-
1
-
-
0037461342
-
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
-
Agostino A., Valletta L., Chinnery P.F., Ferrari G., Carrara F., Taylor R.W., Schaefer A.M., Turnbull D.M., Tiranti V., and Zeviani M. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 60 (2003) 1354-1356
-
(2003)
Neurology
, vol.60
, pp. 1354-1356
-
-
Agostino, A.1
Valletta, L.2
Chinnery, P.F.3
Ferrari, G.4
Carrara, F.5
Taylor, R.W.6
Schaefer, A.M.7
Turnbull, D.M.8
Tiranti, V.9
Zeviani, M.10
-
2
-
-
0033601201
-
Linkage disequilibrium and recombination in hominid mitochondrial DNA
-
Awadalla P., Eyre-Walker A., and Maynard Smith J. Linkage disequilibrium and recombination in hominid mitochondrial DNA. Science 286 (1999) 2524-2525
-
(1999)
Science
, vol.286
, pp. 2524-2525
-
-
Awadalla, P.1
Eyre-Walker, A.2
Maynard Smith, J.3
-
3
-
-
0026849690
-
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
-
Ballinger S.W., Shoffner J.M., Hedaya E.V., Trounce I., Polak M.A., Koontz D.A., and Wallace D.C. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat. Genet. 1 (1992) 11-15
-
(1992)
Nat. Genet.
, vol.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hedaya, E.V.3
Trounce, I.4
Polak, M.A.5
Koontz, D.A.6
Wallace, D.C.7
-
4
-
-
0035852868
-
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation
-
Bataillard M., Chatzoglou E., Rumbach L., Sternberg D., Tournade A., Laforet P., Jardel C., Maisonobe T., and Lombes A. Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology 56 (2001) 405-407
-
(2001)
Neurology
, vol.56
, pp. 405-407
-
-
Bataillard, M.1
Chatzoglou, E.2
Rumbach, L.3
Sternberg, D.4
Tournade, A.5
Laforet, P.6
Jardel, C.7
Maisonobe, T.8
Lombes, A.9
-
5
-
-
0037313092
-
Nuclear genetic control of mitochondrial DNA segregation
-
Epub 2003 Jan 21
-
Battersby B.J., Loredo-Osti J.C., and Shoubridge E.A. Nuclear genetic control of mitochondrial DNA segregation. Nat. Genet. 33 (2003) 183-186 Epub 2003 Jan 21
-
(2003)
Nat. Genet.
, vol.33
, pp. 183-186
-
-
Battersby, B.J.1
Loredo-Osti, J.C.2
Shoubridge, E.A.3
-
6
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender A., Krishnan K.J., Morris C.M., Taylor G.A., Reeve A.K., Perry R.H., Jaros E., Hersheson J.S., Betts J., Klopstock T., Taylor R.W., and Turnbull D.M. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet. 38 (2006) 515-517
-
(2006)
Nat. Genet.
, vol.38
, pp. 515-517
-
-
Bender, A.1
Krishnan, K.J.2
Morris, C.M.3
Taylor, G.A.4
Reeve, A.K.5
Perry, R.H.6
Jaros, E.7
Hersheson, J.S.8
Betts, J.9
Klopstock, T.10
Taylor, R.W.11
Turnbull, D.M.12
-
7
-
-
11444267614
-
Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography
-
Biggin A., Henke R., Bennetts B., Thorburn D.R., and Christodoulou J. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Mol. Genet. Metab. 84 (2005) 61-74
-
(2005)
Mol. Genet. Metab.
, vol.84
, pp. 61-74
-
-
Biggin, A.1
Henke, R.2
Bennetts, B.3
Thorburn, D.R.4
Christodoulou, J.5
-
8
-
-
0035231595
-
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues
-
Birch-Machin M.A., and Turnbull D.M. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods Cell Biol. 65 (2001) 97-117
-
(2001)
Methods Cell Biol.
, vol.65
, pp. 97-117
-
-
Birch-Machin, M.A.1
Turnbull, D.M.2
-
9
-
-
0017758576
-
Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle
-
Bogenhagen D.F., and Clayton D.A. Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle. Cell 11 (1977) 719-727
-
(1977)
Cell
, vol.11
, pp. 719-727
-
-
Bogenhagen, D.F.1
Clayton, D.A.2
-
10
-
-
0042157173
-
Concluding remarks: The mitochondrial DNA replication bubble has not burst
-
Bogenhagen D.F., and Clayton D.A. Concluding remarks: The mitochondrial DNA replication bubble has not burst. Trends Biochem. Sci. 28 (2003) 404-405
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 404-405
-
-
Bogenhagen, D.F.1
Clayton, D.A.2
-
11
-
-
0038109027
-
The mitochondrial DNA replication bubble has not burst
-
Bogenhagen D.F., and Clayton D.A. The mitochondrial DNA replication bubble has not burst. Trends Biochem. Sci. 28 (2003) 357-360
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 357-360
-
-
Bogenhagen, D.F.1
Clayton, D.A.2
-
12
-
-
0029996721
-
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S., Tanji K., Santorelli F.M., Hirano M., al-Jishi A., and DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 46 (1996) 1329-1334
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.M.3
Hirano, M.4
al-Jishi, A.5
DiMauro, S.6
-
13
-
-
0026621445
-
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Boulet L., Karpati G., and Shoubridge E.A. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet. 51 (1992) 1187-1200
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.A.3
-
14
-
-
0347695996
-
Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone
-
Epub 2003 Sep 23
-
Bowmaker M., Yang M.Y., Yasukawa T., Reyes A., Jacobs H.T., Huberman J.A., and Holt I.J. Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. J. Biol. Chem. 278 (2003) 50961-50969 Epub 2003 Sep 23
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 50961-50969
-
-
Bowmaker, M.1
Yang, M.Y.2
Yasukawa, T.3
Reyes, A.4
Jacobs, H.T.5
Huberman, J.A.6
Holt, I.J.7
-
15
-
-
0031885843
-
Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle
-
Brierley E.J., Johnson M.A., Lightowlers R.N., James O.F., and Turnbull D.M. Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle. Ann. Neurol. 43 (1998) 217-223
-
(1998)
Ann. Neurol.
, vol.43
, pp. 217-223
-
-
Brierley, E.J.1
Johnson, M.A.2
Lightowlers, R.N.3
James, O.F.4
Turnbull, D.M.5
-
16
-
-
26944500840
-
Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism
-
Brown T.A., Cecconi C., Tkachuk A.N., Bustamante C., and Clayton D.A. Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism. Genes Dev. 19 (2005) 2466-2476
-
(2005)
Genes Dev.
, vol.19
, pp. 2466-2476
-
-
Brown, T.A.1
Cecconi, C.2
Tkachuk, A.N.3
Bustamante, C.4
Clayton, D.A.5
-
17
-
-
8144221376
-
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
-
Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., and Fischel-Ghodsian N. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol. Genet. Metab. 83 (2004) 199-206
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 199-206
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
18
-
-
20444497908
-
Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia
-
Calabrese V., Lodi R., Tonon C., D'Agata V., Sapienza M., Scapagnini G., Mangiameli A., Pennisi G., Stella A.M., and Butterfield D.A. Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. J. Neurol. Sci. 233 (2005) 145-162
-
(2005)
J. Neurol. Sci.
, vol.233
, pp. 145-162
-
-
Calabrese, V.1
Lodi, R.2
Tonon, C.3
D'Agata, V.4
Sapienza, M.5
Scapagnini, G.6
Mangiameli, A.7
Pennisi, G.8
Stella, A.M.9
Butterfield, D.A.10
-
19
-
-
0034991798
-
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
-
Campos Y., Gamez J., Garcia A., Andreu A.L., Rubio J.C., Martin M.A., del Hoyo P., Navarro C., Cervera C., Garesse R., and Arenas J. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy. Neuromuscul. Disord. 11 (2001) 477-480
-
(2001)
Neuromuscul. Disord.
, vol.11
, pp. 477-480
-
-
Campos, Y.1
Gamez, J.2
Garcia, A.3
Andreu, A.L.4
Rubio, J.C.5
Martin, M.A.6
del Hoyo, P.7
Navarro, C.8
Cervera, C.9
Garesse, R.10
Arenas, J.11
-
20
-
-
0035933047
-
Epileptic phenotypes associated with mitochondrial disorders
-
Canafoglia L., Franceschetti S., Antozzi C., Carrara F., Farina L., Granata T., Lamantea E., Savoiardo M., Uziel G., Villani F., Zeviani M., and Avanzini G. Epileptic phenotypes associated with mitochondrial disorders. Neurology 56 (2001) 1340-1346
-
(2001)
Neurology
, vol.56
, pp. 1340-1346
-
-
Canafoglia, L.1
Franceschetti, S.2
Antozzi, C.3
Carrara, F.4
Farina, L.5
Granata, T.6
Lamantea, E.7
Savoiardo, M.8
Uziel, G.9
Villani, F.10
Zeviani, M.11
Avanzini, G.12
-
21
-
-
0035853011
-
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
-
Carrozzo R., Tessa A., Vazquez-Memije M.E., Piemonte F., Patrono C., Malandrini A., Dionisi-Vici C., Vilarinho L., Villanova M., Schagger H., Federico A., Bertini E., et al. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 56 (2001) 687-690
-
(2001)
Neurology
, vol.56
, pp. 687-690
-
-
Carrozzo, R.1
Tessa, A.2
Vazquez-Memije, M.E.3
Piemonte, F.4
Patrono, C.5
Malandrini, A.6
Dionisi-Vici, C.7
Vilarinho, L.8
Villanova, M.9
Schagger, H.10
Federico, A.11
Bertini, E.12
-
22
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., De Michele G., Filla A., Cocozza S., Marconi R., Durr A., Fontaine B., et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93 (1998) 973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernandez, P.6
De Michele, G.7
Filla, A.8
Cocozza, S.9
Marconi, R.10
Durr, A.11
Fontaine, B.12
-
23
-
-
0033516529
-
Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population
-
Chagnon P., Gee M., Filion M., Robitaille Y., Belouchi M., and Gauvreau D. Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population. Am. J. Med. Genet. 85 (1999) 20-30
-
(1999)
Am. J. Med. Genet.
