Index | PMID | Date | Reference |
---|---|---|---|
1 | 15870203 | 2005 | Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 . |
2 | 19460299 | 2009 | Mimaki, M., Hatakeyama, H., Ichiyama, T., Isumi, H., Furukawa, S., Akasaka, M., Kamei, A., Komaki, H., Nishino, I., Nonaka, I., Goto, Y. (2009) Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders Mitochondrion . 9 (2): 115-122 . |
3 | 24667782 | 2015 | Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 . |
4 | 29161289 | 2017 | Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 . |