Index | PMID | Date | Reference |
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1 | 9266739 | 1997 | Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S., De Vivo, D. C. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene Annals of Neurology . 42 (2): 256-260 . |
2 | 10862082 | 2000 | Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 . |
3 | 12776230 | 2003 | Tulinius, M., Moslemi, A. R., Darin, N., Westerberg, B., Wiklund, L. M., Holme, E., Oldfors, A. (2003) Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene Neuropediatrics . 34 (2): 87-91 . |
4 | 14681757 | 2003 | Darin, N., Moslemi, A. R., Lebon, S., Rustin, P., Holme, E., Oldfors, A., Tulinius, M. (2003) Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency Neuropediatrics. . 34 (6): 311-317 . |
5 | 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 . |