Index | PMID | Date | Reference |
---|---|---|---|
1 | NA | 1994 | Manfredi, G., Bonilla, E., Schon, E.A., DiMauro, S., Moraes, C. (1994) A mitochondrial DNA missense mutation in the cytochrome oxidase subunit III gene associated with a progressive encephalopathy Miami Short Reports . 4 (-): 17 . |
2 | 7496173 | 1995 | Manfredi, G., Schon, E.A., Moraes, C.T., Bonilla, E., Berry, G.T., Sladky, J.T., DiMauro, S. (1995) A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene Neuromuscular Disorders . 5 (5): 391-398 . |
3 | 10065021 | 1998 | Arbustini, E., Fasani, R., Morbini, P., Diegoli, M., Grasso, M., Dal Bello, B., Marangoni, E., Banfi, P., Banchieri, N., Bellini, O., Comi, G., Narula, J., Campana, C., Gavazzi, A., Danesino, C., Vigano, M. (1998) Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999 Mar;81(3):330] Heart . 80 (6): 548-558 . |
4 | 15282179 | 2004 | Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G., Solaini, G. (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochimica et Biophysica Acta . 1658 (1-2): 89-94 . |
5 | 15823923 | 2005 | Abu-Amero, K. K., Bosley, T. M., Bohlega, S., Hansen, E. (2005) Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS Ophthalmic Genetics . 26 (1): 31-36 . |
6 | 18587274 | 2008 | Choi, B. O., Hwang, J. H., Kim, J., Cho, E. M., Cho, S. Y., Hwang, S. J., Lee, H. W., Kim, S. J., Chung, K. W. (2008) A MELAS syndrome family harboring two mutations in mitochondrial genome Experimental and Molecular Medicine . 40 (3): 354-360 . |
7 | 21249588 | 2011 | Liu, C. H., Liou, C. W., Liu, C. H., Kuo, H. C., Chu, C. C., Huang, C. C. (2011) Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient Acta Neurologica Taiwanica . 20 (1): 53-58 . |
8 | 29976239 | 2018 | Tseng, C. C., Chen, C. J., Yen, J. H., Huang, H. Y., Chang, J. G., Chang, S. J., Liao, W. T. (2018) Next-generation sequencing profiling of mitochondrial genomes in gout Arthritis Research and Therapy . 20 (1): 137 . |