Index | PMID | Date | Reference |
---|---|---|---|
1 | 1323207 | 1992 | Lertrit, P., Noer, A.S., Jean-Francois, M.J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E., Marzuki, S. (1992) A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I American Journal of Human Genetics . 51 (3): 457-68 . |
2 | 8213827 | 1993 | Sakuta, R., Goto, Y., Nonaka, I., Horai, S. (1993) An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism [letter; comment] American Journal of Human Genetics . 53 (4): 964-965 . |
3 | 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 . |
4 | 18468491 | 2008 | Takasaki, S. (2008) Mitochondrial SNPs associated with Japanese centenarians, Alzheimer's patients, and Parkinson's patients Computational Biology and Chemistry . 32 (5): 332-337 . |
5 | 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 . |
6 | 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 . |
7 | 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 . |