, vol.85
, pp. 20-30
-
-
Chagnon, P.1
Gee, M.2
Filion, M.3
Robitaille, Y.4
Belouchi, M.5
Gauvreau, D.6
-
24
-
-
0021399823
-
Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA
-
Chang D.D., and Clayton D.A. Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA. Cell 36 (1984) 635-643
-
(1984)
Cell
, vol.36
, pp. 635-643
-
-
Chang, D.D.1
Clayton, D.A.2
-
25
-
-
0007662353
-
Priming of human mitochondrial DNA replication occurs at the light-strand promoter
-
Chang D.D., and Clayton D.A. Priming of human mitochondrial DNA replication occurs at the light-strand promoter. Proc. Natl. Acad. Sci. USA 82 (1985) 351-355
-
(1985)
Proc. Natl. Acad. Sci. USA
, vol.82
, pp. 351-355
-
-
Chang, D.D.1
Clayton, D.A.2
-
26
-
-
0022081437
-
Replication priming and transcription initiate from precisely the same site in mouse mitochondrial DNA
-
Chang D.D., Hauswirth W.W., and Clayton D.A. Replication priming and transcription initiate from precisely the same site in mouse mitochondrial DNA. EMBO J. 4 (1985) 1559-1567
-
(1985)
EMBO J.
, vol.4
, pp. 1559-1567
-
-
Chang, D.D.1
Hauswirth, W.W.2
Clayton, D.A.3
-
27
-
-
0033358580
-
Relaxed replication of mtDNA: A model with implications for the expression of disease
-
Chinnery P.F., and Samuels D.C. Relaxed replication of mtDNA: A model with implications for the expression of disease. Am. J. Hum. Genet. 64 (1999) 1158-1165
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1158-1165
-
-
Chinnery, P.F.1
Samuels, D.C.2
-
28
-
-
0030791665
-
Molecular pathology of MELAS and MERRF: The relationship between mutation load and clinical phenotype
-
Chinnery P.F., Howell N., Lightowlers R., and Turnbull D. Molecular pathology of MELAS and MERRF: The relationship between mutation load and clinical phenotype. Brain 120 (1997) 1713-1721
-
(1997)
Brain
, vol.120
, pp. 1713-1721
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.3
Turnbull, D.4
-
29
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
Chinnery P.F., Johnson M.A., Wardell T.M., Singh-Kler R., Hayes C., Brown D.T., Taylor R.W., Bindoff L.A., and Turnbull D.M. The epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol. 48 (2000) 188-193
-
(2000)
Ann. Neurol.
, vol.48
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
Singh-Kler, R.4
Hayes, C.5
Brown, D.T.6
Taylor, R.W.7
Bindoff, L.A.8
Turnbull, D.M.9
-
30
-
-
0034010157
-
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
-
Chinnery P.F., Taylor D.J., Brown D.T., Manners D., Styles P., and Lodi R. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo. Ann. Neurol. 47 (2000) 381-384
-
(2000)
Ann. Neurol.
, vol.47
, pp. 381-384
-
-
Chinnery, P.F.1
Taylor, D.J.2
Brown, D.T.3
Manners, D.4
Styles, P.5
Lodi, R.6
-
31
-
-
27644528408
-
Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes
-
Chinnery P.F., Elliott H.R., Patel S., Lambert C., Keers S.M., Durham S.E., McCarthy M.I., Hitman G.A., Hattersley A.T., and Walker M. Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet 366 (2005) 1650-1651
-
(2005)
Lancet
, vol.366
, pp. 1650-1651
-
-
Chinnery, P.F.1
Elliott, H.R.2
Patel, S.3
Lambert, C.4
Keers, S.M.5
Durham, S.E.6
McCarthy, M.I.7
Hitman, G.A.8
Hattersley, A.T.9
Walker, M.10
-
32
-
-
0034705419
-
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
-
Chomyn A., Enriquez J.A., Micol V., Fernandez-Silva P., and Attardi G. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J. Biol. Chem. 275 (2000) 19198-19209
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 19198-19209
-
-
Chomyn, A.1
Enriquez, J.A.2
Micol, V.3
Fernandez-Silva, P.4
Attardi, G.5
-
33
-
-
0019978703
-
Replication of animal mitochondrial DNA
-
Clayton D.A. Replication of animal mitochondrial DNA. Cell 28 (1982) 693-705
-
(1982)
Cell
, vol.28
, pp. 693-705
-
-
Clayton, D.A.1
-
34
-
-
0025885770
-
Replication and transcription of vertebrate mitochondrial DNA
-
Clayton D.A. Replication and transcription of vertebrate mitochondrial DNA. Annu. Rev. Cell Biol. 7 (1991) 453-478
-
(1991)
Annu. Rev. Cell Biol.
, vol.7
, pp. 453-478
-
-
Clayton, D.A.1
-
35
-
-
0027058592
-
Transcription and replication of animal mitochondrial DNAs
-
Clayton D.A. Transcription and replication of animal mitochondrial DNAs. Int. Rev. Cytol. 141 (1992) 217-232
-
(1992)
Int. Rev. Cytol.
, vol.141
, pp. 217-232
-
-
Clayton, D.A.1
-
36
-
-
8344259033
-
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
-
Coenen M.J., Antonicka H., Ugalde C., Sasarman F., Rossi R., Heister J.G., Newbold R.F., Trijbels F.J., van den Heuvel L.P., Shoubridge E.A., and Smeitink J.A. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351 (2004) 2080-2086
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 2080-2086
-
-
Coenen, M.J.1
Antonicka, H.2
Ugalde, C.3
Sasarman, F.4
Rossi, R.5
Heister, J.G.6
Newbold, R.F.7
Trijbels, F.J.8
van den Heuvel, L.P.9
Shoubridge, E.A.10
Smeitink, J.A.11
-
37
-
-
0034972303
-
High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection
-
Coller H.A., Khrapko K., Bodyak N.D., Nekhaeva E., Herrero-Jiminez P., and Thilly W.G. High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection. Nat. Genet. 28 (2001) 147-150
-
(2001)
Nat. Genet.
, vol.28
, pp. 147-150
-
-
Coller, H.A.1
Khrapko, K.2
Bodyak, N.D.3
Nekhaeva, E.4
Herrero-Jiminez, P.5
Thilly, W.G.6
-
38
-
-
11044238456
-
Heterologous mitochondrial DNA recombination in human cells
-
Epub 2004 Oct 20
-
D'Aurelio M., Gajewski C.D., Lin M.T., Mauck W.M., Shao L.Z., Lenaz G., Moraes C.T., and Manfredi G. Heterologous mitochondrial DNA recombination in human cells. Hum. Mol. Genet. 13 (2004) 3171-3179 Epub 2004 Oct 20
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 3171-3179
-
-
D'Aurelio, M.1
Gajewski, C.D.2
Lin, M.T.3
Mauck, W.M.4
Shao, L.Z.5
Lenaz, G.6
Moraes, C.T.7
Manfredi, G.8
-
39
-
-
0028818655
-
Clinical spectrum of the MELAS mutation in a large pedigree
-
Damian M.S., Seibel P., Reichmann H., Schachenmayr W., Laube H., Bachmann G., Wassill K.H., and Dorndorf W. Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol. Scand. 92 (1995) 409-415
-
(1995)
Acta Neurol. Scand.
, vol.92
, pp. 409-415
-
-
Damian, M.S.1
Seibel, P.2
Reichmann, H.3
Schachenmayr, W.4
Laube, H.5
Bachmann, G.6
Wassill, K.H.7
Dorndorf, W.8
-
40
-
-
0031906139
-
A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes
-
de Coo I.F., Sistermans E.A., de Wijs I.J., Catsman-Berrevoets C., Busch H.F., Scholte H.R., de Klerk J.B., van Oost B.A., and Smeets H.J. A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neurology 50 (1998) 293-295
-
(1998)
Neurology
, vol.50
, pp. 293-295
-
-
de Coo, I.F.1
Sistermans, E.A.2
de Wijs, I.J.3
Catsman-Berrevoets, C.4
Busch, H.F.5
Scholte, H.R.6
de Klerk, J.B.7
van Oost, B.A.8
Smeets, H.J.9
-
41
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
de Lonlay P., Valnot I., Barrientos A., Gorbatyuk M., Tzagoloff A., Taanman J.W., Benayoun E., Chretien D., Kadhom N., Lombes A., de Baulny H.O., Niaudet P., et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat. Genet. 29 (2001) 57-60
-
(2001)
Nat. Genet.
, vol.29
, pp. 57-60
-
-
de Lonlay, P.1
Valnot, I.2
Barrientos, A.3
Gorbatyuk, M.4
Tzagoloff, A.5
Taanman, J.W.6
Benayoun, E.7
Chretien, D.8
Kadhom, N.9
Lombes, A.10
de Baulny, H.O.11
Niaudet, P.12
-
42
-
-
10744225420
-
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
-
De Meirleir L., Seneca S., Damis E., Sepulchre B., Hoorens A., Gerlo E., Garcia Silva M.T., Hernandez E.M., Lissens W., and Van Coster R. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am. J. Med. Genet. A 121 (2003) 126-131
-
(2003)
Am. J. Med. Genet. A
, vol.121
, pp. 126-131
-
-
De Meirleir, L.1
Seneca, S.2
Damis, E.3
Sepulchre, B.4
Hoorens, A.5
Gerlo, E.6
Garcia Silva, M.T.7
Hernandez, E.M.8
Lissens, W.9
Van Coster, R.10
-
43
-
-
0032588047
-
Mitochondrial 3243 A→G mutation (MELAS mutation) associated with painful muscle stiffness
-
Deschauer M., Wieser T., Neudecker S., Lindner A., and Zierz S. Mitochondrial 3243 A→G mutation (MELAS mutation) associated with painful muscle stiffness. Neuromuscul. Disord. 9 (1999) 305-307
-
(1999)
Neuromuscul. Disord.
, vol.9
, pp. 305-307
-
-
Deschauer, M.1
Wieser, T.2
Neudecker, S.3
Lindner, A.4
Zierz, S.5
-
44
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
DiMauro S., and Schon E.A. Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 106 (2001) 18-26
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 18-26
-
-
DiMauro, S.1
Schon, E.A.2
-
45
-
-
2442431673
-
Mitochondrial transcription factor A regulates mtDNA copy number in mammals
-
Epub 2004 Mar 11
-
Ekstrand M.I., Falkenberg M., Rantanen A., Park C.B., Gaspari M., Hultenby K., Rustin P., Gustafsson C.M., and Larsson N.G. Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum. Mol. Genet. 13 (2004) 935-944 Epub 2004 Mar 11
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 935-944
-
-
Ekstrand, M.I.1
Falkenberg, M.2
Rantanen, A.3
Park, C.B.4
Gaspari, M.5
Hultenby, K.6
Rustin, P.7
Gustafsson, C.M.8
Larsson, N.G.9
-
46
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
. Epub 2005 Apr 22
-
Elpeleg O., Miller C., Hershkovitz E., Bitner-Glindzicz M., Bondi-Rubinstein G., Rahman S., Pagnamenta A., Eshhar S., and Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76 (2005) 1081-1086 . Epub 2005 Apr 22
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
Bitner-Glindzicz, M.4
Bondi-Rubinstein, G.5
Rahman, S.6
Pagnamenta, A.7
Eshhar, S.8
Saada, A.9
-
47
-
-
0035172154
-
Analysis of European mtDNAs for recombination
-
Elson J.L., Andrews R.M., Chinnery P.F., Lightowlers R.N., Turnbull D.M., and Howell N. Analysis of European mtDNAs for recombination. Am. J. Hum. Genet. 68 (2001) 145-153
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 145-153
-
-
Elson, J.L.1
Andrews, R.M.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
48
-
-
2542504498
-
The evolving diabetes burden in the United States
-
Engelgau M.M., Geiss L.S., Saaddine J.B., Boyle J.P., Benjamin S.M., Gregg E.W., Tierney E.F., Rios-Burrows N., Mokdad A.H., Ford E.S., Imperatore G., and Narayan K.M. The evolving diabetes burden in the United States. Ann. Intern. Med. 140 (2004) 945-950
-
(2004)
Ann. Intern. Med.
