Index | PMID | Date | Reference |
---|---|---|---|
1 | 8923013 | 1996 | Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E.A. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy Human Molecular Genetics . 5 (11): 1835-1840 . |
2 | 9361028 | 1997 | Shoubridge, E.A., Johns, T., Karpati, G. (1997) Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy Human Molecular Genetics . 6 (13): 2239-2242 . |
3 | 10332036 | 1999 | Taivassalo, T., Fu, K., Johns, T., Arnold, D., Karpati, G., Shoubridge, E.A. (1999) Gene shifting: a novel therapy for mitochondrial myopathy Human Molecular Genetics . 8 (6): 1047-1052 . |
4 | 12398839 | 2002 | Karadimas, C. L., Salviati, L., Sacconi, S., Chronopoulou, P., Shanske, S., Bonilla, E., De Vivo, D. C., DiMauro, S. (2002) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA Neuromuscular Disorders . 12 (9): 865-868 . |
5 | 18977334 | 2009 | Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 . |
6 | 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 . |
7 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
8 | 23631826 | 2013 | Wang, M., Zhou, X. L., Liu, R. J., Fang, Z. P., Zhou, M., Eriani, G., Wang, E. D. (2013) Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations Biochemical Journal . 453 (3): 455-465 . |
9 | 28951770 | 2017 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 . |