MITOMAP References for Mutation T-C at 4160

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1 2018041 1991 Howell, N., Kubacka, I., Xu, M., McCullough, D. A. (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation American Journal of Human Genetics . 48 (5): 935-942 .
2 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 .
3 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 .
4 7821467 1994 Mackey, D.A. (1994) Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy Eye . 8 (Pt 4): 431-436 .
5 7760326 1995 Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 .
6 27127184 2016 Hung, S. S., Van Bergen, N. J., Jackson, S., Liang, H., Mackey, D. A., Hernandez, D., Lim, S. Y., Hewitt, A. W., Trounce, I., Pebay, A., Wong, R. C. (2016) Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells Aging (Albany NY) . 8 (5): 945-957 .
7 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
8 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
9 34168607 2021 Peron, C., Maresca, A., Cavaliere, A., Iannielli, A., Broccoli, V., Carelli, V., Di Meo, I., Tiranti, V. (2021) Exploiting hiPSCs in Leber's hereditary optic neuropathy (LHON): present achievements and future perspectives Frontiers in Neurology . 12 (): 812 .
10 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 .
11 18647627 2008 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
12 19001017 2009 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
13 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 .
14 22258525 2012 van der Walt, E. M., Smuts, I., Taylor, R. W., Elson, J. L., Turnbull, D. M., Louw, R., van der Westhuizen, F. H. (2012) Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease European Journal of Human Genetics . 20 (6): 650-656 .
15 29249004 2018 Bursle, C., Riney, K., Stringer, J., Moore, D., Gole, G., Kearns, L. S., Mackey, D. A., Coman, D. (2018) Leber hereditary optic neuropathy and longitudinally extensive transverse myelitis JIMD Reports . 42 (): 53-60 .
16 28455970 2017 Wong, R. C. B., Lim, S. Y., Hung, S. S. C., Jackson, S., Khan, S., Van Bergen, N. J., De Smit, E., Liang, H. H., Kearns, L. S., Clarke, L., Mackey, D. A., Hewitt, A. W., Trounce, I. A., Pebay, A. (2017) Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy Aging (Albany NY) . 9 (4): 1341-1350 .
17 34670133 2021 Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N., Mackey, D. A. (2021) Establishing risk of vision loss in Leber hereditary optic neuropathy American Journal of Human Genetics . 108 (11): 2159-2170 .
18 8742999 1996 Chan, C., Mackey, D. A., Byrne, E. (1996) Sporadic Leber hereditary optic neuropathy in Australia and New Zealand Australian and New Zealand Journal of Ophthalmology . 24 (1): 7-14 .
19 19616643 2009 Maliniemi, P., Kervinen, M., Hassinen, I. E. (2009) Modeling of human pathogenic mutations in Escherichia coli complex I reveals a sensitive region in the fourth inside loop of NuoH Mitochondrion . 9 (6): 394-401 .