Index | PMID | Date | Reference |
---|---|---|---|
1 | NA | 1992 | Wallace, D.C., Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M. (1992) Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease American Journal of Human Genetics . 51 (-): A30 . |
2 | 8104867 | 1993 | Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M.R., Mirra, S.S., Beal, M.F., Yang, C., Gearing, M., Salvo, R., Watts, R.L., Juncos, J.L., Hansen, L.A., Crain, B.J., Fayad, M., Reckord, C.L., Wallace, D.C. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients Genomics . 17 (1): 171-184 . |
3 | 7599217 | 1995 | Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 . |
4 | 8741876 | 1996 | Brown, M.D., Shoffner, J.M., Kim, Y.L., Jun, A.S., Graham, B.H., Cabell, M.F., Gurley, D.S., Wallace, D.C. (1996) Mitochondrial DNA sequence analysis of four Alzheimer's and Parkingson's disease patients American Journal of Human Genetics . 61 (3): 283-289 . |
5 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
6 | 16523671 | 2006 | Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 . |
7 | 20211276 | 2010 | Tang, S., Batra, A., Zhang, Y., Ebenroth, E. S., Huang, T. (2010) Left ventricular noncompaction is associated with mutations in the mitochondrial genome Mitochondrion . 10 (4): 350-357 . |
8 | 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 . |
9 | 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 . |
10 | 27498855 | 2016 | Kang, L., Zheng, H. X., Zhang, M., Yan, S., Li, L., Liu, L., Liu, K., Hu, K., Chen, F., Ma, L., Qin, Z., Wang, Y., Wang, X., Jin, L. (2016) MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders Scientific Reports . 6 (): 31083 . |
11 | 29987491 | 2018 | O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 . |