-
1
-
-
25444439861
-
GenBank
-
Benson D.A., Karsch-Mizrachi I., Lipman D.J., Ostell J., Sayers E.W. GenBank. Nucleic Acids Res. 2011, 39:D32-D37.
-
(2011)
Nucleic Acids Res.
, vol.39
-
-
Benson, D.A.1
Karsch-Mizrachi, I.2
Lipman, D.J.3
Ostell, J.4
Sayers, E.W.5
-
2
-
-
78650444977
-
Evolutionary history of chimpanzees inferred from complete mitochondrial genomes
-
Bjork A., Liu W., Wertheim J.O., Hahn B.H., Worobey M. Evolutionary history of chimpanzees inferred from complete mitochondrial genomes. Mol. Biol. Evol. 2011, 28:615-623.
-
(2011)
Mol. Biol. Evol.
, vol.28
, pp. 615-623
-
-
Bjork, A.1
Liu, W.2
Wertheim, J.O.3
Hahn, B.H.4
Worobey, M.5
-
3
-
-
78650836057
-
Mitochondrial genome sequences effectively reveal the phylogeny of Hylobates gibbons
-
Chan Y.-C., Roos C., Inoue-Murayama M., Inoue E., Shih C.-C., Pei K.J.-C., Vigilant L. Mitochondrial genome sequences effectively reveal the phylogeny of Hylobates gibbons. PLoS One 2010, 5:e14419.
-
(2010)
PLoS One
, vol.5
-
-
Chan, Y.-C.1
Roos, C.2
Inoue-Murayama, M.3
Inoue, E.4
Shih, C.-C.5
Pei, K.J.-C.6
Vigilant, L.7
-
4
-
-
0036135162
-
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
-
Corona P., Lamantea E., Greco M., Carrara F., Agostino A., Guidetti D., Dotti M.T., Mariotti C., Zeviani M. Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann. Neurol. 2002, 51:118-122.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 118-122
-
-
Corona, P.1
Lamantea, E.2
Greco, M.3
Carrara, F.4
Agostino, A.5
Guidetti, D.6
Dotti, M.T.7
Mariotti, C.8
Zeviani, M.9
-
5
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
DiMauro S., Schon E.A. Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 2001, 106:18-26.
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 18-26
-
-
DiMauro, S.1
Schon, E.A.2
-
6
-
-
0013084592
-
Human mitochondrial tRNAs in health and disease
-
Florentz C., Sohm B., Tryoen-Toth P., Putz J., Sissler M. Human mitochondrial tRNAs in health and disease. Cell. Mol. Life Sci. 2003, 60:1356-1375.
-
(2003)
Cell. Mol. Life Sci.
, vol.60
, pp. 1356-1375
-
-
Florentz, C.1
Sohm, B.2
Tryoen-Toth, P.3
Putz, J.4
Sissler, M.5
-
7
-
-
0025666322
-
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y.-I., Nonaka I., Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.-I.1
Nonaka, I.2
Horai, S.3
-
8
-
-
0033833303
-
A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment
-
Hutchin T.P., Parker M.J., Young I.D., Davis A.C., Pulleyn L.J., Deeble J., Lench N.J., Markham A.F., Mueller R.F. A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment. J. Med. Genet. 2000, 37:692-694.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 692-694
-
-
Hutchin, T.P.1
Parker, M.J.2
Young, I.D.3
Davis, A.C.4
Pulleyn, L.J.5
Deeble, J.6
Lench, N.J.7
Markham, A.F.8
Mueller, R.F.9
-
9
-
-
15644370475
-
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene
-
Jaksch M., Klopstock T., Kurlemann G., Dorner M., Hofmann S., Kleinle S., Hegemann S., Weissert M., Muller-Hocker J., Pongratz D., Gerbitz K.D. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann. Neurol. 1998, 44:635-640.
-
(1998)
Ann. Neurol.
, vol.44
, pp. 635-640
-
-
Jaksch, M.1
Klopstock, T.2
Kurlemann, G.3
Dorner, M.4
Hofmann, S.5
Kleinle, S.6
Hegemann, S.7
Weissert, M.8
Muller-Hocker, J.9
Pongratz, D.10
Gerbitz, K.D.11
-
10
-
-
58149191272
-
TRNAdb 2009: compilation of tRNA sequences and tRNA genes
-
Jühling F., Mörl M., Hartmann R.K., Sprinzl M., Stadler P.F., Pütz J. tRNAdb 2009: compilation of tRNA sequences and tRNA genes. Nucleic Acids Res. 2009, 37:D159-D162.
