Index | PMID | Date | Reference |
---|---|---|---|
1 | 10090475 | 1999 | Houshmand, M., Lindberg, C., Moslemi, A.R., Oldfors, A., Holme, E. (1999) A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring Human Mutation . 13 (3): 203-209 . |
2 | 15100439 | 2004 | Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 . |
3 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
4 | 17410322 | 2007 | Blakely, E. L., Swalwell, H., Petty, R. K., McFarland, R., Turnbull, D. M., Taylor, R. W. (2007) Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation Journal of Neurology . 254 (9): 1283-1285 . |
5 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |