MITOMAP References for Mutation G-A at 3460

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1 1674640 1991 Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E.K., Savontaus, M.L. (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy American Journal of Human Genetics . 48 (6): 1147-1153 .
2 1928099 1991 Howell, N., Bindoff, L. A., McCullough, D. A., Kubacka, I., Poulton, J., Mackey, D., Taylor, L., Turnbull, D. M. (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees American Journal of Human Genetics . 49 (5): 939-950 .
3 1959619 1991 Majander, A., Huoponen, K., Savontaus, M.L., Nikoskelainen, E., Wikstrom, M. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON) FEBS Letters . 292 (40545): 289-292 .
4 1444915 1992 Johns, D. R., Smith, K. H., Miller, N. R. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation Archives of Ophthalmology . 110 (11): 1577-1581 .
5 1550131 1992 Johns, D. R. (1992) Mitochondrial ND-1 mutation in Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (4): 872-874 .
6 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 .
7 1734726 1992 Howell, N., McCullough, D., Bodis-Wollner, I. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (2): 443-446 .
8 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 .
9 8213820 1993 Johns, D. R., Neufeld, M. (1993) Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON) American Journal of Human Genetics . 53 (4): 916-20 .
10 8401538 1993 Norby, S. (1993) Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification Human Mutation . 2 (4): 309-313 .
11 8496715 1993 Paulus, W., Straube, A., Bauer, W., Harding, A., E. (1993) Central nervous system involvement in Leber's optic neuropathy Journal of Neurology . 240 (4): 251-253 .
12 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 .
13 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 .
14 7853025 1994 Govan, G.G., Smith, P.R., Kellar-Wood, H., Schapira, A.H., Harding, A.E. (1994) HLA class II genotypes in Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 126 (2): 193-196 .
15 7924787 1994 Jackson, M.J., Bindoff, L.A., Weber, K., Wilson, J.N., Ince, P., Alberti, K.G., Turnbull, D.M. (1994) Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness Diabetes Care . 17 (7): 728-733 .
16 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 .
17 8024249 1994 Kellar-Wood, H., Robertson, N., Govan, G.G., Compston, D.A., Harding, A.E. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis Annals of Neurology . 36 (1): 109-112 .
18 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 .
19 8195807 1994 Smith, P.R., Cooper, J.M., Govan, G.G., Harding, A.E., Schapira, A.H. (1994) Platelet mitochondrial function in Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 122 (1): 80-83 .
20 8270249 1994 Juvonen, V., Huoponen, K., Syvanen, A.C., Nikoskelainen, E., Savontaus, M.L. (1994) Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing Human Genetics . 93 (1): 16-20 .
21 7599218 1995 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
22 7611298 1995 Harding, A.E., Sweeney, M.G., Govan, G.G., Riordan-Eva, P. (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation American Journal of Human Genetics . 57 (1): 77-86 .
23 7629530 1995 Nikoskelainen, E.K., Marttila, R.J., Huoponen, K., Juvonen, V., Lamminen, T., Sonninen, P., Savontaus, M.L. (1995) Leber's 'plus': neurological abnormalities in patients with Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 59 (2): 160-164 .
24 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 .
25 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 .
26 7735876 1995 Riordan-Eva, P., Sanders, M.D., Govan, G.G., Sweeney, M.G., Da Costa, J., Harding, A.E. (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain . 118 (Pt 2): 319-337 .
27 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 .
28 8556281 1995 Meire, F. M., Van Coster, R., Cochaux, P., Obermaier-Kusser, B., Candaele, C., Martin, J. J. (1995) Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations Ophthalmic Genetics . 16 (3): 119-126 .
29 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 .
30 8571959 1996 Ghosh, S.S., Fahy, E., Bodis-Wollner, I., Sherman, J., Howell, N. (1996) Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing American Journal of Human Genetics . 58 (2): 325-334 .
31 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 .
32 8659512 1996 Chalmers, R.M., Davis, M.B., Sweeney, M.G., Wood, N.W., Harding, A.E. (1996) Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (1): 103-108 .
33 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 .
