Index | PMID | Date | Reference |
---|---|---|---|
1 | 1322638 | 1992 | Brown, M.D., Yang, C.-C., Trounce, I., Torroni, A., Lott, M.T., Wallace, D.C. (1992) A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I American Journal of Human Genetics . 51 (2): 378-385 . |
2 | 1732158 | 1992 | Brown, M.D., Voljavec, A.S., Lott, M.T., Torroni, A., Yang, C.-C., Wallace, D.C. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy Genetics . 130 (1): 163-173 . |
3 | 7901141 | 1993 | Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, J.L. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Human Genetics . 92 (4): 379-384 . |
4 | 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 . |
5 | 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 . |
6 | 8060346 | 1994 | Reynier, P., Figarella-Branger, D., Serratrice, G., Charvet, B., Malthiery, Y. (1994) Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy Biochemical and Biophysical Research Communications . 202 (3): 1606-1611 . |
7 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
8 | 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 . |
9 | 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 . |
10 | 8600429 | 1996 | Nikoskelainen, E. K., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., Savontaus, M. L. (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology . 103 (3): 504-514 . |
11 | 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 . |
12 | 10577941 | 1999 | Pandya, A., Xia, X. J., Erdenetungalag, R., Amendola, M., Landa, B., Radnaabazar, J., Dangaasuren, B., Van Tuyle, G., Nance, W. E. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia American Journal of Human Genetics . 65 (6): 1803-1806 . |
13 | 10739773 | 2000 | Lopez-Bigas, N., Rabionet, R., Martinez, E., Bravo, O., Girons, J., Borragan, A., Pellicer, M., Arbones, M. L., Estivill, X. (2000) Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation American Journal of Human Genetics . 66 (4): 1465-1467 . |
14 | 12749053 | 2003 | Howell, N., Herrnstadt, C., Shults, C., Mackey, D. A. (2003) Low penetrance of the 14484 LHON mutation when it arises in a non- haplogroup J mtDNA background American Journal of Medical Genetics . 119A (2): 147-151 . |
15 | 16152638 | 2005 | Yuan, H., Qian, Y., Xu, Y., Cao, J., Bai, L., Shen, W., Ji, F., Zhang, X., Kang, D., Mo, J. Q., Greinwald, J. H., Han, D., Zhai, S., Young, W. Y., Guan, M. X. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss American Journal of Medical Genetics . 138A (2): 133-140 . |
16 | 16361254 | 2006 | Yan, H., Zareen, N., Levinger, L. (2006) Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure Journal of Biological Chemistry . 281 (7): 3926-3935 . |
17 | 16500624 | 2006 | Zhu, Y., Qian, Y., Tang, X., Wang, J., Yang, L., Liao, Z., Li, R., Ji, J., Li, Z., Chen, J., Choo, D. I., Lu, J., Guan, M. X. (2006) Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families Biochemical and Biophysical Research Communications . 342 (3): 843-850 . |
18 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
19 | 17698030 | 2007 | Yuan, H., Chen, J., Liu, X., Cheng, J., Wang, X., Yang, L., Yang, S., Cao, J., Kang, D., Dai, P., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2007) Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss Biochemical and Biophysical Research Communications . 362 (1): 94-100 . |
20 | 19371214 | 2009 | Rydzanicz, M., Wrobel, M., Cywinska, K., Froehlich, D., Gawecki, W., Szyfter, W., Szyfter, K. (2009) Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes Genetic Testing and Molecular Biomarkers . 13 (2): 167-172 . |
21 | 19818876 | 2010 | Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 . |
22 | 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 . |
23 | 21056478 | 2011 | Kokotas, H., Grigoriadou, M., Yang, L., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjaerg, L., Guan, M. X., Petersen, M. B. (2011) Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss International Journal of Pediatric Otorhinolaryngology . 75 (1): 89-94 . |
24 | 21621438 | 2011 | Rydzanicz, M., Cywinska, K., Wrobel, M., Pollak, A., Gawecki, W., Wojsyk-Banaszak, I., Lechowicz, U., Mueller-Malesinska, M., Oldak, M., Ploski, R., Skarzynski, H., Szyfter, K., Szyfter, W. (2011) The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients Molecular Genetics and Metabolism . 104 (1-2): 153-159 . |