Index | PMID | Date | Reference |
---|---|---|---|
1 | 11102991 | 2000 | Batandier, C., Picard, A., Tessier, N., Lunardi, J. (2000) Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms Human Mutation . 16 (6): 532 . |
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 | 17940288 | 2007 | McKenzie, M., Liolitsa, D., Akinshina, N., Campanella, M., Sisodiya, S., Hargreaves, I., Nirmalananthan, N., Sweeney, M. G., Abou-Sleiman, P. M., Wood, N. W., Hanna, M. G., Duchen, M. R. (2007) Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption The Journal of Biological Chemistry . 282 (51): 36845-36852 . |
4 | 22589247 | 2012 | Petruzzella, V., Carrozzo, R., Calabrese, C., Dell'Aglio, R., Trentadue, R., Piredda, R., Artuso, L., Rizza, T., Bianchi, M., Porcelli, A. M., Guerriero, S., Gasparre, G., Attimonelli, M. (2012) Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants Human Molecular Genetics . 21 (17): 3753-3764 . |
5 | 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 . |
6 | 32652755 | 2020 | Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutation . 41 (10): . |