, vol.140
, pp. 945-950
-
-
Engelgau, M.M.1
Geiss, L.S.2
Saaddine, J.B.3
Boyle, J.P.4
Benjamin, S.M.5
Gregg, E.W.6
Tierney, E.F.7
Rios-Burrows, N.8
Mokdad, A.H.9
Ford, E.S.10
Imperatore, G.11
Narayan, K.M.12
-
49
-
-
0029059067
-
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
-
Enriquez J.A., Chomyn A., and Attardi G. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat. Genet. 10 (1995) 47-55
-
(1995)
Nat. Genet.
, vol.10
, pp. 47-55
-
-
Enriquez, J.A.1
Chomyn, A.2
Attardi, G.3
-
50
-
-
0032873641
-
Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees
-
Excoffier L., and Yang Z. Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees. Mol. Biol. Evol. 16 (1999) 1357-1368
-
(1999)
Mol. Biol. Evol.
, vol.16
, pp. 1357-1368
-
-
Excoffier, L.1
Yang, Z.2
-
51
-
-
0036648997
-
Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA
-
Falkenberg M., Gaspari M., Rantanen A., Trifunovic A., Larsson N.G., and Gustafsson C.M. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat. Genet. 31 (2002) 289-294
-
(2002)
Nat. Genet.
, vol.31
, pp. 289-294
-
-
Falkenberg, M.1
Gaspari, M.2
Rantanen, A.3
Trifunovic, A.4
Larsson, N.G.5
Gustafsson, C.M.6
-
52
-
-
0027163613
-
Ophthalmologic manifestations in MELAS syndrome
-
Fang W., Huang C.C., Lee C.C., Cheng S.Y., Pang C.Y., and Wei Y.H. Ophthalmologic manifestations in MELAS syndrome. Arch. Neurol. 50 (1993) 977-980
-
(1993)
Arch. Neurol.
, vol.50
, pp. 977-980
-
-
Fang, W.1
Huang, C.C.2
Lee, C.C.3
Cheng, S.Y.4
Pang, C.Y.5
Wei, Y.H.6
-
53
-
-
0036677381
-
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations
-
Farina L., Chiapparini L., Uziel G., Bugiani M., Zeviani M., and Savoiardo M. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. Am. J. Neuroradiol. 23 (2002) 1095-1100
-
(2002)
Am. J. Neuroradiol.
, vol.23
, pp. 1095-1100
-
-
Farina, L.1
Chiapparini, L.2
Uziel, G.3
Bugiani, M.4
Zeviani, M.5
Savoiardo, M.6
-
54
-
-
0037252462
-
Replication and transcription of mammalian mitochondrial DNA
-
Fernandez-Silva P., Enriquez J.A., and Montoya J. Replication and transcription of mammalian mitochondrial DNA. Exp. Physiol. 88 (2003) 41-56
-
(2003)
Exp. Physiol.
, vol.88
, pp. 41-56
-
-
Fernandez-Silva, P.1
Enriquez, J.A.2
Montoya, J.3
-
55
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
-
Epub 2005 Feb 2
-
Ferrari G., Lamantea E., Donati A., Filosto M., Briem E., Carrara F., Parini R., Simonati A., Santer R., and Zeviani M. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128 (2005) 723-731 Epub 2005 Feb 2
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
Filosto, M.4
Briem, E.5
Carrara, F.6
Parini, R.7
Simonati, A.8
Santer, R.9
Zeviani, M.10
-
56
-
-
0141484570
-
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
-
Filosto M., Mancuso M., Vives-Bauza C., Vila M.R., Shanske S., Hirano M., Andreu A.L., and DiMauro S. Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann. Neurol. 54 (2003) 524-526
-
(2003)
Ann. Neurol.
, vol.54
, pp. 524-526
-
-
Filosto, M.1
Mancuso, M.2
Vives-Bauza, C.3
Vila, M.R.4
Shanske, S.5
Hirano, M.6
Andreu, A.L.7
DiMauro, S.8
-
57
-
-
0023658329
-
Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements
-
Fisher R.P., Topper J.N., and Clayton D.A. Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements. Cell 50 (1987) 247-258
-
(1987)
Cell
, vol.50
, pp. 247-258
-
-
Fisher, R.P.1
Topper, J.N.2
Clayton, D.A.3
-
58
-
-
0039250954
-
Facile detection of mitochondrial DNA mutations in tumors and bodily fluids
-
Fliss M.S., Usadel H., Caballero O.L., Wu L., Buta M.R., Eleff S.M., Jen J., and Sidransky D. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science 287 (2000) 2017-2019
-
(2000)
Science
, vol.287
, pp. 2017-2019
-
-
Fliss, M.S.1
Usadel, H.2
Caballero, O.L.3
Wu, L.4
Buta, M.R.5
Eleff, S.M.6
Jen, J.7
Sidransky, D.8
-
60
-
-
10644229290
-
The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells
-
Epub 2004 Nov 4
-
Gaspari M., Falkenberg M., Larsson N.G., and Gustafsson C.M. The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells. EMBO J. 23 (2004) 4606-4614 Epub 2004 Nov 4
-
(2004)
EMBO J.
, vol.23
, pp. 4606-4614
-
-
Gaspari, M.1
Falkenberg, M.2
Larsson, N.G.3
Gustafsson, C.M.4
-
62
-
-
0025666322
-
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y., Nonaka I., and Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348 (1990) 651-653
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
63
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y., Nonaka I., and Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim. Biophys. Acta 1097 (1991) 238-240
-
(1991)
Biochim. Biophys. Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
64
-
-
0026664015
-
A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy
-
Goto Y., Tojo M., Tohyama J., Horai S., and Nonaka I. A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy. Ann. Neurol. 31 (1992) 672-675
-
(1992)
Ann. Neurol.
, vol.31
, pp. 672-675
-
-
Goto, Y.1
Tojo, M.2
Tohyama, J.3
Horai, S.4
Nonaka, I.5
-
65
-
-
0027935355
-
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Goto Y., Tsugane K., Tanabe Y., Nonaka I., and Horai S. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem. Biophys. Res. Commun. 202 (1994) 1624-1630
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.202
, pp. 1624-1630
-
-
Goto, Y.1
Tsugane, K.2
Tanabe, Y.3
Nonaka, I.4
Horai, S.5
-
66
-
-
0033619178
-
Muscle pain, fatigue, and mitochondriopathies
-
Griggs R.C., and Karpati G. Muscle pain, fatigue, and mitochondriopathies. N. Engl. J. Med. 341 (1999) 1077-1078
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1077-1078
-
-
Griggs, R.C.1
Karpati, G.2
-
67
-
-
0017802101
-
Failure to detect "cap" structures in mitochondrial DNA-coded poly(A)-containing RNA from HeLa cells
-
Grohmann K., Amairic F., Crews S., and Attardi G. Failure to detect "cap" structures in mitochondrial DNA-coded poly(A)-containing RNA from HeLa cells. Nucleic Acids Res. 5 (1978) 637-651
-
(1978)
Nucleic Acids Res.
, vol.5
, pp. 637-651
-
-
Grohmann, K.1
Amairic, F.2
Crews, S.3
Attardi, G.4
-
68
-
-
0031859395
-
Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease
-
Gu M., Cooper J.M., Taanman J.W., and Schapira A.H. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann. Neurol. 44 (1998) 177-186
-
(1998)
Ann. Neurol.
, vol.44
, pp. 177-186
-
-
Gu, M.1
Cooper, J.M.2
Taanman, J.W.3
Schapira, A.H.4
-
69
-
-
0035869153
-
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10 (2001) 573-580
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 573-580
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
71
-
-
0027288377
-
The mitochondrial DNA transfer RNA(Lys)A→G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
Hammans S.R., Sweeney M.G., Brockington M., Lennox G.G., Lawton N.F., Kennedy C.R., Morgan-Hughes J.A., and Harding A.E. The mitochondrial DNA transfer RNA(Lys)A→G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 116 (1993) 617-632
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Lennox, G.G.4
Lawton, N.F.5
Kennedy, C.R.6
Morgan-Hughes, J.A.7
Harding, A.E.8
-
72
-
-
0029077496
-
The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study
-
Hammans S.R., Sweeney M.G., Hanna M.G., Brockington M., Morgan-Hughes J.A., and Harding A.E. The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain 118 (1995) 721-734
-
(1995)
Brain
, vol.118
, pp. 721-734
-
-
Hammans, S.R.1
Sweeney, M.G.2
Hanna, M.G.3
Brockington, M.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
73
-
-
0029009729
-
Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A→G (MERRF) mutation: Relationship to proportion of mutant mitochondrial DNA
-
Hanna M.G., Nelson I.P., Morgan-Hughes J.A., and Harding A.E. Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A→G (MERRF) mutation: Relationship to proportion of mutant mitochondrial DNA. J. Neurol. Sci. 130 (1995) 154-160
-
(1995)
J. Neurol. Sci.
, vol.130
, pp. 154-160
-
-
Hanna, M.G.1
Nelson, I.P.2
Morgan-Hughes, J.A.3
Harding, A.E.4
-
74
-
-
9644254602
-
Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations
-
Hao R., Yao Y.N., Zheng Y.G., Xu M.G., and Wang E.D. Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations. FEBS Lett. 578 (2004) 135-139
-
(2004)
FEBS Lett.
, vol.578
, pp. 135-139
-
-
Hao, R.1
Yao, Y.N.2
Zheng, Y.G.3
Xu, M.G.4
Wang, E.D.5
-
75
-
-
0029011225
-
Mitochondrial DNA diseases: Genotype and phenotype in Leber's hereditary optic neuropathy
-
Harding A.E., Riordan-Eva P., and Govan G.G. Mitochondrial DNA diseases: Genotype and phenotype in Leber's hereditary optic neuropathy. Muscle Nerve 3 (1995) S82-S84
-
(1995)
Muscle Nerve
, vol.3
-
-
Harding, A.E.1
Riordan-Eva, P.2
Govan, G.G.3
-
76
-
-
0026775958
-
Free radical theory of aging
-
Harman D. Free radical theory of aging. Mutat. Res. 275 (1992) 257-266
-
(1992)
Mutat. Res.
