Index | PMID | Date | Reference |
---|---|---|---|
1 | 8888049 | 1996 | Santorelli, F. M., Schlessel, J. S., Slonim, A. E., DiMauro, S. (1996) Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death Pediatric Neurology . 15 (2): 145-149 . |
2 | 10598821 | 1999 | Lehtonen, M. S., Meinila, M., Hassinen, I. E., Majamaa, K. (1999) Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA Human Genetics . 105 (5): 513-514 . |
3 | 12160969 | 2002 | Opdal, S. H., Vege, A., Egeland, T., Musse, M. A., Rognum, T. O. (2002) Possible role of mtDNA mutations in sudden infant death Pediatric Neurology . 27 (1): 23-29 . |
4 | 15466077 | 2004 | Opdal, S. H., Rognum, T. O. (2004) The sudden infant death syndrome gene: does it exist? Pediatrics . 114 (4): e506-512 . |
5 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
6 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
7 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
8 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |