations and neutral-lipid storage in activated mononuclear macrophages and neutrophils: a case presenting with necrotizing myopathy, poikiloderma atrophicans vasculare, and xanthogranulomatous bursitis Human Pathology . 25 (4): 419-423 . |
16 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
17 | 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 . |
18 | 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 . |
19 | 7733466 | 1995 | Kim, Y.L., Brown, M.D., Wallace, D.C. (1995) Single-strand conformation polymorphism analysis for the detection of point mutations in the mitochondrial DNA Analytical Biochemistry . 224 (2): 608-611 . |
20 | 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 . |
21 | 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 . |
22 | 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 . |
23 | 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 . |
24 | 8899049 | 1996 | Mayr-Wohlfart, U., Paulus, C., Henneberg, A., Rodel, G. (1996) Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement Acta Neurologica Scandinavica . 94 (3): 167-171 . |
25 | 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 . |
26 | 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 . |
27 | 9561330 | 1998 | Haferkamp, O., Rosenau, W., Scheuerle, A., Pietrczyk, C., Skowronek, P., Rodel, G. (1998) Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations Clinical Neuropathology . 17 (2): 85-94 . |
28 | 9719386 | 1998 | Chinnery, P. F., Turnbull, D. M., Howell, N., Andrews, R. M. (1998) Mitochondrial DNA mutations and pathogenicity Journal of Medical Genetics . 35 (8): 701-702 . |
29 | 10424809 | 1999 | Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 . |
30 | 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 . |
31 | 10545708 | 1999 | Went, L. N. (1999) Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities Cytogenetics and Cell Genetics . 86 (2): 153-156 . |
32 | 11339587 | 2001 | Dogulu, C. F., Kansu, T., Seyrantepe, V., Ozguc, M., Topaloglu, H., Johns, D. R. (2001) Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population Eye (London) . 15 (Pt 2): 183-188 . |
33 | 11464242 | 2001 | Legros, F., Chatzoglou, E., Frachon, P., Ogier De Baulny, H., Laforet, P., Jardel, C., Godinot, C., Lombes, A. (2001) Functional characterization of novel mutations in the human cytochrome b gene European Journal of Human Genetics . 9 (7): 510-581 . |
34 | 11935318 | 2002 | Brown, M. D., Starikovskaya, Y. B., Derbeneva, O., Hosseini, S., Allen, J. C., Mikhailovskaya, I. E., Sukernik, R. I., Wallace, D. C. (2002) The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J Human Genetics . 110 (2): 130-138 . |
35 | 12150954 | 2002 | Fauser, S., Luberichs, J., Besch, D., Leo-Kottler, B. (2002) Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 295 (2): 342-347 . |
36 | 12483296 | 2003 | Niemi, A. K., Hervonen, A., Hurme, M., Karhunen, P. J., Jylha, M., Majamaa, K. (2003) Mitochondrial DNA polymorphisms associated with longevity in a Finnish population Human Genetics . 112 (1): 29-33 . |
37 | 15060117 | 2004 | Man, P. Y., Howell, N., Mackey, D. A., Norby, S., Rosenberg, T., Turnbull, D. M., Chinnery, P. F. (2004) Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees Journal of Medical Genetics . 41 (4): e41 . |
38 | 16050984 | 2005 | Povalko, N., Zakharova, E., Rudenskaia, G., Akita, Y., Hirata, K., Toyojiro, M., Koga, Y. (2005) A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy Mitochondrion . 5 (3): 194-199 . |
39 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
40 | 18647627 | 2008 | Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 . |
41 | 18931934 | 2009 | Dominguez-Garrido, E., Martinez-Redondo, D., Martin-Ruiz, C., Gomez-Duran, A., Ruiz-Pesini, E., Madero, P., Tamparillas, M., Montoya, J., von Zglinicki, T., Diez-Sanchez, C., Lopez-Perez, M. J. (2009) Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations Biogerontology . 10 (4): 435-442 . |
42 | 21067478 | 2010 | Bosley, T. M., Abu-Amero, K. K. (2010) Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies Ophthalmic Genetics . 31 (4): 163-172 . |
43 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
44 | 23563965 | 2013 | Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 . |
45 | 30369864 | 2018 | Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 . |