| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 8651277 | 1996 | Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., DiMauro, S. (1996) Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A) American Journal of Human Genetics . 58 (5): 933-939 . |
| 2 | 9052804 | 1997 | Ozawa, M., Nishino, I., Horai, S., Nonaka, I., Goto, Y.I. (1997) Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families Muscle and Nerve . 20 (3): 271-278 . |
| 3 | 9932960 | 1999 | Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S., Garesse, R. (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers Neurology . 52 (2): 377-382 . |
| 4 | 10102446 | 1999 | Casali, C., Fabrizi, G. M., Santorelli, F. M., Colazza, G., Villanova, M., Dotti, M. T., Cavallaro, T., Cardaioli, E., Battisti, C., Manneschi, L., DiGennaro, G. C., Fortini, D., Spadaro, M., Morocutti, C., Federico, A. (1999) Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family Neurology . 52 (5): 1103-1104 . |
| 5 | 10868777 | 2000 | Graf, W. D., Marin-Garcia, J., Gao, H. G., Pizzo, S., Naviaux, R. K., Markusic, D., Barshop, B. A., Courchesne, E., Haas, R. H. (2000) Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation Journal of Child Neurology . 15 (6): 357-361 . |
| 6 | 11108511 | 2000 | Shtilbans, A., Shanske, S., Goodman, S., Sue, C. M., Bruno, C., Johnson, T. L., Lava, N. S., Waheed, N., DiMauro, S. (2000) G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome Journal of Child Neurology . 15 (11): 759-761 . |
| 7 | 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 . |
| 8 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 9 | 15554876 | 2005 | Bornstein, B., Mas, J. A., Patrono, C., Fernandez-Moreno, M. A., Gonzalez-Vioque, E., Campos, Y., Carrozzo, R., Martin, M. A., del Hoyo, P., Santorelli, F. M., Arenas, J., Garesse, R. (2005) Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene Biochemical Journal . 387 (Pt 3): 773-778 . |
| 10 | 16326995 | 2006 | Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency Pediatric Research . 59 (1): 21-26 . |
| 11 | 18176892 | 2007 | Pronicki, M., Sykut-Cegielska, J., Matyja, E., Musialowicz, J., Karczmarewicz, E., Tonska, K., Piechota, J., Piekutowska-Abramczuk, D., Kowalski, P., Bartnik, E. (2007) G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child Folia Neuropathologica . 45 (4): 187-191 . |
| 12 | 18319067 | 2008 | Fornuskova, D., Brantova, O., Tesarova, M., Stiburek, L., Honzik, T., Wenchich, L., Tietzeova, E., Hansikova, H., Zeman, J. (2008) The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues Biochimica et Biophysica Acta . 1782 (5): 317-325 . |
| 13 | 19278689 | 2009 | Virgilio, R., Ronchi, D., Bordoni, A., Fassone, E., Bonato, S., Donadoni, C., Torgano, G., Moggio, M., Corti, S., Bresolin, N., Comi, G. P. (2009) Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study Journal of the Neurological Sciences . 281 (40545): 85-92 . |
| 14 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 15 | 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 . |
| 16 | 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 . |
| 17 | 21263444 | 2012 | Rossignol, D. A., Frye, R. E. (2012) Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis Molecular Psychiatry . 17 (3): 290-314 . |
| 18 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
| 19 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
| 20 | 25909222 | 2015 | Cruz-Bermudez, A., Vallejo, C. G., Vicente-Blanco, R. J., Gallardo, M. E., Fernandez-Moreno, M. A., Quintanilla, M., Garesse, R. (2015) Enhanced tumorigenicity by mitochondrial DNA mild mutations Oncotarget . 6 (15): 13628-13643 . |
| 21 | 29983856 | 2018 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Melnichenko, A. A., Postnov, A. Y., Orekhov, A. N., Sobenin, I. A. (2018) Cybrid models of pathological cell processes in different diseases Oxidative Medicine and Cellular Longevity . 2018 (): 4647214 . |
| 22 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |