-
1
-
-
34548394944
-
The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects
-
Adhihetty PJ, Taivassalo T, Haller RG, Walkinshaw DR, Hood DA, (2007). The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects. Am J Physiol Endocrinol Metab 293: E672-E680.
-
(2007)
Am J Physiol Endocrinol Metab
, vol.293
-
-
Adhihetty, P.J.1
Taivassalo, T.2
Haller, R.G.3
Walkinshaw, D.R.4
Hood, D.A.5
-
2
-
-
0037440750
-
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
-
Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, et al. (2003). Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 12: 399-413.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 399-413
-
-
Agostino, A.1
Invernizzi, F.2
Tiveron, C.3
Fagiolari, G.4
Prelle, A.5
Lamantea, E.6
-
3
-
-
77952485613
-
Ketogenic diet slows down mitochondrial myopathy progression in mice
-
Ahola-Erkkila S, Carroll CJ, Peltola-Mjosund K, Tulkki V, Mattila I, Seppanen-Laakso T, et al. (2010). Ketogenic diet slows down mitochondrial myopathy progression in mice. Hum Mol Genet 19: 1974-1984.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1974-1984
-
-
Ahola-Erkkila, S.1
Carroll, C.J.2
Peltola-Mjosund, K.3
Tulkki, V.4
Mattila, I.5
Seppanen-Laakso, T.6
-
4
-
-
48249149059
-
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
-
Akman HO, Dorado B, Lopez LC, Garcia-Cazorla A, Vila MR, Tanabe LM, et al. (2008). Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet 17: 2433-2440.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2433-2440
-
-
Akman, H.O.1
Dorado, B.2
Lopez, L.C.3
Garcia-Cazorla, A.4
Vila, M.R.5
Tanabe, L.M.6
-
5
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. (2000). OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26: 211-215.
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
-
6
-
-
84878515894
-
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: A retrospective review of the clinical, radiological and molecular findings of 18 new cases
-
Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, et al. (2013). Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 8: 83.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 83
-
-
Alfadhel, M.1
Almuntashri, M.2
Jadah, R.H.3
Bashiri, F.A.4
Al Rifai, M.T.5
Al Shalaan, H.6
-
7
-
-
0020585476
-
Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate
-
Allen RJ, DiMauro S, Coulter DL, Papadimitriou A, Rothenberg SP, (1983). Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Ann Neurol 13: 679-682.
-
(1983)
Ann Neurol
, vol.13
, pp. 679-682
-
-
Allen, R.J.1
Dimauro, S.2
Coulter, D.L.3
Papadimitriou, A.4
Rothenberg, S.P.5
-
8
-
-
84880673845
-
Pharmacological approaches to restore mitochondrial function
-
Andreux PA, Houtkooper RH, Auwerx J, (2013). Pharmacological approaches to restore mitochondrial function. Nat Rev Drug Discov 12: 465-483.
-
(2013)
Nat Rev Drug Discov
, vol.12
, pp. 465-483
-
-
Andreux, P.A.1
Houtkooper, R.H.2
Auwerx, J.3
-
9
-
-
84883778302
-
Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs
-
Bacman SR, Williams SL, Pinto M, Peralta S, Moraes CT, (2013). Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs. Nat Med 19: 1111-1113.
-
(2013)
Nat Med
, vol.19
, pp. 1111-1113
-
-
Bacman, S.R.1
Williams, S.L.2
Pinto, M.3
Peralta, S.4
Moraes, C.T.5
-
10
-
-
79955442484
-
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts
-
Bastin J, Lopes-Costa A, Djouadi F, (2011). Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. Hum Mol Genet 20: 2048-2057.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2048-2057
-
-
Bastin, J.1
Lopes-Costa, A.2
Djouadi, F.3
-
11
-
-
70350524083
-
Resveratrol is not a direct activator of SIRT1 enzyme activity
-
Beher D, Wu J, Cumine S, Kim KW, Lu SC, Atangan L, et al. (2009). Resveratrol is not a direct activator of SIRT1 enzyme activity. Chem Biol Drug Des 74: 619-624.
-
(2009)
Chem Biol Drug des
, vol.74
, pp. 619-624
-
-
Beher, D.1
Wu, J.2
Cumine, S.3
Kim, K.W.4
Lu, S.C.5
Atangan, L.6
-
12
-
-
77953808955
-
Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency
-
Bonnefont JP, Bastin J, Laforet P, Aubey F, Mogenet A, Romano S, et al. (2010). Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. Clin Pharmacol Ther 88: 101-108.
-
(2010)
Clin Pharmacol Ther
, vol.88
, pp. 101-108
-
-
Bonnefont, J.P.1
Bastin, J.2
Laforet, P.3
Aubey, F.4
Mogenet, A.5
Romano, S.6
-
13
-
-
33746848935
-
Mitochondrial biogenesis in the anticonvulsant mechanism of the ketogenic diet
-
Bough KJ, Wetherington J, Hassel B, Pare JF, Gawryluk JW, Greene JG, et al. (2006). Mitochondrial biogenesis in the anticonvulsant mechanism of the ketogenic diet. Ann Neurol 60: 223-235.
-
(2006)
Ann Neurol
, vol.60
, pp. 223-235
-
-
Bough, K.J.1
Wetherington, J.2
Hassel, B.3
Pare, J.F.4
Gawryluk, J.W.5
Greene, J.G.6
-
14
-
-
84874591240
-
The role of mitochondria in aging
-
Bratic A, Larsson NG, (2013). The role of mitochondria in aging. J Clin Invest 123: 951-957.
-
(2013)
J Clin Invest
, vol.123
, pp. 951-957
-
-
Bratic, A.1
Larsson, N.G.2
-
15
-
-
79952064144
-
Ethics of mitochondrial gene replacement: From bench to bedside
-
Bredenoord AL, Braude P, (2010). Ethics of mitochondrial gene replacement: from bench to bedside. BMJ 341: c6021.
-
(2010)
BMJ
, vol.341
-
-
Bredenoord, A.L.1
Braude, P.2
-
16
-
-
33747879021
-
Effects of riboflavin in children with complex II deficiency
-
Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M, et al. (2006). Effects of riboflavin in children with complex II deficiency. Brain Dev 28: 576-581.
-
(2006)
Brain Dev
, vol.28
, pp. 576-581
-
-
Bugiani, M.1
Lamantea, E.2
Invernizzi, F.3
Moroni, I.4
Bizzi, A.5
Zeviani, M.6
-
17
-
-
64549089612
-
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes
-
Bulst S, Abicht A, Holinski-Feder E, Muller-Ziermann S, Koehler U, Thirion C, et al. (2009). In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. Hum Mol Genet 18: 1590-1599.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1590-1599
-
-
Bulst, S.1
Abicht, A.2
Holinski-Feder, E.3
Muller-Ziermann, S.4
Koehler, U.5
Thirion, C.6
-
18
-
-
84866180900
-
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion
-
Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmuller H, et al. (2012). In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion. Mol Genet Metab 107: 95-103.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 95-103
-
-
Bulst, S.1
Holinski-Feder, E.2
Payne, B.3
Abicht, A.4
Krause, S.5
Lochmuller, H.6
-
19
-
-
0024567199
-
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia
-
Byrd DJ, Krohn HP, Winkler L, Steinborn C, Hadam M, Brodehl J, et al. (1989). Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr 148: 543-547.
-
(1989)
Eur J Pediatr
, vol.148
, pp. 543-547
-
-
Byrd, D.J.1
Krohn, H.P.2
Winkler, L.3
Steinborn, C.4
Hadam, M.5
Brodehl, J.6
-
20
-
-
33646362551
-
Systematic identification of human mitochondrial disease genes through integrative genomics
-
Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, et al. (2006). Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 38: 576-582.
-
(2006)
Nat Genet
, vol.38
, pp. 576-582
-
-
Calvo, S.1
Jain, M.2
Xie, X.3
Sheth, S.A.4
Chang, B.5
Goldberger, O.A.6
-
21
-
-
84884593803
-
Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA
-
Camara Y, Gonzalez-Vioque E, Scarpelli M, Torres-Torronteras J, Marti R, (2013). Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Drug Discov Today 18: 950-957.
-
(2013)
Drug Discov Today
, vol.18
, pp. 950-957
-
-
Camara, Y.1
Gonzalez-Vioque, E.2
Scarpelli, M.3
Torres-Torronteras, J.4
Marti, R.5
-
22
-
-
67349276169
-
AMPK regulates energy expenditure by modulating NAD+ metabolism and SIRT1 activity
-
Canto C, Gerhart-Hines Z, Feige JN, Lagouge M, Noriega L, Milne JC, et al. (2009). AMPK regulates energy expenditure by modulating NAD+ metabolism and SIRT1 activity. Nature 458: 1056-1060.
-
(2009)
Nature
, vol.458
, pp. 1056-1060
-
-
Canto, C.1
Gerhart-Hines, Z.2
Feige, J.N.3
Lagouge, M.4
Noriega, L.5
Milne, J.C.6
-
23
-
-
38849099158
-
Chemical inhibition of the mitochondrial division dynamin reveals its role in Bax/Bak-dependent mitochondrial outer membrane permeabilization
-
Cassidy-Stone A, Chipuk JE, Ingerman E, Song C, Yoo C, Kuwana T, et al. (2008). Chemical inhibition of the mitochondrial division dynamin reveals its role in Bax/Bak-dependent mitochondrial outer membrane permeabilization. Dev Cell 14: 193-204.
-
(2008)
Dev Cell
, vol.14
, pp. 193-204
-
-
Cassidy-Stone, A.1
Chipuk, J.E.2
Ingerman, E.3
Song, C.4
Yoo, C.5
Kuwana, T.6
-
24
-
-
84879907981
-
Induced pluripotent stem cells with a mitochondrial DNA deletion
-
Cherry AB, Gagne KE, McLoughlin EM, Baccei A, Gorman B, Hartung O, et al. (2013). Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells 31: 1287-1297.
-
(2013)
Stem Cells
, vol.31
, pp. 1287-1297
-
-
Cherry, A.B.1
Gagne, K.E.2
McLoughlin, E.M.3
Baccei, A.4
Gorman, B.5
Hartung, O.6
-
25
-
-
84873699488
-
Barth syndrome
-
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, et al. (2013). Barth syndrome. Orphanet J Rare Dis 8: 23.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 23
-
-
Clarke, S.L.1
Bowron, A.2
Gonzalez, I.L.3
Groves, S.J.4
Newbury-Ecob, R.5
Clayton, N.6
-
26
-
-
84871750408
-
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre syndrome
-
Comte C, Tonin Y, Heckel-Mager AM, Boucheham A, Smirnov A, Aure K, et al. (2013). Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre syndrome. Nucleic Acids Res 41: 418-433.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 418-433
-
-
Comte, C.1
Tonin, Y.2
Heckel-Mager, A.M.3
Boucheham, A.4
Smirnov, A.5
Aure, K.6
-
27
-
-
0031021443
-
Detection of mitochondrial DNA deletions in human skin fibroblasts of patients with Pearson's syndrome by two-color fluorescence in situ hybridization
-
van de Corput MP, van den Ouweland JM, Dirks RW, Hart LM, Bruining GJ, Maassen JA, et al. (1997). Detection of mitochondrial DNA deletions in human skin fibroblasts of patients with Pearson's syndrome by two-color fluorescence in situ hybridization. J Histochem Cytochem 45: 55-61.
-
(1997)
J Histochem Cytochem
, vol.45
, pp. 55-61
-
-
Van De Corput, M.P.1
Van Den Ouweland, J.M.2
Dirks, R.W.3
Hart, L.M.4
Bruining, G.J.5
Maassen, J.A.6
-
28
-
-
84859421209
-
A mitochondrial etiology of Alzheimer and Parkinson disease
-
Coskun P, Wyrembak J, Schriner SE, Chen HW, Marciniack C, Laferla F, et al. (2012). A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta 1820: 553-564.
-
(2012)
Biochim Biophys Acta
, vol.1820
, pp. 553-564
-
-
Coskun, P.1
Wyrembak, J.2
Schriner, S.E.3
Chen, H.W.4
Marciniack, C.5
Laferla, F.6
-
29
-
-
77952096877
-
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
-
Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, et al. (2010). Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 465: 82-85.
-
(2010)
Nature
, vol.465
, pp. 82-85
-
-
Craven, L.1
Tuppen, H.A.2
Greggains, G.D.3
Harbottle, S.J.4
Murphy, J.L.5
Cree, L.M.6
-
30
-
-
67650091375
-
Resveratrol induces mitochondrial biogenesis in endothelial cells
-
Csiszar A, Labinskyy N, Pinto JT, Ballabh P, Zhang H, Losonczy G, et al. (2009). Resveratrol induces mitochondrial biogenesis in endothelial cells. Am J Physiol Heart Circ Physiol 297: H13-H20.
-
(2009)
Am J Physiol Heart Circ Physiol
, vol.297
-
-
Csiszar, A.1
Labinskyy, N.2
Pinto, J.T.3
Ballabh, P.4
Zhang, H.5
Losonczy, G.6
-
31
-
-
70450247586
-
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells
-
Dassa EP, Dufour E, Gonçalves S, Paupe V, Hakkaart GA, Jacobs HT, et al. (2009). Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. EMBO Mol Med 1: 30-36.
-
(2009)
EMBO Mol Med
, vol.1
, pp. 30-36
-
-
Dassa, E.P.1
Dufour, E.2
Gonçalves, S.3
Paupe, V.4
Hakkaart, G.A.5
Jacobs, H.T.6
-
32
-
-
0029072626
-
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
-
De Stefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL, (1995). Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 45: 1193-1198.
-
(1995)
Neurology
, vol.45
, pp. 1193-1198
-
-
De Stefano, N.1
Matthews, P.M.2
Ford, B.3
Genge, A.4
Karpati, G.5
Arnold, D.L.6
-
33
-
-
80052200661
-
Polymeric nanoreactors for enzyme replacement therapy of MNGIE
-
De Vocht C, Ranquin A, Van GJ, Vanhaecke T, Rogiers V, Van GP, et al. (2010). Polymeric nanoreactors for enzyme replacement therapy of MNGIE. J Control Release 148: e19-e20.
-
(2010)
J Control Release
, vol.148
-
-
De Vocht, C.1
Ranquin, A.2
Van, G.J.3
Vanhaecke, T.4
Rogiers, V.5
Van, G.P.6
-
34
-
-
84875602384
-
D. Melanogaster, mitochondria and neurodegeneration: Small model organism, big discoveries
-
Debattisti V, Scorrano L, (2013). D. melanogaster, mitochondria and neurodegeneration: small model organism, big discoveries. Mol Cell Neurosci 55: 77-86.
-
(2013)
Mol Cell Neurosci
, vol.55
, pp. 77-86
-
-
Debattisti, V.1
Scorrano, L.2
-
36
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, et al. (2000). Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26: 207-210.
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
-
37
-
-
84872479464
-
Enzyme replacement therapy for lysosomal diseases: Lessons from 20 years of experience and remaining challenges
-
Desnick RJ, Schuchman EH, (2012). Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet 13: 307-335.
-
(2012)
Annu Rev Genomics Hum Genet
, vol.13
, pp. 307-335
-
-
Desnick, R.J.1
Schuchman, E.H.2
-
38
-
-
84865725896
-
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
-
Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M, (2012). Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med 4: 1008-1014.
-
(2012)
EMBO Mol Med
, vol.4
, pp. 1008-1014
-
-
Di Meo, I.1
Auricchio, A.2
Lamperti, C.3
Burlina, A.4
Viscomi, C.5
Zeviani, M.6
-
39
-
-
24944447977
-
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency
-
Diaz F, Thomas CK, Garcia S, Hernandez D, Moraes CT, (2005). Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency. Hum Mol Genet 14: 2737-2748.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2737-2748
-
-
Diaz, F.1
Thomas, C.K.2
Garcia, S.3
Hernandez, D.4
Moraes, C.T.5
-
40
-
-
0032975892
-
Mitochondrial encephalomyopathies: Back to Mendelian genetics
-
DiMauro S, (1999). Mitochondrial encephalomyopathies: back to Mendelian genetics. Ann Neurol 45: 693-694.
-
(1999)
Ann Neurol
, vol.45
, pp. 693-694
-
-
Dimauro, S.1
-
41
-
-
84881295459
-
Mitochondrial encephalomyopathies - Fifty years on: The Robert Wartenberg Lecture
-
DiMauro S, (2013). Mitochondrial encephalomyopathies-fifty years on: the Robert Wartenberg Lecture. Neurology 81: 281-291.
