MITOMAP References for Mutation T-C at 4160

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Index PMID Date Reference
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 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 .
4 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 .
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 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 .
7 18647627 2008 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
8 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 .
9 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 .
10 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 .
11 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 .
12 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 .