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 | 1463007 | 1992 | Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 . |
3 | 1634041 | 1992 | Brown, M.D., Voljavec, A.S., Lott, M.T., MacDonald, I., Wallace, D.C. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases FASEB Journal . 6 (10): 2791-2799 . |
4 | 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 . |
5 | 7814218 | 1994 | Salmaggi, A., Carrara, F., Zeviani, M. (1994) Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA International Journal of Neuroscience . 77 (40606): 261-266 . |
6 | 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 . |
7 | 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 . |
8 | 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 . |
9 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
10 | 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 . |
11 | 7763260 | 1995 | Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C., Lugaresi, E. (1995) MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells Biochemical and Biophysical Research Communications . 210 (3): 880-888 . |
12 | 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 . |
13 | 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 . |
14 | 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 . |
15 | 8755941 | 1996 | Mackey, D. A., Oostra, R. J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., Harding, A. E., Govan, G., Bolhuis, P. A., Norby, S. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (2): 481-485 . |
16 | 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 . |
17 | 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 . |
18 | 9719386 | 1998 | Chinnery, P. F., Turnbull, D. M., Howell, N., Andrews, R. M. (1998) Mitochondrial DNA mutations and pathogenicity Journal of Medical Genetics . 35 (8): 701-702 . |
19 | 9832034 | 1998 | Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T., Gerbitz, K. D. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy Journal of Medical Genetics . 35 (11): 895-900 . |
20 | 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 . |
21 | 10424809 | 1999 | Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 . |
22 | 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 . |
23 | 10894993 | 2000 | Finsterer, J., Bittner, R., Bodingbauer, M., Eichberger, H., Stollberger, C., Blazek, G. (2000) Complex mitochondriopathy associated with 4 mtDNA transitions European Neurology . 44 (1): 37-41 . |
24 | 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 . |
25 | 11935318 | 2002 | Brown, M. D., Starikovskaya, Y. B., Derbeneva, O., Hosseini, S., Allen, J. C., Mikhailovskaya, I. E., Sukernik, R. I., Wallace, D. C. (2002) The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J Human Genetics . 110 (2): 130-138 . |
26 | 12150954 | 2002 | Fauser, S., Luberichs, J., Besch, D., Leo-Kottler, B. (2002) Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 295 (2): 342-347 . |
27 | 15338331 | 2004 | Mostafaie, N., Rossmanith, W., Hombauer, H., Dechat, T., Raffelsberger, T., Bauer, K., Worofka, B., Kittl, E., Hofmann, J., Hejtman, M., Kirchmeyr, W., Schreiber, W., Weissgram, S., Jungwirth, S., Fischer, P., Bittner, R., Huber, K. (2004) Mitochondrial genotype and risk for Alzheimer's disease: cross-sectional data from the Vienna-Transdanube-Aging "VITA" study Journal of Neural Transmission . 111 (9): 1155-1165 . |
28 | 15786469 | 2005 | Pyle, A., Foltynie, T., Tiangyou, W., Lambert, C., Keers, S. M., Allcock, L. M., Davison, J., Lewis, S. J., Perry, R. H., Barker, R., Burn, D. J., Chinnery, P. F. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD Annals of Neurology . 57 (4): 564-567 . |
29 | 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 . |
30 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
31 | 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 . |
32 | 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 . |
33 | 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 . |
34 | 21067478 | 2010 | Bosley, T. M., Abu-Amero, K. K. (2010) Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies Ophthalmic Genetics . 31 (4): 163-172 . |
35 | 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 . |
36 | 24002810 | 2013 | Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 . |
37 | 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 . |
38 | 29444077 | 2018 | Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F., Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A., Carelli, V. (2018) Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy PLoS Genetics . 14 (2): e1007210 . |
39 | 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 . |
40 | 30831606 | 2019 | Lazdinyte, S., Schorderet, D. F., Schaller, A., Valmaggia, C., Todorova, M. G. (2019) Analysis of inherited optic neuropathies Klinische Monatsblatter fur Augenheilkunde . 236 (4): 451-461 . |