34 8931573 1996 Charlmers, R. M., Harding, A. E. (1996) A case-control study of Leber's hereditary optic neuropathy Brain . 119 (Pt 5): 1481-1486 .
35 8941270 1996 Melberg, A., Arnell, H., Dahl, N., Stalberg, E., Raininko, R., Oldfors, A., Bakall, B., Lundberg, P. O., Holme, E. (1996) Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism Muscle and Nerve . 19 (12): 1561-1569 .
36 9012411 1997 Brown, M.D., Sun, F., Wallace, D.C. (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage American Journal of Human Genetics . 60 (2): 381-387 .
37 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 .
38 9302261 1997 Hofmann, S., Jaksch, M., Bezold, R., Mertens, S., Aholt, S., Paprotta, A., Gerbitz, K.D. (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease Human Molecular Genetics . 6 (11): 1835-1846 .
39 9412783 1997 Lamminen, T., Huoponen, K., Sistonen, P., Juvonen, V., Lahermo, P., Aula, P., Nikoskelainen, E., Savontaus, M.L. (1997) mtDNA haplotype analysis in Finnish families with Leber Hereditary Optic Neuroretinopathy European Journal of Human Genetics . 5 (5): 271-279 .
40 9852675 1998 Matsumoto, M., Hayasaka, S., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1998) Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778 Journal of Human Genetics . 43 (4): 242-245 .
41 10426138 1999 Brown, M. D. (1999) The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 1-5 .
42 10426140 1999 Cock, H.R., Cooper, J.M., Schapira, A.H. (1999) Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 10-17 .
43 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 .
44 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 .
45 10939569 2000 Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M. (2000) The epidemiology of pathogenic mitochondrial DNA mutations Annals of Neurology . 48 (2): 188-193 .
46 11001192 2000 Mashima, Y., Kigasawa, K., Wakakura, M., Oguchi, Y. (2000) Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? Journal of Neuro-ophthalmology . 20 (3): 166-170 .
47 11074292 2000 Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 .
48 11124301 2000 Kerrison, J. B., Miller, N. R., Hsu, F., Beaty, T. H., Maumenee, I. H., Smith, K. H., Savino, P. J., Stone, E. M., Newman, N. J. (2000) A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy American Journal of Ophthalmology . 130 (6): 803-812 .
49 11329546 2001 Finsterer, J., Stollberger, C., Kopsa, W., Jaksch, M. (2001) Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy Canadian Journal of Cardiology . 17 (4): 464-466 .
50 11331900 2001 Smeitink, J., van den Heuvel, L., DiMauro, S. (2001) The genetics and pathology of oxidative phosphorylation Nature Reviews. Genetics . 2 (5): 342-352 .
51 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 .
52 11523562 2001 Huoponen, K. (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics . 3 (3): 119-125 .
53 14750573 2001 Acaroglu, G., Kansu, T., Dogulu, C. F. (2001) Visual recovery patterns in children with Leber's hereditary optic neuropathy International Ophthalmology . 24 (6): 349-355 .
54 12023431 2002 Lodi, R., Carelli, V., Cortelli, P., Iotti, S., Valentino, M. L., Barboni, P., Pallotti, F., Montagna, P., Barbiroli, B. (2002) Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 72 (6): 805-807 .
55 12205655 2002 Funalot, B., Reynier, P., Vighetto, A., Ranoux, D., Bonnefont, J. P., Godinot, C., Malthiery, Y., Mas, J.L. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy Annals of Neurology . 52 (3): 374-377 .
56 12409182 2002 Puomila, A., Viitanen, T., Savontaus, M. L., Nikoskelainen, E., Huoponen, K. (2002) Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families Journal of the Neurological Sciences . 205 (1): 41-45 .
57 12446713 2003 Ghelli, A., Zanna, C., Porcelli, A. M., Schapira, A. H., Martinuzzi, A., Carelli, V., Rugolo, M. (2003) Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium Journal of Biological Chemistry . 278 (6): 4145-4150 .
58 14671420 2004 Houshmand, M., Sanati, M. H., Rashedi, I., Sharifpanah, F., Asghari, E., Lotfi, J. (2004) Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran European Neurology . 51 (2): 68-71 .
