MITOMAP References for Mutation G-A at 15812

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Index PMID Date Reference
1 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 .
2 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 .
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 1764087 1991 Johns, D. R., Neufeld, M. J. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 181 (3): 1358-1364 .
5 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 .
6 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 .
7 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 .
8 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 .
9 7599218 1995 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
10 9561330 1998 Haferkamp, O., Rosenau, W., Scheuerle, A., Pietrczyk, C., Skowronek, P., Rodel, G. (1998) Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations Clinical Neuropathology . 17 (2): 85-94 .
11 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 .
12 30369864 2018 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
13 15060117 2004 Man, P. Y., Howell, N., Mackey, D. A., Norby, S., Rosenberg, T., Turnbull, D. M., Chinnery, P. F. (2004) Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees Journal of Medical Genetics . 41 (4): e41 .
14 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 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 .
20 27217714 2016 Collins, D. W., Gudiseva, H. V., Trachtman, B., Bowman, A. S., Sagaser, A., Sankar, P., Miller-Ellis, E., Lehman, A., Addis, V., O'Brien, J. M. (2016) Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans Molecular Vision . 22 (): 454-471 .
21 32887465 2020 Dawod, P. G. A., Jancic, J., Marjanovic, A., Brankovic, M., Jankovic, M., Samardzic, J., Potkonjak, D., Djuric, V., Mesaros, S., Novakovic, I., Abdel Motaleb, F. I., Kostic, V. S., Nikolic, D. (2020) Whole mitochondrial genome analysis in Serbian cases of Leber's hereditary optic neuropathy Genes (Basel) . 11 (9): 1037 .