-
1
-
-
3543029271
-
Mitochondrial diseases
-
DiMauro S. Mitochondrial diseases. Biochim Biophys Acta. 1658 (2004) 80-88
-
(2004)
Biochim Biophys Acta.
, vol.1658
, pp. 80-88
-
-
DiMauro, S.1
-
2
-
-
20344366079
-
Mitochondrial DNA and disease
-
DiMauro S., and Davidzon G. Mitochondrial DNA and disease. Ann Med. 37 (2005) 222-232
-
(2005)
Ann Med.
, vol.37
, pp. 222-232
-
-
DiMauro, S.1
Davidzon, G.2
-
3
-
-
0037406049
-
Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
-
Carelli V., Giordano C., and d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 19 (2003) 257-262
-
(2003)
Trends Genet.
, vol.19
, pp. 257-262
-
-
Carelli, V.1
Giordano, C.2
d'Amati, G.3
-
4
-
-
0038238874
-
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
-
Taylor R.W., Giordano C., Davidson M.M., d'Amati G., Bain H., Hayes C.M., et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol. 41 (2003) 1786-1796
-
(2003)
J Am Coll Cardiol.
, vol.41
, pp. 1786-1796
-
-
Taylor, R.W.1
Giordano, C.2
Davidson, M.M.3
d'Amati, G.4
Bain, H.5
Hayes, C.M.6
-
5
-
-
0036100436
-
Modifier genes for hypertrophic cardiomyopathy
-
Marian A.J. Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol. 17 (2002) 242-252
-
(2002)
Curr Opin Cardiol.
, vol.17
, pp. 242-252
-
-
Marian, A.J.1
-
6
-
-
0035132566
-
A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice
-
Johnson K.R., Zheng Q.Y., Bykhovskaya Y., Spirina O., and Fischel-Ghodsian N. A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet. 27 (2001) 191-194
-
(2001)
Nat Genet.
, vol.27
, pp. 191-194
-
-
Johnson, K.R.1
Zheng, Q.Y.2
Bykhovskaya, Y.3
Spirina, O.4
Fischel-Ghodsian, N.5
-
8
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C., Santorelli F.M., D'Amati G., Bernucci P., DeBiase L., and DiMauro S. A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun. 213 (1995) 588-593
-
(1995)
Biochem Biophys Res Commun.
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.M.2
D'Amati, G.3
Bernucci, P.4
DeBiase, L.5
DiMauro, S.6
-
9
-
-
41149109085
-
Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy
-
Shankar S.P., Fingert J.H., Carelli V., Valentino M.L., King T.M., Daiger S.P., et al. Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy. Ophthalmic Genet. 29 (2008) 17-24
-
(2008)
Ophthalmic Genet.
, vol.29
, pp. 17-24
-
-
Shankar, S.P.1
Fingert, J.H.2
Carelli, V.3
Valentino, M.L.4
King, T.M.5
Daiger, S.P.6
-
10
-
-
34548124855
-
Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae
-
Wang X., Yan Q., and Guan M.X. Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. FEBS Lett. 581 (2007) 4228-4234
-
(2007)
FEBS Lett.
, vol.581
, pp. 4228-4234
-
-
Wang, X.1
Yan, Q.2
Guan, M.X.3
-
11
-
-
1942425120
-
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation
-
Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., et al. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol Genet Metab. 82 (2004) 27-32
-
(2004)
Mol Genet Metab.
, vol.82
, pp. 27-32
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
-
12
-
-
18444373246
-
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation
-
Giordano C., Pallotti F., Walker W.F., Checcarelli N., Musumeci O., Santorelli F., et al. Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. Biochem Biophys Res Commun. 293 (2002) 521-529
-
(2002)
Biochem Biophys Res Commun.
