MITOMAP References for Mutation T-C at 14484

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1 1417830 1992 Johns, D. R., Neufeld, M. J., Park, R. D. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 187 (3): 1551-1557 .
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 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 .
4 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 .
5 8470982 1993 Johns, D. R., Heher, K. L., Miller, N. R., Smith, K. H. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation Archives of Ophthalmology . 111 (4): 495-498 .
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 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 .
8 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 .
9 7877803 1994 Hrynchak, P. K., Spafford, M. M. (1994) Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation Optometry and Vision Science . 71 (10): 604-612 .
10 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 .
11 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 .
12 7599218 1995 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
13 7604366 1995 Hedges, T.R., Sedwick, L.A., Newman, N.J. (1995) Two brothers with bilateral optic neuropathy Survey of Ophthalmology . 39 (5): 417-424 .
14 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 .
15 7612556 1995 Wakakura, M., Yokoe, J. (1995) Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy British Journal of Ophthalmology . 79 (5): 442-446 .
16 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 .
17 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 .
18 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 .
19 7823072 1995 Morrissey, S.P., Borruat, F.X., Miller, D.H., Moseley, I.F., Sweeney, M.G., Govan, G.G., Kelly, M.A., Francis, D.A., Harding, A.E., McDonald, W.I. (1995) Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies Journal of Neurology, Neurosurgery and Psychiatry . 58 (1): 70-74 .
20 8533781 1995 Cock, H. R., Cooper, J. M., Schapira, A. H. (1995) The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity American Journal of Human Genetics . 57 (6): 1501-1502 .
21 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 .
22 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 .
23 8659531 1996 Torroni, A., Carelli, V., Petrozzi, M., Terracina, M., Barboni, P., Malpassi, P., Wallace, D. C., Scozzari, R. (1996) Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (1): 248-252 .
24 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 .
25 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 .
26 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 .
27 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 .
28 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 .
29 9177303 1997 Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. (1997) Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy Biochemical and Biophysical Research Communications . 234 (2): 511-515 .
30 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 .
31 9339703 1997 Biousse, V., Brown, M.D., Newman, N.J., Allen, J.C., Rosenfeld, J., Meola, G., Wallace, D.C. (1997) De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy Neurology . 49 (4): 1136-1138 .
32 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 .
33 9484365 1998 Macmillan, C., Kirkham, T., Fu, K., Allison, V.,ermann, E., Chitayat, D., Fortier, D., Gans, M., Hare, H., Quercia, N., Zackon, D., Shoubridge, E.A. (1998) Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy Neurology . 50 (2): 417-422 .
34 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 .
35 10072046 1999 Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., Degli Esposti, M. (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy Annals of Neurology . 45 (3): 320-328 .
36 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 .
37 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 .
38 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 .
39 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 .
40 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 .
41 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 .
42 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 .
43 11450909 2001 Warner, J. E., Ries, K. M. (2001) Optic neuropathy in a patient with AIDS Journal of Neuro-ophthalmology . 21 (2): 92-94 .
44 11504997 2001 Luzhansky, J. Z., Pierce, A. B., Hoy, J. F., Hall, A. J. (2001) Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity AIDS . 15 (12): 1588-1589 .
45 11523562 2001 Huoponen, K. (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics . 3 (3): 119-125 .
46 11579587 2001 Yamada, K., Mashima, Y., Hiida, Y., Oguchi, Y. (2001) [DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital] Nippon Ganka Gakkai Zasshi . 105 (9): 608-613 .
47 11754070 2001 Brown, M. D., Allen, J. C., Van Stavern, G. P., Newman, N. J., Wallace, D. C. (2001) Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations American Journal of Medical Genetics . 104 (4): 331-338 .
48 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
49 12112086 2002 Valentino, M. L., Avoni, P., Barboni, P., Pallotti, F., Rengo, C., Torroni, A., Bellan, M., Baruzzi, A., Carelli, V. (2002) Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy Annals of Neurology . 51 (6): 774-778 .
50 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 .
51 12379308 2002 Carelli, V., Vergani, L., Bernazzi, B., Zampieron, C., Bucchi, L., Valentino, M., Rengo, C., Torroni, A., Martinuzzi, A. (2002) Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1588 (1): 7-14 .
52 12436196 2002 Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. (2002) Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy Journal of Human Genetics . 47 (11): 594-604 .
53 12464728 2002 Newman, N. J. (2002) From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers Journal of Neuro-ophthalmology . 22 (4): 257-261 .
54 12464729 2002 Howell, N., Miller, N. R., Mackey, D. A., Arnold, A., Herrnstadt, C., Williams, I. M., Kubacka, I. (2002) Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations Journal of Neuro-ophthalmology . 22 (4): 262-269 .