, vol.275
, pp. 257-266
-
-
Harman, D.1
-
77
-
-
17044456392
-
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
-
He L., Chinnery P.F., Durham S.E., Blakely E.L., Wardell T.M., Borthwick G.M., Taylor R.W., and Turnbull D.M. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res. 30 (2002) e68
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
He, L.1
Chinnery, P.F.2
Durham, S.E.3
Blakely, E.L.4
Wardell, T.M.5
Borthwick, G.M.6
Taylor, R.W.7
Turnbull, D.M.8
-
78
-
-
0347286859
-
Somatic mitochondrial DNA mutations in adult-onset leukaemia
-
He L., Luo L., Proctor S.J., Middleton P.G., Blakely E.L., Taylor R.W., and Turnbull D.M. Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia 17 (2003) 2487-2491
-
(2003)
Leukemia
, vol.17
, pp. 2487-2491
-
-
He, L.1
Luo, L.2
Proctor, S.J.3
Middleton, P.G.4
Blakely, E.L.5
Taylor, R.W.6
Turnbull, D.M.7
-
79
-
-
11244279011
-
An Icelandic example of the impact of population structure on association studies
-
Helgason A., Yngvadottir B., Hrafnkelsson B., Gulcher J., and Stefansson K. An Icelandic example of the impact of population structure on association studies. Nat. Genet. 37 (2005) 90-95
-
(2005)
Nat. Genet.
, vol.37
, pp. 90-95
-
-
Helgason, A.1
Yngvadottir, B.2
Hrafnkelsson, B.3
Gulcher, J.4
Stefansson, K.5
-
80
-
-
18344366125
-
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
-
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., and Howell N. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am. J. Hum. Genet. 70 (2002) 1152-1171
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1152-1171
-
-
Herrnstadt, C.1
Elson, J.L.2
Fahy, E.3
Preston, G.4
Turnbull, D.M.5
Anderson, C.6
Ghosh, S.S.7
Olefsky, J.M.8
Beal, M.F.9
Davis, R.E.10
Howell, N.11
-
81
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M., Silvestri G., Blake D.M., Lombes A., Minetti C., Bonilla E., Hays A.P., Lovelace R.E., Butler I., Bertorini T.E., Threlkeld A.B., Mitsumoto H., et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44 (1994) 721-727
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
Lombes, A.4
Minetti, C.5
Bonilla, E.6
Hays, A.P.7
Lovelace, R.E.8
Butler, I.9
Bertorini, T.E.10
Threlkeld, A.B.11
Mitsumoto, H.12
-
83
-
-
0034598918
-
Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA
-
Holt I.J., Lorimer H.E., and Jacobs H.T. Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell 100 (2000) 515-524
-
(2000)
Cell
, vol.100
, pp. 515-524
-
-
Holt, I.J.1
Lorimer, H.E.2
Jacobs, H.T.3
-
84
-
-
28144454984
-
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
-
Epub 2005 Oct 11
-
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., et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am. J. Hum. Genet. 77 (2005) 1086-1091 Epub 2005 Oct 11
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 1086-1091
-
-
Hudson, G.1
Keers, S.2
Yu Wai Man, P.3
Griffiths, P.4
Huoponen, K.5
Savontaus, M.L.6
Nikoskelainen, E.7
Zeviani, M.8
Carrara, F.9
Horvath, R.10
Karcagi, V.11
Spruijt, L.12
-
85
-
-
0035404936
-
Leber hereditary optic neuropathy: Clinical and molecular genetic findings
-
Huoponen K. Leber hereditary optic neuropathy: Clinical and molecular genetic findings. Neurogenetics 3 (2001) 119-125
-
(2001)
Neurogenetics
, vol.3
, pp. 119-125
-
-
Huoponen, K.1
-
86
-
-
0017260560
-
Infantile diffuse cerebral degeneration with hepatic cirrhosis
-
Huttenlocher P.R., Solitare G.B., and Adams G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch. Neurol. 33 (1976) 186-192
-
(1976)
Arch. Neurol.
, vol.33
, pp. 186-192
-
-
Huttenlocher, P.R.1
Solitare, G.B.2
Adams, G.3
-
87
-
-
0028952052
-
Presentation and clinical investigation of mitochondrial respiratory chain disease
-
Jackson M.J., Schaefer J.A., Johnson M.A., Morris A.A.M., Turnbull D.M., and Bindoff L.A. Presentation and clinical investigation of mitochondrial respiratory chain disease. Brain 118 (1995) 339-357
-
(1995)
Brain
, vol.118
, pp. 339-357
-
-
Jackson, M.J.1
Schaefer, J.A.2
Johnson, M.A.3
Morris, A.A.M.4
Turnbull, D.M.5
Bindoff, L.A.6
-
89
-
-
17944367327
-
Mitochondrial mutations in early stage prostate cancer and bodily fluids
-
Jeronimo C., Nomoto S., Caballero O.L., Usadel H., Henrique R., Varzim G., Oliveira J., Lopes C., Fliss M.S., and Sidransky D. Mitochondrial mutations in early stage prostate cancer and bodily fluids. Oncogene 20 (2001) 5195-5198
-
(2001)
Oncogene
, vol.20
, pp. 5195-5198
-
-
Jeronimo, C.1
Nomoto, S.2
Caballero, O.L.3
Usadel, H.4
Henrique, R.5
Varzim, G.6
Oliveira, J.7
Lopes, C.8
Fliss, M.S.9
Sidransky, D.10
-
90
-
-
16044366597
-
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
-
Jin H., May M., Tranebjaerg L., Kendall E., Fontan G., Jackson J., Subramony S.H., Arena F., Lubs H., Smith S., Stevenson R., Schwartz C., et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat. Genet. 14 (1996) 177-180
-
(1996)
Nat. Genet.
, vol.14
, pp. 177-180
-
-
Jin, H.1
May, M.2
Tranebjaerg, L.3
Kendall, E.4
Fontan, G.5
Jackson, J.6
Subramony, S.H.7
Arena, F.8
Lubs, H.9
Smith, S.10
Stevenson, R.11
Schwartz, C.12
-
91
-
-
0035866352
-
Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations
-
Jones J.B., Song J.J., Hempen P.M., Parmigiani G., Hruban R.H., and Kern S.E. Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations. Cancer Res. 61 (2001) 1299-1304
-
(2001)
Cancer Res.
, vol.61
, pp. 1299-1304
-
-
Jones, J.B.1
Song, J.J.2
Hempen, P.M.3
Parmigiani, G.4
Hruban, R.H.5
Kern, S.E.6
-
92
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun A.S., Brown M.D., and Wallace D.C. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc. Natl. Acad. Sci. USA 91 (1994) 6206-6210
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
93
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J., Juselius J.K., Tiranti V., Kyttala A., Zeviani M., Comi G.P., Keranen S., Peltonen L., and Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289 (2000) 782-785
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
94
-
-
0035925906
-
A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations
-
Khogali S.S., Mayosi B.M., Beattie J.M., McKenna W.J., Watkins H., and Poulton J. A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations. Lancet 357 (2001) 1265-1267
-
(2001)
Lancet
, vol.357
, pp. 1265-1267
-
-
Khogali, S.S.1
Mayosi, B.M.2
Beattie, J.M.3
McKenna, W.J.4
Watkins, H.5
Poulton, J.6
-
95
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
King M.P., Koga Y., Davidson M., and Schon E.A. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol. Cell. Biol. 12 (1992) 480-490
-
(1992)
Mol. Cell. Biol.
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
Schon, E.A.4
-
96
-
-
4744344532
-
Mutations of the mitochondrial ND1 gene as a cause of MELAS
-
Kirby D.M., McFarland R., Ohtake A., Dunning C., Ryan M.T., Wilson C., Ketteridge D., Turnbull D.M., Thorburn D.R., and Taylor R.W. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J. Med. Genet. 41 (2004) 784-789
-
(2004)
J. Med. Genet.
, vol.41
, pp. 784-789
-
-
Kirby, D.M.1
McFarland, R.2
Ohtake, A.3
Dunning, C.4
Ryan, M.T.5
Wilson, C.6
Ketteridge, D.7
Turnbull, D.M.8
Thorburn, D.R.9
Taylor, R.W.10
-
97
-
-
0035882532
-
High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples
-
Kirches E., Krause G., Warich-Kirches M., Weis S., Schneider T., Meyer-Puttlitz B., Mawrin C., and Dietzmann K. High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples. Int. J. Cancer 93 (2001) 534-538
-
(2001)
Int. J. Cancer
, vol.93
, pp. 534-538
-
-
Kirches, E.1
Krause, G.2
Warich-Kirches, M.3
Weis, S.4
Schneider, T.5
Meyer-Puttlitz, B.6
Mawrin, C.7
Dietzmann, K.8
-
98
-
-
0030345755
-
Leber's hereditary optic neuropathy: Historical and contemporary considerations
-
Kleiner L., and Sherman J. Leber's hereditary optic neuropathy: Historical and contemporary considerations. Optom. Clin. 5 (1996) 77-112
-
(1996)
Optom. Clin.
, vol.5
, pp. 77-112
-
-
Kleiner, L.1
Sherman, J.2
-
99
-
-
1542677230
-
TWINKLE Has 5′→3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein
-
Epub 2003 Sep 15
-
Korhonen J.A., Gaspari M., and Falkenberg M. TWINKLE Has 5′→3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. J. Biol. Chem. 278 (2003) 48627-48632 Epub 2003 Sep 15
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 48627-48632
-
-
Korhonen, J.A.1
Gaspari, M.2
Falkenberg, M.3
-
100
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H., Campuzano V., Foury F., Dolle P., Cazzalini O., and Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat. Genet. 16 (1997) 345-351
-
(1997)
Nat. Genet.
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
101
-
-
33646351299
-
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
-
Kraytsberg Y., Kudryavtseva E., McKee A.C., Geula C., Kowall N.W., and Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet. 38 (2006) 518-520
-
(2006)
Nat. Genet.
, vol.38
, pp. 518-520
-
-
Kraytsberg, Y.1
Kudryavtseva, E.2
McKee, A.C.3
Geula, C.4
Kowall, N.W.5
Khrapko, K.6
-
102
-
-
22344456832
-
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
-
Kujoth G.C., Hiona A., Pugh T.D., Someya S., Panzer K., Wohlgemuth S.E., Hofer T., Seo A.Y., Sullivan R., Jobling W.A., Morrow J.D., Van Remmen H., et al. Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309 (2005) 481-484
-
(2005)
Science
, vol.309
, pp. 481-484
-
-
Kujoth, G.C.1
Hiona, A.2
Pugh, T.D.3
Someya, S.4
Panzer, K.5
Wohlgemuth, S.E.6
Hofer, T.7
Seo, A.Y.8
Sullivan, R.9
Jobling, W.A.10
Morrow, J.D.11
Van Remmen, H.12
-
103
-
-
0020680904
-
Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
-
Langston J.W., Ballard P., Tetrud J.W., and Irwin I. Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219 (1983) 979-980
-
(1983)
Science
, vol.219
, pp. 979-980
-
-
Langston, J.W.1
Ballard, P.2
Tetrud, J.W.3
Irwin, I.4
-
104
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J. Neurol. Neurosurg. Psychiatry 14 (1951) 216-221
-
(1951)
J. Neurol. Neurosurg. Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
105
-
-
0030664064
-
Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease
-
Lightowlers R.N., Chinnery P.F., Turnbull D.M., and Howell N. Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease. Trends Genet. 13 (1997) 450-455
-
(1997)
Trends Genet.
, vol.13
, pp. 450-455
-
-
Lightowlers, R.N.1
Chinnery, P.F.2
Turnbull, D.M.3
Howell, N.4
-
106
-
-
0037235874
-
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
-
Liolitsa D., Rahman S., Benton S., Carr L.J., and Hanna M.G. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?. Ann. Neurol. 53 (2003) 128-132
-
(2003)
Ann. Neurol.
, vol.53
, pp. 128-132
-
-
Liolitsa, D.1
Rahman, S.2
Benton, S.3
Carr, L.J.4
Hanna, M.G.5
-
107
-
-
18844421618
-
Protein import into mitochondria: Origins and functions today (review)
-
Lister R., Hulett J.M., Lithgow T., and Whelan J. Protein import into mitochondria: Origins and functions today (review). Mol. Membr. Biol. 22 (2005) 87-100
-
(2005)
Mol. Membr. Biol.
, vol.22
, pp. 87-100
-
-
Lister, R.1
Hulett, J.M.2
Lithgow, T.3
Whelan, J.4
-
108
-
-
0033613262
-
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
-
Lodi R., Cooper J.M., Bradley J.L., Manners D., Styles P., Taylor D.J., and Schapira A.H. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc. Natl. Acad. Sci. USA 96 (1999) 11492-11495
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 11492-11495
-
-
Lodi, R.1
Cooper, J.M.2
Bradley, J.L.3
Manners, D.4
Styles, P.5
Taylor, D.J.6
Schapira, A.H.7
-
109
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen J.L., Smeitink J.A., Trijbels J.M., Janssen A.J., Triepels R.H., Sengers R.C., and van den Heuvel L.P. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects. Hum. Mutat. 15 (2000) 123-134
-
(2000)
Hum. Mutat.
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
van den Heuvel, L.P.7
-
110
-
-
33646859687
-
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia
-
Epub 2006 May 4
-
Longley M.J., Clark S., Yu Wai Man C., Hudson G., Durham S.E., Taylor R.W., Nightingale S., Turnbull D.M., Copeland W.C., and Chinnery P.F. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am. J. Hum. Genet. 78 (2006) 1026-1034 Epub 2006 May 4
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 1026-1034
-
-
Longley, M.J.1
Clark, S.2
Yu Wai Man, C.3
Hudson, G.4
Durham, S.E.5
Taylor, R.W.6
Nightingale, S.7
Turnbull, D.M.8
Copeland, W.C.9
Chinnery, P.F.10
-
111
-
-
0032568610
-
Localization of the Wilson's disease protein product to mitochondria
-
Lutsenko S., and Cooper M.J. Localization of the Wilson's disease protein product to mitochondria. Proc. Natl. Acad. Sci. USA 95 (1998) 6004-6009
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 6004-6009
-
-
Lutsenko, S.1
Cooper, M.J.2
-
112
-
-
0026989344
-
Leber hereditary optic neuropathy in Australia
-
Mackey D.A., and Buttery R.G. Leber hereditary optic neuropathy in Australia. Aust. NZ. J. Ophthalmol. 20 (1992) 177-184
-
(1992)
Aust. NZ. J. Ophthalmol.
, vol.20
, pp. 177-184
-
-
Mackey, D.A.1
Buttery, R.G.2
-
113
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
-
Majamaa K., Moilanen J.S., Uimonen S., Remes A.M., Salmela P.I., Karppa M., Majamaa-Volti K.A.M., Rusanen H., Sorri M., Peuhkurinen K.J., and Hassinen I.E. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am. J. Hum. Genet. 63 (1998) 447-454
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
Remes, A.M.4
Salmela, P.I.5
Karppa, M.6
Majamaa-Volti, K.A.M.7
Rusanen, H.8
Sorri, M.9
Peuhkurinen, K.J.10
Hassinen, I.E.11
-
114
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the North East of England
-
Man P.Y., Griffiths P.G., Brown D.T., Howell N., Turnbull D.M., and Chinnery P.F. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am. J. Hum. Genet. 72 (2003) 333-339
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 333-339
-
-
Man, P.Y.1
Griffiths, P.G.2
Brown, D.T.3
Howell, N.4
Turnbull, D.M.5
Chinnery, P.F.6
-
115
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H., Szargel R., Labay V., Elpeleg O., Saada A., Shalata A., Anbinder Y., Berkowitz D., Hartman C., Barak M., Eriksson S., and Cohen N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 29 (2001) 337-341
-
(2001)
Nat. Genet.
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
Eriksson, S.11
Cohen, N.12
-
116
-
-
0036242518
-
Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines
-
Margineantu D.H., Gregory Cox W., Sundell L., Sherwood S.W., Beechem J.M., and Capaldi R.A. Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines. Mitochondrion 1 (2002) 425-435
-
(2002)
Mitochondrion
, vol.1
, pp. 425-435
-
-
Margineantu, D.H.1
Gregory Cox, W.2
Sundell, L.3
Sherwood, S.W.4
Beechem, J.M.5
Capaldi, R.A.6
-
117
-
-
0017133453
-
Genetic and evolutionary consequences of symbiosis
-
Margulis L. Genetic and evolutionary consequences of symbiosis. Exp. Parasitol. 39 (1976) 277-349
-
(1976)
Exp. Parasitol.
, vol.39
, pp. 277-349
-
-
Margulis, L.1
-
118
-
-
0026685812
-
Correlation between clinical and molecular features in two MELAS families
-
Martinuzzi A., Bartolomei L., Carrozzo R., Mostacciuolo M., Carbonin C., Toso V., Ciafaloni E., Shanske S., DiMauro S., and Angelini C. Correlation between clinical and molecular features in two MELAS families. J. Neurol. Sci. 113 (1992) 222-229
-
(1992)
J. Neurol. Sci.
, vol.113
, pp. 222-229
-
-
Martinuzzi, A.1
Bartolomei, L.2
Carrozzo, R.3
Mostacciuolo, M.4
Carbonin, C.5
Toso, V.6
Ciafaloni, E.7
Shanske, S.8
DiMauro, S.9
Angelini, C.10
-
119
-
-
0020072795
-
Mechanism of replication of bacteriophage phi X174 XIX. Initiation of phi X174 viral strand DNA synthesis at internal sites on the genome
-
Matthes M., Weisbeek P.J., and Denhardt D.T. Mechanism of replication of bacteriophage phi X174 XIX. Initiation of phi X174 viral strand DNA synthesis at internal sites on the genome. J. Virol. 42 (1982) 301-305
-
(1982)
J. Virol.
, vol.42
, pp. 301-305
-
-
Matthes, M.1
Weisbeek, P.J.2
Denhardt, D.T.3
-
120
-
-
0036478952
-
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
-
McFarland R., Clark K.M., Morris A.A., Taylor R.W., Macphail S., Lightowlers R.N., and Turnbull D.M. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat. Genet. 30 (2002) 145-146
-
(2002)
Nat. Genet.
, vol.30
, pp. 145-146
-
-
McFarland, R.1
Clark, K.M.2
Morris, A.A.3
Taylor, R.W.4
Macphail, S.5
Lightowlers, R.N.6
Turnbull, D.M.7
-
122
-
-
9144222664
-
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
-
McFarland R., Kirby D.M., Fowler K.J., Ohtake A., Ryan M.T., Amor D.J., Fletcher J.M., Dixon J.W., Collins F.A., Turnbull D.M., Taylor R.W., and Thorburn D.R. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann. Neurol. 55 (2004) 58-64
-
(2004)
Ann. Neurol.
, vol.55
, pp. 58-64
-
-
McFarland, R.1
Kirby, D.M.2
Fowler, K.J.3
Ohtake, A.4
Ryan, M.T.5
Amor, D.J.6
Fletcher, J.M.7
Dixon, J.W.8
Collins, F.A.9
Turnbull, D.M.10
Taylor, R.W.11
Thorburn, D.R.12
-
123
-
-
12144289616
-
Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation
-
McFarland R., Schaefer A.M., Gardner J.L., Lynn S., Hayes C.M., Barron M.J., Walker M., Chinnery P.F., Taylor R.W., and Turnbull D.M. Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation. Ann. Neurol. 55 (2004) 478-484
-
(2004)
Ann. Neurol.
, vol.55
, pp. 478-484
-
-
McFarland, R.1
Schaefer, A.M.2
Gardner, J.L.3
Lynn, S.4
Hayes, C.M.5
Barron, M.J.6
Walker, M.7
Chinnery, P.F.8
Taylor, R.W.9
Turnbull, D.M.10
-
124
-
-
0347721039
-
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
-
McFarland R., Taylor R.W., Chinnery P.F., Howell N., and Turnbull D.M. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul. Disord. 14 (2004) 162-166
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 162-166
-
-
McFarland, R.1
Taylor, R.W.2
Chinnery, P.F.3
Howell, N.4
Turnbull, D.M.5
-
125
-
-
0035430788
-
Failure of the ubiquitin-proteasome system in Parkinson's disease
-
McNaught K.S., Olanow C.W., Halliwell B., Isacson O., and Jenner P. Failure of the ubiquitin-proteasome system in Parkinson's disease. Nat. Rev. Neurosci. 2 (2001) 589-594
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, pp. 589-594
-
-
McNaught, K.S.1
Olanow, C.W.2
Halliwell, B.3
Isacson, O.4
Jenner, P.5
-
126
-
-
0031025813
-
Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embyonic karyoplast transplantation
-
Meirelles F., and Smith L.C. Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embyonic karyoplast transplantation. Genetics 145 (1997) 445-451
-
(1997)
Genetics
, vol.145
, pp. 445-451
-
-
Meirelles, F.1
Smith, L.C.2
-
127
-
-
9144268494
-
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
-
Miller C., Saada A., Shaul N., Shabtai N., Ben-Shalom E., Shaag A., Hershkovitz E., and Elpeleg O. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann. Neurol. 56 (2004) 734-738
-
(2004)
Ann. Neurol.
, vol.56
, pp. 734-738
-
-
Miller, C.1
Saada, A.2
Shaul, N.3
Shabtai, N.4
Ben-Shalom, E.5
Shaag, A.6
Hershkovitz, E.7
Elpeleg, O.8
-
130
-
-
0019423857
-
Distinctive features of the 5′-terminal sequences of the human mitochondrial mRNAs
-
Montoya J., Ojala D., and Attardi G. Distinctive features of the 5′-terminal sequences of the human mitochondrial mRNAs. Nature 290 (1981) 465-470
-
(1981)
Nature
, vol.290
, pp. 465-470
-
-
Montoya, J.1
Ojala, D.2
Attardi, G.3
-
131
-
-
0040583581
-
Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA
-
Montoya J., Christianson T., Levens D., Rabinowitz M., and Attardi G. Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA. Proc. Natl. Acad. Sci. USA 79 (1982) 7195-7199
-
(1982)
Proc. Natl. Acad. Sci. USA
, vol.79
, pp. 7195-7199
-
-
Montoya, J.1
Christianson, T.2
Levens, D.3
Rabinowitz, M.4
Attardi, G.5
-
132
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A.F., Nakase H., Bonilla E., Werneck L.C., Servidei S., Nonaka I., Koga Y., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 320 (1989) 1293-1299
-
(1989)
N. Engl. J. Med.
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
Nakase, H.7
Bonilla, E.8
Werneck, L.C.9
Servidei, S.10
Nonaka, I.11
Koga, Y.12
-
133
-
-
0027527050
-
Pearson's marrow/pancreas syndrome: A histological and genetic study
-
Morikawa Y., Matsuura N., Kakudo K., Higuchi R., Koike M., and Kobayashi Y. Pearson's marrow/pancreas syndrome: A histological and genetic study. Virchows Arch. A Pathol. Anat. Histopathol. 423 (1993) 227-231
-
(1993)
Virchows Arch. A Pathol. Anat. Histopathol.
, vol.423
, pp. 227-231
-
-
Morikawa, Y.1
Matsuura, N.2
Kakudo, K.3
Higuchi, R.4
Koike, M.5
Kobayashi, Y.6
-
135
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux R.K., and Nguyen K.V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol. 55 (2004) 706-712
-
(2004)
Ann. Neurol.
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
136
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I., Spinazzola A., and Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (1999) 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
137
-
-
0025895482
-
Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]
-
Obermaier-Kusser B., Paetzke-Brunner I., Enter C., Muller-Hocker J., Zierz S., Ruitenbeek W., and Gerbitz K.D. Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]. FEBS Lett. 286 (1991) 67-70
-
(1991)
FEBS Lett.
, vol.286
, pp. 67-70
-
-
Obermaier-Kusser, B.1
Paetzke-Brunner, I.2
Enter, C.3
Muller-Hocker, J.4
Zierz, S.5
Ruitenbeek, W.6
Gerbitz, K.D.7
-
138
-
-
0019444843
-
tRNA punctuation model of RNA processing in human mitochondria
-
Ojala D., Montoya J., and Attardi G. tRNA punctuation model of RNA processing in human mitochondria. Nature 290 (1981) 470-474
-
(1981)
Nature
, vol.290
, pp. 470-474
-
-
Ojala, D.1
Montoya, J.2
Attardi, G.3
-
139
-
-
0029146967
-
Tissue distribution and disease manifestations of the tRNA(Lys) A→G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
-
Oldfors A., Holme E., Tulinius M., and Larsson N.G. Tissue distribution and disease manifestations of the tRNA(Lys) A→G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol. 90 (1995) 328-333
-
(1995)
Acta Neuropathol.
, vol.90
, pp. 328-333
-
-
Oldfors, A.1
Holme, E.2
Tulinius, M.3
Larsson, N.G.4
-
140
-
-
0029026639
-
Mechanism of somatic mitochondrial DNA mutations associated with age and diseases
-
Ozawa T. Mechanism of somatic mitochondrial DNA mutations associated with age and diseases. Biochim. Biophys. Acta 1271 (1995) 177-189
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 177-189
-
-
Ozawa, T.1
-
142
-
-
0025829045
-
Similarity of human mitochondrial transcription factor 1 to high mobility group proteins
-
Parisi M.A., and Clayton D.A. Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science 252 (1991) 965-969
-
(1991)
Science
, vol.252
, pp. 965-969
-
-
Parisi, M.A.1
Clayton, D.A.2
-
143
-
-
0037417764
-
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation
-
Park H., Davidson E., and King M.P. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation. Biochemistry 42 (2003) 958-964
-
(2003)
Biochemistry
, vol.42
, pp. 958-964
-
-
Park, H.1
Davidson, E.2
King, M.P.3
-
144
-
-
0031736203
-
Somatic mutations of the mitochondrial genome in human colorectal tumours
-
Polyak K., Li Y., Zhu H., Lengauer C., Willson J.K., Markowitz S.D., Trush M.A., Kinzler K.W., and Vogelstein B. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat. Genet. 20 (1998) 291-293
-
(1998)
Nat. Genet.
, vol.20
, pp. 291-293
-
-
Polyak, K.1
Li, Y.2
Zhu, H.3
Lengauer, C.4
Willson, J.K.5
Markowitz, S.D.6
Trush, M.A.7
Kinzler, K.W.8
Vogelstein, B.9
-
145
-
-
0028998413
-
Duplications of mitochondrial DNA in Kearns-Sayre syndrome
-
Poulton J., Morten K.J., Marchington D., Weber K., Brown G.K., Rotig A., and Bindoff L. Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve 3 (1995) S154-S158
-
(1995)
Muscle Nerve
, vol.3
-
-
Poulton, J.1
Morten, K.J.2
Marchington, D.3
Weber, K.4
Brown, G.K.5
Rotig, A.6
Bindoff, L.7
-
147
-
-
0037096760
-
Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study
-
Poulton J., Luan J., Macaulay V., Hennings S., Mitchell J., and Wareham N.J. Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study. Hum. Mol. Genet. 11 (2002) 1581-1583
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1581-1583
-
-
Poulton, J.1
Luan, J.2
Macaulay, V.3
Hennings, S.4
Mitchell, J.5
Wareham, N.J.6
-
148
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I., Shohat M., and Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4 (1993) 289-294
-
(1993)
Nat. Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qiu, W.Q.6
Arnos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.I.10
Shohat, M.11
Fischel-Ghodsian, N.12
-
149
-
-
20144389920
-
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD
-
Pyle A., Foltynie T., Tiangyou W., Lambert C., Keers S.M., Allcock L.M., Davison J., Lewis S.J., Perry R.H., Barker R., Burn D.J., and Chinnery P.F. Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann. Neurol. 57 (2005) 564-567
-
(2005)
Ann. Neurol.
, vol.57
, pp. 564-567
-
-
Pyle, A.1
Foltynie, T.2
Tiangyou, W.3
Lambert, C.4
Keers, S.M.5
Allcock, L.M.6
Davison, J.7
Lewis, S.J.8
Perry, R.H.9
Barker, R.10
Burn, D.J.11
Chinnery, P.F.12
-
150
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman S., Blok R.B., Dahl H.H., Danks D.M., Kirby D.M., Chow C.W., Christodoulou J., and Thorburn D.R. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann. Neurol. 39 (1996) 343-351
-
(1996)
Ann. Neurol.
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
151
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid F.M., Vernham G.A., and Jacobs H.T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3 (1994) 243-247
-
(1994)
Hum. Mutat.
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
152
-
-
0034955834
-
Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family
-
Rigoli L., Prisco F., Caruso R.A., Iafusco D., Ursomanno G., Zuccarello D., Ingenito N., Rigoli M., and Barberi I. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabet. Med. 18 (2001) 334-336
-
(2001)
Diabet. Med.
, vol.18
, pp. 334-336
-
-
Rigoli, L.1
Prisco, F.2
Caruso, R.A.3
Iafusco, D.4
Ursomanno, G.5
Zuccarello, D.6
Ingenito, N.7
Rigoli, M.8
Barberi, I.9
-
153
-
-
0037380725
-
mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish
-
Ross O.A., McCormack R., Maxwell L.D., Duguid R.A., Quinn D.J., Barnett Y.A., Rea I.M., El-Agnaf O.M., Gibson J.M., Wallace A., Middleton D., and Curran M.D. mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp. Gerontol. 38 (2003) 397-405
-
(2003)
Exp. Gerontol.
, vol.38
, pp. 397-405
-
-
Ross, O.A.1
McCormack, R.2
Maxwell, L.D.3
Duguid, R.A.4
Quinn, D.J.5
Barnett, Y.A.6
Rea, I.M.7
El-Agnaf, O.M.8
Gibson, J.M.9
Wallace, A.10
Middleton, D.11
Curran, M.D.12
-
154
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., and Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29 (2001) 342
-
(2001)
Nat. Genet.
, vol.29
, pp. 342
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
155
-
-
0031024114
-
UKPDS 21: Low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients
-
Saker P.J., Hattersley A.T., Barrow B., Hammersley M.S., Horton V., Gillmer M.D., and Turner R.C. UKPDS 21: Low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients. Diabet. Med. 14 (1997) 42-45
-
(1997)
Diabet. Med.
, vol.14
, pp. 42-45
-
-
Saker, P.J.1
Hattersley, A.T.2
Barrow, B.3
Hammersley, M.S.4
Horton, V.5
Gillmer, M.D.6
Turner, R.C.7
-
157
-
-
17844411205
-
Rare creation of recombinant mtDNA haplotypes in mammalian tissues
-
Epub 2005 Apr 13
-
Sato A., Nakada K., Akimoto M., Ishikawa K., Ono T., Shitara H., Yonekawa H., and Hayashi J. Rare creation of recombinant mtDNA haplotypes in mammalian tissues. Proc. Natl. Acad. Sci. USA 102 (2005) 6057-6062 Epub 2005 Apr 13
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 6057-6062
-
-
Sato, A.1
Nakada, K.2
Akimoto, M.3
Ishikawa, K.4
Ono, T.5
Shitara, H.6
Yonekawa, H.7
Hayashi, J.8
-
158
-
-
0029004979
-
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria
-
Saunier P., Chretien D., Wood C., Rotig A., Bonnefont J.P., Saudubray J.M., Rabier D., Munnich A., and Rustin P. Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. Neuromuscul. Disord. 5 (1995) 285-289
-
(1995)
Neuromuscul. Disord.
, vol.5
, pp. 285-289
-
-
Saunier, P.1
Chretien, D.2
Wood, C.3
Rotig, A.4
Bonnefont, J.P.5
Saudubray, J.M.6
Rabier, D.7
Munnich, A.8
Rustin, P.9
-
159
-
-
9644274004
-
The epidemiology of mitochondrial disorders-past, present and future
-
Schaefer A.M., Taylor R.W., Turnbull D.M., and Chinnery P.F. The epidemiology of mitochondrial disorders-past, present and future. Biochim. Biophys. Acta 1659 (2004) 115-120
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 115-120
-
-
Schaefer, A.M.1
Taylor, R.W.2
Turnbull, D.M.3
Chinnery, P.F.4
-
160
-
-
0026752276
-
The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: A model for pathogenesis
-
Schon E.A., Koga Y., Davidson M., Moraes C.T., and King M.P. The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: A model for pathogenesis. Biochim. Biophys. Acta 1101 (1992) 206-209
-
(1992)
Biochim. Biophys. Acta
, vol.1101
, pp. 206-209
-
-
Schon, E.A.1
Koga, Y.2
Davidson, M.3
Moraes, C.T.4
King, M.P.5
-
161
-
-
0037158599
-
Paternal inheritance of mitochondrial DNA
-
Schwartz M., and Vissing J. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med. 347 (2002) 576-580
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
162
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner J.M., Lott M.T., Lezza A.M., Seibel P., Ballinger S.W., and Wallace D.C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61 (1990) 931-937
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
163
-
-
0036649519
-
The ABCs of mitochondrial transcription
-
Shoubridge E.A. The ABCs of mitochondrial transcription. Nat. Genet. 31 (2002) 227-228
-
(2002)
Nat. Genet.
, vol.31
, pp. 227-228
-
-
Shoubridge, E.A.1
-
164
-
-
0027190874
-
Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
-
Silvestri G., Ciafaloni E., Santorelli F.M., Shanske S., Servidei S., Graf W.D., Sumi M., and DiMauro S. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 43 (1993) 1200-1206
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
Shanske, S.4
Servidei, S.5
Graf, W.D.6
Sumi, M.7
DiMauro, S.8
-
165
-
-
1942469358
-
Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants
-
Sissler M., Helm M., Frugier M., Giege R., and Florentz C. Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants. RNA 10 (2004) 841-853
-
(2004)
RNA
, vol.10
, pp. 841-853
-
-
Sissler, M.1
Helm, M.2
Frugier, M.3
Giege, R.4
Florentz, C.5
-
166
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localised in mitochondria
-
Spelbrink J.N., Li F.Y., Tiranti V., Nikali K., Yuan Q.P., Wanrooij S., Garrido N., Comi G.P., Morandi L., Santoro L., Toscano A., Fabrizi G.M., et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localised in mitochondria. Nat. Genet. 28 (2001) 223-231
-
(2001)
Nat. Genet.
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Wanrooij, S.6
Garrido, N.7
Comi, G.P.8
Morandi, L.9
Santoro, L.10
Toscano, A.11
Fabrizi, G.M.12
-
167
-
-
18544374728
-
Altered thymidine metabolism due to defects of thymidine phosphorylase
-
Spinazzola A., Marti R., Nishino I., Andreu A.L., Naini A., Tadesse S., Pela I., Zammarchi E., Donati M.A., Oliver J.A., and Hirano M. Altered thymidine metabolism due to defects of thymidine phosphorylase. J. Biol. Chem. 277 (2002) 4128-4133
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 4128-4133
-
-
Spinazzola, A.1
Marti, R.2
Nishino, I.3
Andreu, A.L.4
Naini, A.5
Tadesse, S.6
Pela, I.7
Zammarchi, E.8
Donati, M.A.9
Oliver, J.A.10
Hirano, M.11
-
168
-
-
9644291803
-
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation
-
Spinazzola A., Carrara F., Mora M., and Zeviani M. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation. Neuromuscul. Disord. 14 (2004) 815-817
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 815-817
-
-
Spinazzola, A.1
Carrara, F.2
Mora, M.3
Zeviani, M.4
-
169
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A., Viscomi C., Fernandez-Vizarra E., Carrara F., D'Adamo P., Calvo S., Marsano R.M., Donnini C., Weiher H., Strisciuglio P., Parini R., Sarzi E., et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat. Genet. 38 (2006) 570-575
-
(2006)
Nat. Genet.
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
Carrara, F.4
D'Adamo, P.5
Calvo, S.6
Marsano, R.M.7
Donnini, C.8
Weiher, H.9
Strisciuglio, P.10
Parini, R.11
Sarzi, E.12
-
170
-
-
0035019225
-
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
-
Sternberg D., Chatzoglou E., Laforet P., Fayet G., Jardel C., Blondy P., Fardeau M., Amselem S., Eymard B., and Lombes A. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 124 (2001) 984-994
-
(2001)
Brain
, vol.124
, pp. 984-994
-
-
Sternberg, D.1
Chatzoglou, E.2
Laforet, P.3
Fayet, G.4
Jardel, C.5
Blondy, P.6
Fardeau, M.7
Amselem, S.8
Eymard, B.9
Lombes, A.10
-
171
-
-
0034252008
-
Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR
-
Steuerwald N., Barritt J.A., Adler R., Malter H., Schimmel T., Cohen J., and Brenner C.A. Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR. Zygote 8 (2000) 209-215
-
(2000)
Zygote
, vol.8
, pp. 209-215
-
-
Steuerwald, N.1
Barritt, J.A.2
Adler, R.3
Malter, H.4
Schimmel, T.5
Cohen, J.6
Brenner, C.A.7
-
172
-
-
0026554382
-
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
-
Stone E.M., Newman N.J., Miller N.R., Johns D.R., Lott M.T., and Wallace D.C. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J. Clin. Neuroophthalmol. 12 (1992) 10-14
-
(1992)
J. Clin. Neuroophthalmol.
, vol.12
, pp. 10-14
-
-
Stone, E.M.1
Newman, N.J.2
Miller, N.R.3
Johns, D.R.4
Lott, M.T.5
Wallace, D.C.6
-
173
-
-
0032976423
-
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
-
Sue C.M., Tanji K., Hadjigeorgiou G., Andreu A.L., Nishino I., Krishna S., Bruno C., Hirano M., Shanske S., Bonilla E., Fischel-Ghodsian N., DiMauro S., et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 52 (1999) 1905-1908
-
(1999)
Neurology
, vol.52
, pp. 1905-1908
-
-
Sue, C.M.1
Tanji, K.2
Hadjigeorgiou, G.3
Andreu, A.L.4
Nishino, I.5
Krishna, S.6
Bruno, C.7
Hirano, M.8
Shanske, S.9
Bonilla, E.10
Fischel-Ghodsian, N.11
DiMauro, S.12
-
174
-
-
0029908226
-
Origin and functional consequences of the complex I defect in Parkinson's disease
-
Swerdlow R.H., Parks J.K., Miller S.W., Tuttle J.B., Trimmer P.A., Sheehan J.P., Bennett Jr. J.P., Davis R.E., and Parker Jr. W.D. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann. Neurol. 40 (1996) 663-671
-
(1996)
Ann. Neurol.
, vol.40
, pp. 663-671
-
-
Swerdlow, R.H.1
Parks, J.K.2
Miller, S.W.3
Tuttle, J.B.4
Trimmer, P.A.5
Sheehan, J.P.6
Bennett Jr., J.P.7
Davis, R.E.8
Parker Jr., W.D.9
-
175
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor R.W., and Turnbull D.M. Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6 (2005) 389-402
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
176
-
-
0347600946
-
Mitochondrial DNA mutations in human colonic crypt stem cells
-
Taylor R.W., Barron M.J., Borthwick G.M., Gospel A., Chinnery P.F., Samuels D.C., Taylor G.A., Plusa S.M., Needham S.J., Greaves L.C., Kirkwood T.B., and Turnbull D.M. Mitochondrial DNA mutations in human colonic crypt stem cells. J. Clin. Invest. 112 (2003) 1351-1360
-
(2003)
J. Clin. Invest.
, vol.112
, pp. 1351-1360
-
-
Taylor, R.W.1
Barron, M.J.2
Borthwick, G.M.3
Gospel, A.4
Chinnery, P.F.5
Samuels, D.C.6
Taylor, G.A.7
Plusa, S.M.8
Needham, S.J.9
Greaves, L.C.10
Kirkwood, T.B.11
Turnbull, D.M.12
-
177
-
-
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., Leonard H., Barron M.J., Casali C., Santorelli F.M., Hirano M., Lightowlers R.N., 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
Leonard, H.7
Barron, M.J.8
Casali, C.9
Santorelli, F.M.10
Hirano, M.11
Lightowlers, R.N.12
-
178
-
-
1542328875
-
The diagnosis of mitochondrial muscle disease
-
Taylor R.W., Schaefer A.M., Barron M.J., McFarland R., and Turnbull D.M. The diagnosis of mitochondrial muscle disease. Neuromuscul. Disord. 14 (2004) 237-245
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 237-245
-
-
Taylor, R.W.1
Schaefer, A.M.2
Barron, M.J.3
McFarland, R.4
Turnbull, D.M.5
-
179
-
-
0029122341
-
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
-
Thyagarajan D., Shanske S., Vazquez-Memije M., De Vivo D., and DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann. Neurol. 38 (1995) 468-472
-
(1995)
Ann. Neurol.
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
Shanske, S.2
Vazquez-Memije, M.3
De Vivo, D.4
DiMauro, S.5
-
180
-
-
0029119782
-
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
-
Tiranti V., Chariot P., Carella F., Toscano A., Soliveri P., Girlanda P., Carrara F., Fratta G.M., Reid F.M., Mariotti C., and Zeviani M. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum. Mol. Genet. 4 (1995) 1421-1427
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
Toscano, A.4
Soliveri, P.5
Girlanda, P.6
Carrara, F.7
Fratta, G.M.8
Reid, F.M.9
Mariotti, C.10
Zeviani, M.11
-
181
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti V., Hoertnagel K., Carrozzo R., Galimberti C., Munaro M., Granatiero M., Zelante L., Gasparini P., Marzella R., Rocchi M., Bayona-Bafluy M.P., Enriquez J.-A., et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 63 (1998) 1609-1621
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
Zelante, L.7
Gasparini, P.8
Marzella, R.9
Rocchi, M.10
Bayona-Bafluy, M.P.11
Enriquez, J.-A.12
-
182
-
-
0037151016
-
The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover
-
Toompuu M., Yasukawa T., Suzuki T., Hakkinen T., Spelbrink J.N., Watanabe K., and Jacobs H.T. The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover. J. Biol. Chem. 277 (2002) 22240-22250
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 22240-22250
-
-
Toompuu, M.1
Yasukawa, T.2
Suzuki, T.3
Hakkinen, T.4
Spelbrink, J.N.5
Watanabe, K.6
Jacobs, H.T.7
-
183
-
-
0028786210
-
Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA
-
Traff J., Holme E., Ekbom K., and Nilsson B.Y. Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. Acta Neurol. Scand. 92 (1995) 394-397
-
(1995)
Acta Neurol. Scand.
