| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 8240356 | 1993 | Johns, D. R., Neufeld, M. J. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 196 (2): 810-815 . |
| 2 | NA | 1994 | Johns, D. R. (1994) Reply to Brown et al. ('Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy', Am. J. Hum. Genet. 55:410, 1994) American Journal of Human Genetics . 55 (2): 410-412 . |
| 3 | 7804416 | 1994 | Johns, D. R., Neufeld, M. J., Hedges, T. R. (1994) Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy Journal of Neuro-ophthalmology . 14 (3): 135-140 . |
| 4 | 8037201 | 1994 | Howell, N. (1994) Mitochondrial gene mutations and human diseases: a prolegomenon [editorial] American Journal of Human Genetics . 55 (2): 219-224 . |
| 5 | 8037217 | 1994 | Brown, M.D., Torroni, A., Huoponen, K., Chen, Y.S., Lott, M.T., Wallace, D.C. (1994) Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (2): 410-412 . |
| 6 | 8053461 | 1994 | Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Fernandez, M.M., Wallace, D.C., the Cuba Neuropathy Field Investigation Team (1994) Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients American Journal of Ophthalmology . 118 (2): 158-168 . |
| 7 | 7573056 | 1995 | Oostra, R.J., Van den Bogert, C., Nijtmans, L.G., van Galen, M.J., Zwart, R., Bolhuis, P.A., Bleeker-Wagemakers, E.M. (1995) Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings American Journal of Human Genetics . 57 (4): 954-957 . |
| 8 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
| 9 | 7710535 | 1995 | Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Wallace, D.C., Philen, R., Roman, G.C. (1995) Cuban optic neuropathy [letter; comment] Neurology . 45 (2): 397 . |
| 10 | 10520236 | 1999 | Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 . |
| 11 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
| 12 | 18161625 | 2007 | Abu-Amero, K. K., Bosley, T. M. (2007) Reassessment of the pathologic significance of the 9438 mitochondrial DNA mutation associated with LHON Ophthalmic Genetics . 28 (4): 229-230 . |
| 13 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
| 14 | 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 . |