Index | PMID | Date | Reference |
---|---|---|---|
1 | 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 . |
2 | 1442494 | 1992 | Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 . |
3 | 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 . |
4 | 7599217 | 1995 | Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 . |
5 | 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 . |
6 | 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 . |
7 | 8728705 | 1996 | Thomas, A.W., Edwards, A., Sherratt, E.J., Majid, A., Gagg, J., Alcolado, J.C. (1996) Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus Journal of Medical Genetics . 33 (3): 253-256 . |
8 | 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 . |
9 | 10704697 | 2000 | Chen, Y., Liao, W. X., Roy, A. C., Loganath, A., Ng, S. C. (2000) Mitochondrial gene mutations in gestational diabetes mellitus Diabetes Research and Clinical Practice . 48 (1): 29-35 . |
10 | 15338331 | 2004 | Mostafaie, N., Rossmanith, W., Hombauer, H., Dechat, T., Raffelsberger, T., Bauer, K., Worofka, B., Kittl, E., Hofmann, J., Hejtman, M., Kirchmeyr, W., Schreiber, W., Weissgram, S., Jungwirth, S., Fischer, P., Bittner, R., Huber, K. (2004) Mitochondrial genotype and risk for Alzheimer's disease: cross-sectional data from the Vienna-Transdanube-Aging "VITA" study Journal of Neural Transmission . 111 (9): 1155-1165 . |
11 | 16168441 | 2005 | Sciacco, M., Prelle, A., Fagiolari, G., Bordoni, A., Crimi, M., Di Fonzo, A., Ciscato, P., Lamperti, C., D'Adda, E., Jann, S., Bresolin, N., Comi, G. P., Moggio, M. (2005) A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy Journal of the Neurological Sciences . 239 (1): 21-24 . |
12 | 16331560 | 2005 | Tang, D. L., Zhou, X., Zhou, K. Y., Li, X., Zhao, L., Liu, F., Zheng, F., Liu, S. M. (2005) [Association of mitochondrial DNA variation with type 2 diabetes mellitus] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 22 (6): 636-640 . |
13 | 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 . |
14 | 16414144 | 2006 | Tang, D. L., Zhou, X., Li, X., Zhao, L., Liu, F. (2006) Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population Diabetes Research and Clinical Practice . 73 (1): 77-82 . |
15 | 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 . |
16 | 18428021 | 2008 | Shao, L., Martin, M. V., Watson, S. J., Schatzberg, A., Akil, H., Myers, R. M., Jones, E. G., Bunney, W. E., Vawter, M. P. (2008) Mitochondrial involvement in psychiatric disorders Annals of Medicine . 40 (4): 281-295 . |
17 | 18679013 | 2008 | Liao, W. Q., Pang, Y., Yu, C. A., Wen, J. Y., Zhang, Y. G., Li, X. H. (2008) Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population The Tohoku Journal of Experimental Medicine . 215 (4): 377-384 . |
18 | 19324017 | 2009 | Liang, M., Guan, M., Zhao, F., Zhou, X., Yuan, M., Tong, Y., Yang, L., Wei, Q. P., Sun, Y. H., Lu, F., Qu, J., Guan, M. X. (2009) Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation Biochemical and Biophysical Research Communications . 383 (3): 286-292 . |
19 | 20728388 | 2010 | Zhang, M., Zhou, X., Li, C., Zhao, F., Zhang, J., Yuan, M., Sun, Y. H., Wang, J., Tong, Y., Liang, M., Yang, L., Cai, W., Wang, L., Qu, J., Guan, M. X. (2010) Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation Molecular Genetics and Metabolism . 101 (40577): 192-199 . |
20 | 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 . |
21 | 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 . |
22 | 22233893 | 2012 | Gu, M., Dong, X., Shi, L., Shi, L., Lin, K., Huang, X., Chu, J. (2012) Differences in mtDNA whole sequence between Tibetan and Han populations suggesting adaptive selection to high altitude Gene . 496 (1): 37-44 . |
23 | 22517755 | 2012 | Ji, F., Sharpley, M. S., Derbeneva, O., Alves, L. S., Qian, P., Wang, Y., Chalkia, D., Lvova, M., Xu, J., Yao, W., Simon, M., Platt, J., Xu, S., Angelin, A., Davila, A., Huang, T., Wang, P. H., Chuang, L. M., Moore, L. G., Qian, G., Wallace, D. C. (2012) Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans Proceedings of the National Academy of Sciences of the United States of America . 109 (19): 7391-7396 . |
24 | 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 . |
25 | 24002810 | 2013 | Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 . |
26 | 27177320 | 2016 | Ji, Y., Liang, M., Zhang, J., Zhu, L., Zhang, Z., Fu, R., Liu, X., Zhang, M., Fu, Q., Zhao, F., Tong, Y., Sun, Y., Jiang, P., Guan, M. X. (2016) Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 57 (6): 2377-2789 . |
27 | 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 . |