59 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 .
60 15126312 2004 Houshmand, M., Sharifpanah, F., Tabasi, A., Sanati, M. H., Vakilian, M., Lavasani, S. H., Joughehdoust, S. (2004) Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients Annals of the New York Academy of Sciences . 1011 (-): 345-349 .
61 15282179 2004 Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G., Solaini, G. (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochimica et Biophysica Acta . 1658 (1-2): 89-94 .
62 15282189 2004 Carelli, V., Rugolo, M., Sgarbi, G., Ghelli, A., Zanna, C., Baracca, A., Lenaz, G., Napoli, E., Martinuzzi, A., Solaini, G. (2004) Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration Biochimica et Biophysica Acta . 1658 (40545): 172-179 .
63 15342361 2004 Beretta, S., Mattavelli, L., Sala, G., Tremolizzo, L., Schapira, A. H., Martinuzzi, A., Carelli, V., Ferrarese, C. (2004) Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines Brain . 127 (Pt 10): 2183-2192 .
64 15466086 2004 Scaglia, F., Towbin, J. A., Craigen, W. J., Belmont, J. W., Smith, E. O., Neish, S. R., Ware, S. M., Hunter, J. V., Fernbach, S. D., Vladutiu, G. D., Wong, L. J., Vogel, H. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics . 114 (4): 925-931 .
65 16120372 2004 Carrara, F., Chinnery, P. F., Man, P. Y. W., Zeviani, M., Tiranti, V. (2004) Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients Mitochondrion . 4 (1): 37-39 .
66 15629831 2005 Barboni, P., Savini, G., Valentino, M. L., Montagna, P., Cortelli, P., De Negri, A. M., Sadun, F., Bianchi, S., Longanesi, L., Zanini, M., de Vivo, A., Carelli, V. (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy Ophthalmology . 112 (1): 120-126 .
67 15629832 2005 Savini, G., Barboni, P., Valentino, M. L., Montagna, P., Cortelli, P., De Negri, A. M., Sadun, F., Bianchi, S., Longanesi, L., Zanini, M., Carelli, V. (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations Ophthalmology . 112 (1): 127-131 .
68 15638829 2005 Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 .
69 15720387 2005 Floreani, M., Napoli, E., Martinuzzi, A., Pantano, G., De Riva, V., Trevisan, R., Bisetto, E., Valente, L., Carelli, V., Dabbeni-Sala, F. (2005) Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy The FEBS Journal . 272 (5): 1124-1135 .
70 15728653 2005 Danielson, S. R., Carelli, V., Tan, G., Martinuzzi, A., Schapira, A. H., Savontaus, M. L., Cortopassi, G. A. (2005) Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process Brain . 128 (Pt 5): 1026-1037 .
71 15883259 2005 Baracca, A., Solaini, G., Sgarbi, G., Lenaz, G., Baruzzi, A., Schapira, A. H., Martinuzzi, A., Carelli, V. (2005) Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids Archives of Neurology . 62 (5): 730-736 .
72 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 .
73 16083845 2005 Newman, N. J. (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve American Journal of Ophthalmology . 140 (3): 517-523 .
74 16380918 2005 Hudson, G., Keers, S., Yu Wai Man, P., Griffiths, P., Huoponen, K., Savontaus, M. L., Nikoskelainen, E., Zeviani, M., Carrara, F., Horvath, R., Karcagi, V., Spruijt, L., de Coo, I. F., Smeets, H. J., Chinnery, P. F. (2005) Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder American Journal of Human Genetics . 77 (6): 1086-1091
75 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 .
76 16523671 2006 Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 .
77 16532388 2006 Carelli, V., Achilli, A., Valentino, M. L., Rengo, C., Semino, O., Pala, M., Olivieri, A., Mattiazzi, M., Pallotti, F., Carrara, F., Zeviani, M., Leuzzi, V., Carducci, C., Valle, G., Simionati, B., Mendieta, L., Salomao, S., Belfort, R., Sadun, A. A., Torroni, A. (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees American Journal of Human Genetics . 78 (4): 564-574 .
