Index | PMID | Date | Reference |
---|---|---|---|
1 | 8644732 | 1996 | De Vries, D.D., Went, L.N., Bruyn, G.W., Scholte, H.R., Hofstra, R.M., Bolhuis, P.A., van Oost, B.A. (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia American Journal of Human Genetics . 58 (4): 703-711 . |
2 | 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 . |
3 | 16364244 | 2006 | Zhou, X., Wei, Q., Yang, L., Tong, Y., Zhao, F., Lu, C., Qian, Y., Sun, Y., Lu, F., Qu, J., Guan, M. X. (2006) Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families Biochemical and Biophysical Research Communications . 340 (1): 69-75 . |
4 | 17123466 | 2007 | Bandelt, H. J., Yao, Y. G., Salas, A., Kivisild, T., Bravi, C. M. (2007) High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients Biochemical and Biophysical Research Communications . 352 (2): 283-291 . |
5 | 17300996 | 2007 | Qu, J., Li, R., Zhou, X., Tong, Y., Yang, L., Chen, J., Zhao, F., Lu, C., Qian, Y., Lu, F., Guan, M. X. (2007) Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family Mitochondrion . 7 (40545): 140-146 . |
6 | 17922426 | 2007 | Zhao, F. X., Zhou, X. T., Qu, J., Wei, Q. P., Tong, Y., Yang, L., Lv, J. X., Guan, M. X. (2007) [Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 24 (5): 556-559 . |
7 | 19001017 | 2009 | Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 . |
8 | 19818876 | 2010 | Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 . |
9 | 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 . |
10 | 21482521 | 2011 | Ji, Y. C., Liu, X. L., Zhao, F. X., Zhang, J. J., Zhang, Y., Zhou, X. T., Qu, J., Guan, M. X. (2011) [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families] Yi Chuan . 33 (4): 322-328 . |