| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 7726154 | 1995 | Hao, H., Bonilla, E., Manfredi, G., DiMauro, S., Moraes, C. T. (1995) Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus American Journal of Human Genetics . 56 (5): 1017-1025 . |
| 2 | 7726155 | 1995 | Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A., Harding, A. E. (1995) Congenital encephalomyopathy and adult-onset myopathey and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation American Journal of Human Genetics . 56 (5): 1026-1033 . |
| 3 | 9353617 | 1997 | Vialettes, B. H., Paquis-Flucklinger, V., Pelissier, J. F., Bendahan, D., Narbonne, H., Silvestre-Aillaud, P., Montfort, M. F., Righini-Chossegros, M., Pouget, J., Cozzone, P. J., Desnuelle, C. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report Diabetes Care . 20 (11): 1731-1737 . |
| 4 | 10220138 | 1999 | Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 . |
| 5 | 10392369 | 1999 | Damore, M. E., Speiser, P. W., Slonim, A. E., New, M. I., Shanske, S., Xia, W., Santorelli, F. M., DiMauro, S. (1999) Early onset of diabetes mellitus associated with the mitochondrial DNA T.14709.C point mutation: patient report and literature review Journal of Pediatric Endrocrinology and Metabolism . 12 (2): 207-213 . |
| 6 | 11437868 | 2001 | Rigoli, L., Prisco, F., Caruso, R. A., Iafusco, D., Ursomanno, G., Zuccarello, D., Ingenito, N., Rigoli, M., Barberi, I. (2001) Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family Diabetic Medicine . 18 (4): 334-336 . |
| 7 | 11938495 | 2002 | Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 . |
| 8 | 12393175 | 2002 | Perucca-Lostanlen, D., Taylor, R. W., Narbonne, H., Mousson de Camaret, B., Hayes, C. M., Saunieres, A., Paquis-Flucklinger, V., Turnbull, D. M., Vialettes, B., Desnuelle, C. (2002) Molecular and functional effects of the T.14709.C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness Biochimica et Biophysica Acta . 1588 (3): 210-216 . |
| 9 | 15048886 | 2004 | McFarland, R., Schaefer, A. M., Gardner, J. L., Lynn, S., Hayes, C. M., Barron, M. J., Walker, M., Chinnery, P. F., Taylor, R. W., Turnbull, D. M. (2004) Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation Annals of Neurology . 55 (4): 478-484 . |
| 10 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
| 11 | 15607216 | 2005 | Mancuso, M., Ferraris, S., Nishigaki, Y., Azan, G., Mauro, A., Sammarco, P., Krishna, S., Tay, S. K., Bonilla, E., Romansky, S. G., Hirano, M., DiMauro, S. (2005) Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation Journal of the Neurological Sciences . 228 (1): 93-97 . |
| 12 | 15880407 | 2005 | Bannwarth, S., Procaccio, V., Paquis-Flucklinger, V. (2005) Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects Human Mutation . 25 (6): 575-582 . |
| 13 | 15983868 | 2005 | Vilmi, T., Moilanen, J. S., Finnila, S., Majamaa, K. (2005) Sequence variation in the tRNA genes of human mitochondrial DNA Journal of Molecular Evolution . 60 (5): 587-597 . |
| 14 | 17653689 | 2007 | Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007) Prevalence and progression of diabetes in mitochondrial disease Diabetologia . 50 (10): 2085-2089 . |
| 15 | 17886296 | 2007 | Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 . |
| 16 | 19199242 | 2009 | Wang, S. J., Wu, S. H., Zheng, T. S., Wang, L., Lu, H. J., Xiang, K. S. (2009) [Study on the mitochondrial DNA mutations in familial diabetes mellitus in Chinese population] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 26 (1): 6-10 . |
| 17 | 20045353 | 2009 | Mezghani, N., Mkaouar-Rebai, E., Mnif, M., Charfi, N., Rekik, N., Youssef, S., Abid, M., Fakhfakh, F. (2009) The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes Journal of Diabetes and its Complications . 24 (4): 270-277 . |
| 18 | 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 . |
| 19 | 22249460 | 2012 | Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W., Turnbull, D. M. (2012) Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study Journal of Neuropathology and Experimental Neurology . 71 (2): 148-161 . |
| 20 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
| 21 | 22577219 | 2012 | Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N., Turnbull, D. M. (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Brain . 135 (Pt 6): 1736-1750 . |
| 22 | 23301511 | 2013 | Mkaouar-Rebai, E., Chamkha, I., Mezghani, N., Ben Ayed, I., Fakhfakh, F. (2013) Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study Mitochondrial DNA . 24 (3): 163-178 . |
| 23 | 25652200 | 2015 | Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 . |
| 24 | 26469001 | 2015 | Rocha, M. C., Grady, J. P., Grunewald, A., Vincent, A., Dobson, P. F., Taylor, R. W., Turnbull, D. M., Rygiel, K. A. (2015) A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis Scientific Reports . 5 (): 15037 . |
| 25 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
| 26 | 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 . |
| 27 | 32313153 | 2020 | Riley, L. G., Cowley, M. J., Gayevskiy, V., Minoche, A. E., Puttick, C., Thorburn, D. R., Rius, R., Compton, A. G., Menezes, M. J., Bhattacharya, K., Coman, D., Ellaway, C., Alexander, I. E., Adams, L., Kava, M., Robinson, J., Sue, C. M., Balasubramaniam, S., Christodoulou, J. (2020) The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Genetics in Medicine 22 (7): 1254-1261 . |
| 28 | 32948797 | 2020 | Warren, C., McDonald, D., Capaldi, R., Deehan, D., Taylor, R. W., Filby, A., Turnbull, D. M., Lawless, C., Vincent, A. E. (2020) Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry Scientific Reports . 10 (1): 15336 . |