| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 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 . |
| 2 | 11406419 | 2001 | Finnila, S., Hassinen, I. E., Majamaa, K. (2001) Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region Mutation Research . 458 (40545): 31-39 . |
| 3 | 12031626 | 2002 | Yamasoba, T., Goto, Y., Oka, Y., Nishino, I., Tsukuda, K., Nonaka, I. (2002) Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene Neuromuscular Disorders . 12 (5): 506-512 . |
| 4 | 15638829 | 2005 | Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 . |
| 5 | 16714301 | 2006 | Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 . |
| 6 | 16895436 | 2006 | Kazuno, A. A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A., Kato, T. (2006) Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics PLoS Genetics . 2 (8): e128 . |
| 7 | 18386806 | 2008 | Chen, B., Sun, D., Yang, L., Zhang, C., Yang, A., Zhu, Y., Zhao, J., Chen, Y., Guan, M., Wang, X., Li, R., Tang, X., Wang, J., Tao, Z., Lu, J., Guan, M. X. (2008) Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees American Journal of Medical Genetics. Part A . 146A (10): 1248-1258 . |
| 8 | 18545700 | 2008 | Bilal, E., Rabadan, R., Alexe, G., Fuku, N., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Ruckenstein, A., Bhanot, G., Tanaka, M. (2008) Mitochondrial DNA haplogroup D4a is a marker for extreme longevity in Japan PLoS One . 3 (6): e2421 . |
| 9 | 18820594 | 2008 | Wang, X., Lu, J., Zhu, Y., Yang, A., Yang, L., Li, R., Chen, B., Qian, Y., Tang, X., Wang, J., Zhang, X., Guan, M. X. (2008) Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families Pharmacogenetics and Genomics . 18 (12): 1059-1070 . |
| 10 | 19167085 | 2009 | Qu, J., Zhou, X., Zhang, J., Zhao, F., Sun, Y. H., Tong, Y., Wei, Q. P., Cai, W., Yang, L., West, C. E., Guan, M. X. (2009) Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation Ophthalmology . 116 (3): 558-564 e3 . |
| 11 | 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 . |
| 12 | 19733221 | 2010 | Qu, J., Zhou, X., Zhao, F., Liu, X., Zhang, M., Sun, Y. H., Liang, M., Yuan, M., Liu, Q., Tong, Y., Wei, Q. P., Yang, L., Guan, M. X. (2010) Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation Biochimica et Biophysica Acta . 1800 (3): 305-312 . |
| 13 | 20067846 | 2010 | Juo, S. H., Lu, M. Y., Bai, R. K., Liao, Y. C., Trieu, R. B., Yu, M. L., Wong, L. J. (2010) A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population Mitochondrion . 10 (3): 294-299 . |
| 14 | 21281460 | 2011 | Loo, J. H., Trejaut, J. A., Yen, J. C., Chen, Z. S., Lee, C. L., Lin, M. (2011) Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago BMC Genetics . 12 (Jan 31): 21 . |
| 15 | 21978175 | 2011 | Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 . |
| 16 | 23304069 | 2012 | Bi, R., Zhang, A. M., Jia, X., Zhang, Q., Yao, Y. G. (2012) Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy Molecular Vision . 18 (): 3087-3094 . |
| 17 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 18 | 24470521 | 2014 | Qin, Y., Xue, L., Jiang, P., Xu, M., He, Y., Shi, S., Huang, Y., He, J., Mo, J. Q., Guan, M. X. (2014) Mitochondrial tRNA variants in Chinese subjects with coronary heart disease Journal of the American Heart Association . 3 (1): e000437 . |