Index | PMID | Date | Reference |
---|---|---|---|
1 | 1900003 | 1991 | Johns, D. R., Berman, J. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 174 (3): 1324-1330 . |
2 | 1550131 | 1992 | Johns, D. R. (1992) Mitochondrial ND-1 mutation in Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (4): 872-874 . |
3 | 7770132 | 1994 | Hanefeld, F.A., Ernst, B.P., Wilichowski, E., Christen, H.J. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis Neuropediatrics . 25 (6): 331 . |
4 | 7977345 | 1994 | Obermaier-Kusser, B., Lorenz, B., Schubring, S., Paprotta, A., Zerres, K., Meitinger, T., Meire, F., Cochaux, P., Blankenagel, A., Kommerell, G., Jaksch, M., Gerbitz, K. D. (1994) Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (5): 1063-1066 . |
5 | 8071952 | 1994 | Oostra, R.J., Bolhuis, P.A., Wijburg, F.A., Zorn-Ende, G., Bleeker-Wagemakers, E.M. (1994) Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome Journal of Medical Genetics . 31 (4): 280-286 . |
6 | 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 . |
7 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
8 | 7635294 | 1995 | Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 . |
9 | 8593537 | 1995 | Sartore, M., Grasso, M., Piccolo, G., Fasani, R., Bergamaschi, R., Malaspina, A., Ceroni, M., Kobayashi, M., Semeraro, A., Arbustini, E., Surrey, S., Fortina, P. (1995) Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in Italian patients presenting with sporadic bilateral optic neuritis Biochemical and Molecular Medicine . 56 (1): 45-51 . |
10 | 8680405 | 1995 | Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 . |
11 | 8899049 | 1996 | Mayr-Wohlfart, U., Paulus, C., Henneberg, A., Rodel, G. (1996) Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement Acta Neurologica Scandinavica . 94 (3): 167-171 . |
12 | 9150158 | 1997 | Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., De Negri, A., Scozzari, R. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484 American Journal of Human Genetics . 60 (5): 1107-1121 . |
13 | 10737123 | 1998 | Kosel, S., Grasbon-Frodl, E. M., Mautsch, U., Egensperger, R., von Eitzen, U., Frishman, D., Hofmann, S., Gerbitz, K. D., Mehraein, P., Graeber, M. B. (1998) Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease Neurogenetics . 1 (3): 197-204 . |
14 | 10545708 | 1999 | Went, L. N. (1999) Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities Cytogenetics and Cell Genetics . 86 (2): 153-156 . |
15 | 10936107 | 2000 | Ruiz-Pesini, E., Lapena, A. C., Diez-Sanchez, C., Perez-Martos, A., Montoya, J., Alvarez, E., Diaz, M., Urries, A., Montoro, L., Lopez-Perez, M. J., Enriquez, J. A. (2000) Human mtDNA Haplogroups associated with high or reduced spermatozoa motility American Journal of Human Genetics . 67 (3): 682-696 . |
16 | 11339587 | 2001 | Dogulu, C. F., Kansu, T., Seyrantepe, V., Ozguc, M., Topaloglu, H., Johns, D. R. (2001) Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population Eye (London) . 15 (Pt 2): 183-188 . |
17 | 16050984 | 2005 | Povalko, N., Zakharova, E., Rudenskaia, G., Akita, Y., Hirata, K., Toyojiro, M., Koga, Y. (2005) A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy Mitochondrion . 5 (3): 194-199 . |
18 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
19 | 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 . |
20 | 16759180 | 2006 | Crispim, D., Canani, L. H., Gross, J. L., Tschiedel, B., Souto, K. E., Roisenberg, I. (2006) The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes: an analysis of the m.4216T > C and m.4917A > G variants Annals of Human Genetics . 70 (Pt 4): 488-495 . |
21 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
22 | 17684475 | 2008 | Canter, J. A., Haas, D. W., Kallianpur, A. R., Ritchie, M. D., Robbins, G. K., Shafer, R. W., Clifford, D. B., Murdock, D. G., Hulgan, T. (2008) The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy The Pharmacogenomics Journal . 8 (1): 71-77 . |
23 | 18445251 | 2008 | Feder, J., Blech, I., Ovadia, O., Amar, S., Wainstein, J., Raz, I., Dadon, S., Arking, D. E., Glaser, B., Mishmar, D. (2008) Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications BMC Genomics . 9 (-): 198 . |
24 | 18461138 | 2008 | Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., Sternberg, P., Jr., Haines, J. L. (2008) Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration PLoS ONE . 3 (5): e2091 . |
25 | 19383124 | 2009 | Kofler, B., Mueller, E. E., Eder, W., Stanger, O., Maier, R., Weger, M., Haas, A., Winker, R., Schmut, O., Paulweber, B., Iglseder, B., Renner, W., Wiesbauer, M., Aigner, I., Santic, D., Zimmermann, F. A., Mayr, J. A., Sperl, W. (2009) Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study BMC Medical Genetics . 10 (-): 35 . |
26 | 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 . |
27 | 23563965 | 2013 | Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 . |