78 16564802 2006 Spruijt, L., Kolbach, D. N., de Coo, R. F., Plomp, A. S., Bauer, N. J., Smeets, H. J., de Die-Smulders, C. E. (2006) Influence of mutation type on clinical expression of Leber hereditary optic neuropathy American Journal of Ophthalmology . 141 (4): 676-682 .
79 16829155 2006 Yen, M. Y., Wang, A. G., Wei, Y. H. (2006) Leber's hereditary optic neuropathy: a multifactorial disease [Review] Progress in Retinal and Eye Research . 25 (4): 381-396 .
80 16972023 2006 Jia, X., Li, S., Xiao, X., Guo, X., Zhang, Q. (2006) Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy Journal of Human Genetics . 51 (10): 851-856 .
81 17003408 2006 Abu-Amero, K. K., Bosley, T. M. (2006) Mitochondrial abnormalities in patients with LHON-like optic neuropathies Investigative Ophthalmology and Visual Science . 47 (10): 4211-4220 .
82 17292333 2007 Petruzzella, V., Tessa, A., Torraco, A., Fattori, F., Dotti, M. T., Bruno, C., Cardaioli, E., Papa, S., Federico, A., Santorelli, F. M. (2007) The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 355 (1): 181-187 .
83 17406640 2007 Puomila, A., Hamalainen, P., Kivioja, S., Savontaus, M. L., Koivumaki, S., Huoponen, K., Nikoskelainen, E. (2007) Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland European Journal of Human Genetics . 15 (10): 1079-1089 .
84 17434142 2007 Tong, Y., Mao, Y., Zhou, X., Yang, L., Zhang, J., Cai, W., Zhao, F., Wang, X., Lu, F., Qu, J., Guan, M. X. (2007) The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 357 (2): 524-530 .
85 17479363 2007 Carelli, V., La Morgia, C., Iommarini, L., Carroccia, R., Mattiazzi, M., Sangiorgi, S., Farne, S., Maresca, A., Foscarini, B., Lanzi, L., Amadori, M., Bellan, M., Valentino, M. L. (2007) Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Bioscience Reports . 27 (40546): 173-184 .
86 17652639 2007 Genasetti, A., Valentino, M. L., Carelli, V., Vigetti, D., Viola, M., Karousou, E. G., Melzi d'Eril, G. V., De Luca, G., Passi, A., Pallotti, F. (2007) Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach Journal of Molecular Diagnostics . 9 (4): 538-545 .
87 17886296 2007 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
88 17942074 2007 Ji, Y., Jia, X., Zhang, Q., Yao, Y. G. (2007) mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation Biochemical and Biophysical Research Communications . 364 (2): 238-242 .
89 18070226 2008 Yu-Wai-Man, P., Elliott, C., Griffiths, P. G., Johnson, I. J., Chinnery, P. F. (2008) Investigation of auditory dysfunction in Leber hereditary optic neuropathy Acta Ophthalmologica (Copenhagen) . 86 (6): 630-633 .
90 18214789 2008 Eichhorn-Mulligan, K., Cestari, D. M. (2008) The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction Seminars in Ophthalmology . 23 (1): 27-37 .
91 18216301 2008 La Morgia, C., Achilli, A., Iommarini, L., Barboni, P., Pala, M., Olivieri, A., Zanna, C., Vidoni, S., Tonon, C., Lodi, R., Vetrugno, R., Mostacci, B., Liguori, R., Carroccia, R., Montagna, P., Rugolo, M., Torroni, A., Carelli, V. (2008) Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus Neurology . 70 (10): 762-770 .
92 18320530 2008 Nemes, A., De Coo, I. F., Spruijt, L., Smeets, H. J., Chinnery, P. F., Soliman, O. I., Geleijnse, M. L., Ten Cate, F. J. (2008) Is there alteration in aortic stiffness in Leber hereditary optic neuropathy? European Journal of Ophthalmology . 18 (2): 309-312 .
93 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
94 18647627 2008 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
95 18674747 2008 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
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