-
(2009)
Nucleic Acids Res.
, vol.37
-
-
Jühling, F.1
Mörl, M.2
Hartmann, R.K.3
Sprinzl, M.4
Stadler, P.F.5
Pütz, J.6
-
11
-
-
36448991500
-
Clustal W and Clustal X version 2.0
-
Larkin M.A., Blackshields G., Brown N.P., Chenna R., McGettigan P.A., McWilliam H., Valentin F., Wallace I.M., Wilm A., Lopez R., Thompson J.D., Gibson T.J., Higgins D.G. Clustal W and Clustal X version 2.0. Bioinformatics 2007, 23:2947-2948.
-
(2007)
Bioinformatics
, vol.23
, pp. 2947-2948
-
-
Larkin, M.A.1
Blackshields, G.2
Brown, N.P.3
Chenna, R.4
McGettigan, P.A.5
McWilliam, H.6
Valentin, F.7
Wallace, I.M.8
Wilm, A.9
Lopez, R.10
Thompson, J.D.11
Gibson, T.J.12
Higgins, D.G.13
-
12
-
-
7244243930
-
Proving pathogenicity: when evolution is not enough
-
McFarland R., Taylor R.W., Elson J.L., Lightowlers R.N., Turnbull D.M., Howell N. Proving pathogenicity: when evolution is not enough. Am. J. Med. Genet. A 2004, 131A:107-108.
-
(2004)
Am. J. Med. Genet. A
, vol.131 A
, pp. 107-108
-
-
McFarland, R.1
Taylor, R.W.2
Elson, J.L.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
13
-
-
32944470243
-
Sequence variation in mitochondrial complex I genes: mutation or polymorphism?
-
Mitchell A.L., Elson J.L., Howell N., Taylor R.W., Turnbull D.M. Sequence variation in mitochondrial complex I genes: mutation or polymorphism?. J. Med. Genet. 2006, 43:175-179.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 175-179
-
-
Mitchell, A.L.1
Elson, J.L.2
Howell, N.3
Taylor, R.W.4
Turnbull, D.M.5
-
14
-
-
65149104318
-
The diversity present in 5140 human mitochondrial genomes
-
Pereira L., Freitas F., Fernandes V., Pereira J.B., Costa M.D., Costa S., Maximo V., Macaulay V., Rocha R., Samuels D.C. The diversity present in 5140 human mitochondrial genomes. Am. J. Hum. Genet. 2009, 84:628-640.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 628-640
-
-
Pereira, L.1
Freitas, F.2
Fernandes, V.3
Pereira, J.B.4
Costa, M.D.5
Costa, S.6
Maximo, V.7
Macaulay, V.8
Rocha, R.9
Samuels, D.C.10
-
15
-
-
34447525139
-
Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures
-
Putz J., Dupuis B., Sissler M., Florentz C. Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures. RNA 2007, 13:1184-1190.
-
(2007)
RNA
, vol.13
, pp. 1184-1190
-
-
Putz, J.1
Dupuis, B.2
Sissler, M.3
Florentz, C.4
-
16
-
-
79958155953
-
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy
-
Sakiyama Y., Okamoto Y., Higuchi I., Inamori Y., Sangatsuda Y., Michizono K., Watanabe O., Hatakeyama H., Goto Y., Arimura K., Takashima H. A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy. Acta Neuropathol. 2011, 121:775-783.
-
(2011)
Acta Neuropathol.
, vol.121
, pp. 775-783
-
-
Sakiyama, Y.1
Okamoto, Y.2
Higuchi, I.3
Inamori, Y.4
Sangatsuda, Y.5
Michizono, K.6
Watanabe, O.7
Hatakeyama, H.8
Goto, Y.9
Arimura, K.10
Takashima, H.11
-
17
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
-
Shoffner J.M., Lott M.T., Lezza A.M.S., Seibel P., Ballinger S.W., Wallace D.C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 1990, 61:931-937.