, vol.293
, pp. 521-529
-
-
Giordano, C.1
Pallotti, F.2
Walker, W.F.3
Checcarelli, N.4
Musumeci, O.5
Santorelli, F.6
-
13
-
-
34247860605
-
The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss
-
Wei Q.P., Zhou X., Yang L., Sun Y.H., Zhou J., Li G., et al. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Biochem Biophys Res Commun. 357 (2007) 910-916
-
(2007)
Biochem Biophys Res Commun.
, vol.357
, pp. 910-916
-
-
Wei, Q.P.1
Zhou, X.2
Yang, L.3
Sun, Y.H.4
Zhou, J.5
Li, G.6
-
14
-
-
20644456260
-
Novel cell lines derived from adult human ventricular cardiomyocytes
-
Davidson M.M., Nesti C., Palenzuela L., Walker W.F., Hernandez E., Protas L., et al. Novel cell lines derived from adult human ventricular cardiomyocytes. J Mol Cell Cardiol. 39 (2005) 133-147
-
(2005)
J Mol Cell Cardiol.
, vol.39
, pp. 133-147
-
-
Davidson, M.M.1
Nesti, C.2
Palenzuela, L.3
Walker, W.F.4
Hernandez, E.5
Protas, L.6
-
15
-
-
0037029123
-
Differences in nuclear gene expression between cells containing monomer and dimer mitochondrial genomes
-
Clark K.M., Brown T.A., Davidson M.M., Papadopoulou L.C., and Clayton D.A. Differences in nuclear gene expression between cells containing monomer and dimer mitochondrial genomes. Gene. 286 (2002) 91-104
-
(2002)
Gene.
, vol.286
, pp. 91-104
-
-
Clark, K.M.1
Brown, T.A.2
Davidson, M.M.3
Papadopoulou, L.C.4
Clayton, D.A.5
-
16
-
-
0033539912
-
Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations
-
Sobreira C., King M.P., Davidson M.M., Park H., Koga Y., and Miranda A.F. Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations. Biochem Biophys Res Commun. 266 (1999) 179-186
-
(1999)
Biochem Biophys Res Commun.
, vol.266
, pp. 179-186
-
-
Sobreira, C.1
King, M.P.2
Davidson, M.M.3
Park, H.4
Koga, Y.5
Miranda, A.F.6
-
17
-
-
10644245921
-
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations
-
Pallotti F., Baracca A., Hernandez-Rosa E., Walker W.F., Solaini G., Lenaz G., et al. Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations. Biochem J. 384 (2004) 287-293
-
(2004)
Biochem J.
, vol.384
, pp. 287-293
-
-
Pallotti, F.1
Baracca, A.2
Hernandez-Rosa, E.3
Walker, W.F.4
Solaini, G.5
Lenaz, G.6
-
18
-
-
0028291367
-
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
-
Birch-Machin MA Briggs H.L., Saborido A.A., Bindoff L.A., and Turnbull D.M. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. Biochem Med Metab Biol. 51 (1994) 35-42
-
(1994)
Biochem Med Metab Biol.
, vol.51
, pp. 35-42
-
-
Birch-Machin MA Briggs, H.L.1
Saborido, A.A.2
Bindoff, L.A.3
Turnbull, D.M.4
-
19
-
-
0037090630
-
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
-
Salviati L., Hernandez-Rosa E., Walker W.F., Sacconi S., DiMauro S., Schon E.A., et al. Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J. 363 (2002) 321-327
-
(2002)
Biochem J.
, vol.363
, pp. 321-327
-
-
Salviati, L.1
Hernandez-Rosa, E.2
Walker, W.F.3
Sacconi, S.4
DiMauro, S.5
Schon, E.A.6
-
20
-
-
0033133413
-
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid
-
Casali C., d'Amati G., Bernucci P., DeBiase L., Autore C., Santorelli F.M., et al. Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. J Am Coll Cardiol. 33 (1999) 1584-1589
-
(1999)
J Am Coll Cardiol.
, vol.33
, pp. 1584-1589
-
-
Casali, C.1
d'Amati, G.2
Bernucci, P.3
DeBiase, L.4
Autore, C.5
Santorelli, F.M.6
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