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 | 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 . |
3 | 1417830 | 1992 | Johns, D. R., Neufeld, M. J., Park, R. D. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 187 (3): 1551-1557 . |
4 | 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 . |
5 | 1550131 | 1992 | Johns, D. R. (1992) Mitochondrial ND-1 mutation in Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (4): 872-874 . |
6 | 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 . |
7 | 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 . |
8 | 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 . |
9 | 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 . |
10 | 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 . |
11 | 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 . |
12 | 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 . |
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 | 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 . |
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 | 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 . |
20 | 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 . |
21 | 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 . |
22 | 8741876 | 1996 | Brown, M.D., Shoffner, J.M., Kim, Y.L., Jun, A.S., Graham, B.H., Cabell, M.F., Gurley, D.S., Wallace, D.C. (1996) Mitochondrial DNA sequence analysis of four Alzheimer's and Parkingson's disease patients American Journal of Human Genetics . 61 (3): 283-289 . |
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 | 8978068 | 1996 | Torroni, A., Huoponen, K., Francalacci, P., Petrozzi, M., Morelli, L., Scozzari, R., Obinu, D., Savontaus, M.L., Wallace, D.C. (1996) Classification of European mtDNAs from an analysis of three European populations Genetics . 144 (4): 1835-1850 . |
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 | 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 . |
27 | 10737123 | 1998 | Kosel, S., Grasbon-Frodl, E. M., Mautsch, U., Egensperger, R., von Eitzen, U., Frishman, D., Hofmann, S., Gerbitz, K. D., Mehraein, P., Graeber, M. B. (1998) Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease Neurogenetics . 1 (3): 197-204 . |
28 | 10216058 | 1999 | Tsao, K., Aitken, P. A., Johns, D. R. (1999) Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy British Journal of Ophthalmology . 83 (5): 577-581 . |
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 | 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 . |
34 | 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 . |
35 | NA | 2003 | Silva, W. A., Jr., Bonatto, S. L., Holanda, A. J., Ribeiro-Dos-Santos, A. K., Paixao, B. M., Goldman, G. H., Abe-Sandes, K., Rodriguez-Delfin, L., Barbosa, M., Paco-Larson, M. L., Petzl-Erler, M. L., Valente, V., Santos, S. E., Zago, M. A. (2003) Correction: mitochondrial DNA variation in Amerindians American Journal of Human Genetics . 72 (5): 1346-1348; in response to 1341-1346; further reply 1348-1349 . |
36 | 12618962 | 2003 | van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., Colcher, A., Hiner, B. C., Jankovic, J., Ondo, W. G., Allen, F. H., Jr., Goetz, C. G., Small, G. W., Mastaglia, F., Stajich, J. M., McLaurin, A. C., Middleton, L. T., Scott, B. L., Schmechel, D. E., Pericak-Vance, M. A., Vance, J. M. (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease American Journal of Human Genetics . 72 (4): 804-811 . |
37 | 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 . |
38 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
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 | 18270557 | 2008 | Yu, X., Koczan, D., Sulonen, A. M., Akkad, D. A., Kroner, A., Comabella, M., Costa, G., Corongiu, D., Goertsches, R., Camina-Tato, M., Thiesen, H. J., Nyland, H. I., Mork, S. J., Montalban, X., Rieckmann, P., Marrosu, M. G., Myhr, K. M., Epplen, J. T., Saarela, J., Ibrahim, S. M. (2008) mtDNA nt13708A variant increases the risk of multiple sclerosis PLoS ONE . 3 (2): e1530 . |
41 | 18619472 | 2008 | Wang, H. W., Jia, X., Ji, Y., Kong, Q. P., Zhang, Q., Yao, Y. G., Zhang, Y. P. (2008) Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A Mutation Research . 643 (40545): 48-53 . |
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 | 21288980 | 2011 | Venkateswaran, S., Zheng, K., Sacchetti, M., Gagne, D., Arnold, D. L., Sadovnick, A. D., Scherer, S. W., Banwell, B., Bar-Or, A., Simon, D. K. (2011) Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination Neurology . 76 (9): 774-780 . |
44 | 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 . |
45 | 21694444 | 2011 | Du, W. D., Chen, G., Cao, H. M., Jin, Q. H., Liao, R. F., He, X. C., Chen, D. B., Huang, S. R., Zhao, H., Lv, Y. M., Tang, H. Y., Tang, X. F., Wang, Y. Q., Sun, S., Zhao, J. L., Zhang, X. J. (2011) A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON) Disease Markers . 30 (4): 181-190 . |
46 | 27498855 | 2016 | Kang, L., Zheng, H. X., Zhang, M., Yan, S., Li, L., Liu, L., Liu, K., Hu, K., Chen, F., Ma, L., Qin, Z., Wang, Y., Wang, X., Jin, L. (2016) MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders Scientific Reports . 6 (): 31083 . |
47 | 28341142 | 2017 | Andalib, S., Talebi, M., Sakhinia, E., Farhoudi, M., Sadeghi-Bazargani, H., Emamhadi, M. R., Masoodian, N., Balaghi-Inalou, M., Vafaee, M. S., Gjedde, A. (2017) Mitochondrial DNA G13708A variation and multiple sclerosis: Is there an association? Revue Neurologique (Paris) . 173 (3): 164-168 . |
48 | 29987491 | 2018 | O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 . |