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.S.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
18
-
-
0029979139
-
A novel mitochondrial DNA point mutation in the tRNAIle Gene is associated with progressive external ophthalmoplegia
-
Silvestri G., Servidei S., Rana M., Ricci E., Spinazzola A., Paris E., Tonali P. A novel mitochondrial DNA point mutation in the tRNAIle Gene is associated with progressive external ophthalmoplegia. Biochem. Biophys. Res. Commun. 1996, 220:623-627.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.220
, pp. 623-627
-
-
Silvestri, G.1
Servidei, S.2
Rana, M.3
Ricci, E.4
Spinazzola, A.5
Paris, E.6
Tonali, P.7
-
19
-
-
0026660498
-
Mitochondrial transfer RNAIlE mutation in fatal cardiomyopathy
-
Taniike M., Fukushima H., Yanagihara I., Tsukamoto H., Tanaka J., Fujimura H., Nagai T., Sano T., Yamaoka K., Inui K., Okada S. Mitochondrial transfer RNAIlE mutation in fatal cardiomyopathy. Biochem. Biophys. Res. Commun. 1992, 186:47-53.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.186
, pp. 47-53
-
-
Taniike, M.1
Fukushima, H.2
Yanagihara, I.3
Tsukamoto, H.4
Tanaka, J.5
Fujimura, H.6
Nagai, T.7
Sano, T.8
Yamaoka, K.9
Inui, K.10
Okada, S.11
-
20
-
-
77949458883
-
Mitochondrial evidence for multiple radiations in the evolutionary history of small apes
-
Thinh V.N., Mootnick A.R., Geissmann T., Li M., Ziegler T., Agil M., Moisson P., Tilo N., Walter L., Roos C. Mitochondrial evidence for multiple radiations in the evolutionary history of small apes. BMC Evol. Biol. 2010, 10:74.
-
(2010)
BMC Evol. Biol.
, vol.10
, pp. 74
-
-
Thinh, V.N.1
Mootnick, A.R.2
Geissmann, T.3
Li, M.4
Ziegler, T.5
Agil, M.6
Moisson, P.7
Tilo, N.8
Walter, L.9
Roos, C.10
-
21
-
-
0035091959
-
Tubulointerstitial nephritis associated with a novel mitochondrial point mutation
-
Tzen C.-Y., Tsai J.-D., Wu T.-Y., Chen B.-F., Chen M.-L., Lin S.-P., Chen S.-C. Tubulointerstitial nephritis associated with a novel mitochondrial point mutation. Kidney Int. 2001, 59:846-854.
-
(2001)
Kidney Int.
, vol.59
, pp. 846-854
-
-
Tzen, C.-Y.1
Tsai, J.-D.2
Wu, T.-Y.3
Chen, B.-F.4
Chen, M.-L.5
Lin, S.-P.6
Chen, S.-C.7
-
22
-
-
64049089255
-
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
-
van Oven M., Kayser M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum. Mutat. 2009, 30:E386-E394.
-
(2009)
Hum. Mutat.
, vol.30
-
-
van Oven, M.1
Kayser, M.2
-
23
-
-
80054689158
-
Mitochondrial tRNA mutations and disease
-
Yarham J.W., Elson J.L., Blakely E.L., McFarland R., Taylor R.W. Mitochondrial tRNA mutations and disease. WIREs RNA 2010, 1:304-324.
-
(2010)
WIREs RNA
, vol.1
, pp. 304-324
-
-
Yarham, J.W.1
Elson, J.L.2
Blakely, E.L.3
McFarland, R.4
Taylor, R.W.5
-
24
-
-
80054697979
-
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations
-
Yarham J.W., Al-Dosary M., Blakely E.L., Alston C.L., Taylor R.W., Elson J.L., McFarland R. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum. Mutat. 2011, 32:1319-1325.
-
(2011)
Hum. Mutat.
, vol.32
, pp. 1319-1325
-
-
Yarham, J.W.1
Al-Dosary, M.2
Blakely, E.L.3
Alston, C.L.4
Taylor, R.W.5
Elson, J.L.6
McFarland, R.7
-
25
-
-
77956483301
-
Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans
-
Zsurka G., Kudina T., Peeva V., Hallmann K., Elger C.E., Khrapko K., Kunz W.S. Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans. BMC Evol. Biol. 2010, 10:270.
-
(2010)
BMC Evol. Biol.
, vol.10
, pp. 270
-
-
Zsurka, G.1
Kudina, T.2
Peeva, V.3
Hallmann, K.4
Elger, C.E.5
Khrapko, K.6
Kunz, W.S.7
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