55 16120317 2002 Chinnery, P. F. (2002) Inheritance of mitochondrial disorders Mitochondrion . 2 (40545): 149-55 .
56 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 .
57 12711217 2003 Carelli, V., Giordano, C., d'Amati, G. (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction Trends in Genetics . 19 (5): 257-262 .
58 12724691 2003 Mackey, D. A., Fingert, J. H., Luzhansky, J. Z., McCluskey, P. J., Howell, N., Hall, A. J., Pierce, A. B., Hoy, J. F. (2003) Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus Eye . 17 (3): 312-317 .
59 12749053 2003 Howell, N., Herrnstadt, C., Shults, C., Mackey, D. A. (2003) Low penetrance of the 14484 LHON mutation when it arises in a non- haplogroup J mtDNA background American Journal of Medical Genetics . 119A (2): 147-151 .
60 12807863 2003 Sorajja, P., Sweeney, M. G., Chalmers, R., Sachdev, B., Syrris, P., Hanna, M., Wood, N. D., McKenna, W. J., Elliott, P. M. (2003) Cardiac abnormalities in patients with Leber's hereditary optic neuropathy Heart . 89 (7): 791-792 .
61 12827453 2003 Nishioka, T., Tasaki, M., Soemantri, A., Dyat, M., Susanto, J. C., Tamam, M., Sudarmanto, B., Ishida, T. (2003) Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia Journal of Human Genetics . 48 (7): 385-389 .
62 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 .
63 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 .
64 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 .
65 15272763 2004 Chuenkongkaew, W., Lertrit, P., Suphavilai, R. (2004) Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation The Southeast Asian Journal of Tropical Medicine and Public Health . 35 (1): 167-168 .
66 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 .
67 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 .
68 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 .
69 15467980 2004 Palanichamy, M. G., Sun, C., Agrawal, S., Bandelt, H. J., Kong, Q. P., Khan, F., Wang, C. Y., Chaudhuri, T. K., Palla, V., Zhang, Y. P. (2004) Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia American Journal of Human Genetics . 75 (6): 966-978 .
70 15548492 2004 Battisti, C., Formichi, P., Cardaioli, E., Bianchi, S., Mangiavacchi, P., Tripodi, S. A., Tosi, P., Federico, A. (2004) Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery, and Psychiatry . 75 (12): 1731-1736 .
71 15635488 2004 Nishioka, T., Soemantri, A., Ishida, T. (2004) mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers Journal of Human Genetics . 49 (12): 701-705 .
72 16120433 2004 Herrnstadt, C., Howell, N. (2004) An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders Mitochondrion . 4 (40669): 791-798 .
73 15483043 2005 Kovacs, G. G., Hoftberger, R., Majtenyi, K., Horvath, R., Barsi, P., Komoly, S., Lassmann, H., Budka, H., Jakab, G. (2005) Neuropathology of white matter disease in Leber's hereditary optic neuropathy Brain . 128 (Pt 1): 35-41 .
74 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 .
75 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 .
76 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 .
77 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 .
78 15954041 2005 Laberge, A. M., Jomphe, M., Houde, L., Vezina, H., Tremblay, M., Desjardins, B., Labuda, D., St-Hilaire, M., Macmillan, C., Shoubridge, E. A., Brais, B. (2005) A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians American Journal of Human Genetics . 77 (2): 313-317 .
79 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 .
80 16083845 2005 Newman, N. J. (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve American Journal of Ophthalmology . 140 (3): 517-523 .
81 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
82 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 .
83 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 .
84 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 .
85 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 .
86 16806060 2006 Sun, Y. H., Wei, Q. P., Zhou, X., Qian, Y., Zhou, J., Lu, F., Qu, J., Guan, M. X. (2006) Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families Biochemical and Biophysical Research Communications . 347 (1): 221-225 .
87 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 .
88 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 .
89 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 .
90 17334960 2007 Cardaioli, E., Da Pozzo, P., Gallus, G. N., Franceschini, R., Rufa, A., Dotti, M. T., Caporossi, A., Federico, A. (2007) Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption Journal of Neurology . 254 (2): 255-256 .
91 17403843 2007 Debray, F. G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J. C., Shoubridge, E. A., Robinson, B. H., Mitchell, G. A. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics . 119 (4): 722-733 .
92 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 .
93 17452034 2007 Wei, Q. P., Zhou, X., Yang, L., Sun, Y. H., Zhou, J., Li, G., Jiang, R., Lu, F., Qu, J., Guan, M. X. (2007) The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss Biochemical and Biophysical Research Communications . 357 (4): 910-916 .
94 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 .
95 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 .
96 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 .
97 17894548 2008 Patsi, J., Kervinen, M., Finel, M., Hassinen, I. E. (2008) Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme Biochemical Journal . 409 (1): 129-137 .
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