| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 11335700 | 2001 | Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 . |
| 2 | 15564038 | 2004 | Spinazzola, A., Carrara, F., Mora, M., Zeviani, M. (2004) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation Neuromuscular Disorders . 14 (12): 815-817 . |
| 3 | 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 . |
| 4 | 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 . |
| 5 | 39175050 | 2024 | Lin, Y., Wang, J., Zhuang, X., Zhao, Y., Wang, W., Wang, D., Zhao, Y., Yan, C., Ji, K. (2024) Queuine ameliorates impaired mitochondrial function caused by mt-tRNA(Asn) variants Journal of Translational Medicine . 22 (1): 780 . |