, vol.92
, pp. 394-397
-
-
Traff, J.1
Holme, E.2
Ekbom, K.3
Nilsson, B.Y.4
-
185
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
Trifunovic A., Wredenberg A., Falkenberg M., Spelbrink J.N., Rovio A.T., Bruder C.E., Bohlooly Y.M., Gidlof S., Oldfors A., Wibom R., Tornell J., Jacobs H.T., et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429 (2004) 417-423
-
(2004)
Nature
, vol.429
, pp. 417-423
-
-
Trifunovic, A.1
Wredenberg, A.2
Falkenberg, M.3
Spelbrink, J.N.4
Rovio, A.T.5
Bruder, C.E.6
Bohlooly, Y.M.7
Gidlof, S.8
Oldfors, A.9
Wibom, R.10
Tornell, J.11
Jacobs, H.T.12
-
186
-
-
0037246310
-
Systematic review of incidence studies of Parkinson's disease
-
Twelves D., Perkins K.S., and Counsell C. Systematic review of incidence studies of Parkinson's disease. Mov. Disord. 18 (2003) 19-31
-
(2003)
Mov. Disord.
, vol.18
, pp. 19-31
-
-
Twelves, D.1
Perkins, K.S.2
Counsell, C.3
-
187
-
-
0034058869
-
Childhood encepahlopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial diseases
-
Uusimaa J., Remes A.M., Rantala H., Vianionpaa L., Herva R., Vuopala K., Nuutinen M., Majamaa K., and Hassinen I.E. Childhood encepahlopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial diseases. Pediatrics 105 (2000) 598-603
-
(2000)
Pediatrics
, vol.105
, pp. 598-603
-
-
Uusimaa, J.1
Remes, A.M.2
Rantala, H.3
Vianionpaa, L.4
Herva, R.5
Vuopala, K.6
Nuutinen, M.7
Majamaa, K.8
Hassinen, I.E.9
-
188
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
Valente E.M., Abou-Sleiman P.M., Caputo V., Muqit M.M., Harvey K., Gispert S., Ali Z., Del Turco D., Bentivoglio A.R., Healy D.G., Albanese A., Nussbaum R., et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004) 1158-1160
-
(2004)
Science
, vol.304
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.4
Harvey, K.5
Gispert, S.6
Ali, Z.7
Del Turco, D.8
Bentivoglio, A.R.9
Healy, D.G.10
Albanese, A.11
Nussbaum, R.12
-
189
-
-
0034667187
-
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography
-
van Den Bosch B.J., de Coo R.F., Scholte H.R., Nijland J.G., van Den Bogaard R., deVisser M., de Die-Smulders C.E., and Smeets H.J. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res. 28 (2000) E89
-
(2000)
Nucleic Acids Res.
, vol.28
-
-
van Den Bosch, B.J.1
de Coo, R.F.2
Scholte, H.R.3
Nijland, J.G.4
van Den Bogaard, R.5
deVisser, M.6
de Die-Smulders, C.E.7
Smeets, H.J.8
-
190
-
-
0026906885
-
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
van den Ouweland J.M., Lemkes H.H., Ruitenbeek W., Sandkuijl L.A., de Vijlder M.F., Struyvenberg P.A., van de Kamp J.J., and Maassen J.A. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1 (1992) 368-371
-
(1992)
Nat. Genet.
, vol.1
, pp. 368-371
-
-
van den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
Sandkuijl, L.A.4
de Vijlder, M.F.5
Struyvenberg, P.A.6
van de Kamp, J.J.7
Maassen, J.A.8
-
191
-
-
0037385480
-
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease
-
van der Walt J.M., Nicodemus K.K., Martin E.R., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Haines J.L., Koller W.C., Lyons K., Pahwa R., Stern M.B., et al. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am. J. Hum. Genet. 72 (2003) 804-811
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 804-811
-
-
van der Walt, J.M.1
Nicodemus, K.K.2
Martin, E.R.3
Scott, W.K.4
Nance, M.A.5
Watts, R.L.6
Hubble, J.P.7
Haines, J.L.8
Koller, W.C.9
Lyons, K.10
Pahwa, R.11
Stern, M.B.12
-
192
-
-
3242707016
-
Analysis of European mitochondrial haplogroups with Alzheimer disease risk
-
van der Walt J.M., Dementieva Y.A., Martin E.R., Scott W.K., Nicodemus K.K., Kroner C.C., Welsh-Bohmer K.A., Saunders A.M., Roses A.D., Small G.W., Schmechel D.E., Murali Doraiswamy P., et al. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci. Lett. 365 (2004) 28-32
-
(2004)
Neurosci. Lett.
, vol.365
, pp. 28-32
-
-
van der Walt, J.M.1
Dementieva, Y.A.2
Martin, E.R.3
Scott, W.K.4
Nicodemus, K.K.5
Kroner, C.C.6
Welsh-Bohmer, K.A.7
Saunders, A.M.8
Roses, A.D.9
Small, G.W.10
Schmechel, D.E.11
Murali Doraiswamy, P.12
-
193
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G., Dermaut B., Lofgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 28 (2001) 211-212
-
(2001)
Nat. Genet.
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
194
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
Van Goethem G., Martin J.J., Dermaut B., Lofgren A., Wibail A., Ververken D., Tack P., Dehaene I., Van Zandijcke M., Moonen M., Ceuterick C., De Jonghe P., et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul. Disord. 13 (2003) 133-142
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
Lofgren, A.4
Wibail, A.5
Ververken, D.6
Tack, P.7
Dehaene, I.8
Van Zandijcke, M.9
Moonen, M.10
Ceuterick, C.11
De Jonghe, P.12
-
195
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
Van Goethem G., Luoma P., Rantamaki M., Al Memar A., Kaakkola S., Hackman P., Krahe R., Lofgren A., Martin J.J., De Jonghe P., Suomalainen A., Udd B., et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63 (2004) 1251-1257
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
Van Goethem, G.1
Luoma, P.2
Rantamaki, M.3
Al Memar, A.4
Kaakkola, S.5
Hackman, P.6
Krahe, R.7
Lofgren, A.8
Martin, J.J.9
De Jonghe, P.10
Suomalainen, A.11
Udd, B.12
-
196
-
-
0036297660
-
Sequence analysis of the entire mitochondrial genome in Parkinson's disease
-
Vives-Bauza C., Andreu A.L., Manfredi G., Beal M.F., Janetzky B., Gruenewald T.H., and Lin M.T. Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Biochem. Biophys. Res. Commun. 290 (2002) 1593-1601
-
(2002)
Biochem. Biophys. Res. Commun.
, vol.290
, pp. 1593-1601
-
-
Vives-Bauza, C.1
Andreu, A.L.2
Manfredi, G.3
Beal, M.F.4
Janetzky, B.5
Gruenewald, T.H.6
Lin, M.T.7
-
197
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas II L.J., and Nikoskelainen E.K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242 (1988) 1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas II, L.J.7
Nikoskelainen, E.K.8
-
198
-
-
8444228909
-
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA
-
Wilson F.H., Hariri A., Farhi A., Zhao H., Petersen K.F., Toka H.R., Nelson-Williams C., Raja K.M., Kashgarian M., Shulman G.I., Scheinman S.J., and Lifton R.P. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 306 (2004) 1190-1194
-
(2004)
Science
, vol.306
, pp. 1190-1194
-
-
Wilson, F.H.1
Hariri, A.2
Farhi, A.3
Zhao, H.4
Petersen, K.F.5
Toka, H.R.6
Nelson-Williams, C.7
Raja, K.M.8
Kashgarian, M.9
Shulman, G.I.10
Scheinman, S.J.11
Lifton, R.P.12
-
200
-
-
0037112343
-
Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication
-
Yang M.Y., Bowmaker M., Reyes A., Vergani L., Angeli P., Gringeri E., Jacobs H.T., and Holt I.J. Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 111 (2002) 495-505
-
(2002)
Cell
, vol.111
, pp. 495-505
-
-
Yang, M.Y.1
Bowmaker, M.2
Reyes, A.3
Vergani, L.4
Angeli, P.5
Gringeri, E.6
Jacobs, H.T.7
Holt, I.J.8
-
201
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M., Moraes C.T., DiMauro S., Nakase H., Bonilla E., Schon E.A., and Rowland L.P. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38 (1988) 1339-1346
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
Rowland, L.P.7
-
202
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting in the D-loop region
-
Zeviani M., Sevidei S., Gallera C., Bertini E., DiMauro S., and DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting in the D-loop region. Nature 339 (1989) 309-311
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Sevidei, S.2
Gallera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
203
-
-
0025250482
-
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
-
Zeviani M., Bresolin N., Gellera C., Bordoni A., Pannacci M., Amati P., Moggio M., Servidei S., Scarlato G., and DiDonato S. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease. Am. J. Hum. Genet. 47 (1990) 904-914
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 904-914
-
-
Zeviani, M.1
Bresolin, N.2
Gellera, C.3
Bordoni, A.4
Pannacci, M.5
Amati, P.6
Moggio, M.7
Servidei, S.8
Scarlato, G.9
DiDonato, S.10
-
204
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu Z., Yao J., Johns T., Fu K., De Bie I., Macmillan C., Cuthbert A.P., Newbold R.F., Wang J., Chevrette M., Brown G.K., Brown R.M., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20 (1998) 337-343
-
(1998)
Nat. Genet.
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
Fu, K.4
De Bie, I.5
Macmillan, C.6
Cuthbert, A.P.7
Newbold, R.F.8
Wang, J.9
Chevrette, M.10
Brown, G.K.11
Brown, R.M.12
-
205
-
-
23044500257
-
Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy
-
Epub 2005 Jul 17
-
Zsurka G., Kraytsberg Y., Kudina T., Kornblum C., Elger C.E., Khrapko K., and Kunz W.S. Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy. Nat. Genet. 37 (2005) 873-877 Epub 2005 Jul 17
-
(2005)
Nat. Genet.
, vol.37
, pp. 873-877
-
-
Zsurka, G.1
Kraytsberg, Y.2
Kudina, T.3
Kornblum, C.4
Elger, C.E.5
Khrapko, K.6
Kunz, W.S.7
-
206
-
-
0025727366
-
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
-
Zupanc M.L., Moraes C.T., Shanske S., Langman C.B., Ciafaloni E., and DiMauro S. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann. Neurol. 29 (1991) 680-683
-
(1991)
Ann. Neurol.
, vol.29
, pp. 680-683
-
-
Zupanc, M.L.1
Moraes, C.T.2
Shanske, S.3
Langman, C.B.4
Ciafaloni, E.5
DiMauro, S.6
|