-
(2013)
Neurology
, vol.81
, pp. 281-291
-
-
Dimauro, S.1
-
42
-
-
34250676955
-
Mitochondrial diseases: Therapeutic approaches
-
DiMauro S, Mancuso M, (2007). Mitochondrial diseases: therapeutic approaches. Biosci Rep 27: 125-137.
-
(2007)
Biosci Rep
, vol.27
, pp. 125-137
-
-
Dimauro, S.1
Mancuso, M.2
-
43
-
-
84879777259
-
Mitochondrial biogenesis through activation of nuclear signaling proteins
-
Dominy JE, Puigserver P, (2013). Mitochondrial biogenesis through activation of nuclear signaling proteins. Cold Spring Harb Perspect Biol 5: 1-16.
-
(2013)
Cold Spring Harb Perspect Biol
, vol.5
, pp. 1-16
-
-
Dominy, J.E.1
Puigserver, P.2
-
44
-
-
65549087610
-
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: A potentially treatable form of mitochondrial disease
-
Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, et al. (2009). A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 84: 558-566.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 558-566
-
-
Duncan, A.J.1
Bitner-Glindzicz, M.2
Meunier, B.3
Costello, H.4
Hargreaves, I.P.5
Lopez, L.C.6
-
45
-
-
1942537035
-
Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism
-
Duncan GE, Perkins LA, Theriaque DW, Neiberger RE, Stacpoole PW, (2004). Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism. J Clin Endocrinol Metab 89: 1733-1738.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1733-1738
-
-
Duncan, G.E.1
Perkins, L.A.2
Theriaque, D.W.3
Neiberger, R.E.4
Stacpoole, P.W.5
-
46
-
-
84858700111
-
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation
-
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, et al. (2012). Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab 105: 607-614.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 607-614
-
-
El-Hattab, A.W.1
Hsu, J.W.2
Emrick, L.T.3
Wong, L.J.4
Craigen, W.J.5
Jahoor, F.6
-
47
-
-
84873498609
-
Alternative oxidase expression in the mouse enables bypassing cytochrolme c oxidase blockade and limits mitochondrial ROS overproduction
-
El-Khoury R, Dufour E, Rak M, Ramanantsoa N, Grandchamp N, Csaba Z, et al. (2013). Alternative oxidase expression in the mouse enables bypassing cytochrolme c oxidase blockade and limits mitochondrial ROS overproduction. PLoS Genet 9: e1003182.
-
(2013)
PLoS Genet
, vol.9
-
-
El-Khoury, R.1
Dufour, E.2
Rak, M.3
Ramanantsoa, N.4
Grandchamp, N.5
Csaba, Z.6
-
48
-
-
50949130569
-
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction
-
Ellouze S, Augustin S, Bouaita A, Bonnet C, Simonutti M, Forster V, et al. (2008). Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. Am J Hum Genet 83: 373-387.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 373-387
-
-
Ellouze, S.1
Augustin, S.2
Bouaita, A.3
Bonnet, C.4
Simonutti, M.5
Forster, V.6
-
49
-
-
84855355930
-
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
-
Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, et al. (2012). Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab 105: 91-102.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 91-102
-
-
Enns, G.M.1
Kinsman, S.L.2
Perlman, S.L.3
Spicer, K.M.4
Abdenur, J.E.5
Cohen, B.H.6
-
50
-
-
84886257705
-
Treatable Leigh-like encephalopathy presenting in adolescence
-
(in press). doi. 10.1136/bcr-2013-200838.
-
Fassone E, Wedatilake Y, DeVile C, Chong WK, Carr LJ, Rahman S, (2013). Treatable Leigh-like encephalopathy presenting in adolescence. BMJ Case Rep (in press). doi. 10.1136/bcr-2013-200838.
-
(2013)
BMJ Case Rep
-
-
Fassone, E.1
Wedatilake, Y.2
Devile, C.3
Chong, W.K.4
Carr, L.J.5
Rahman, S.6
-
51
-
-
77649085555
-
Gene expression in a Drosophila model of mitochondrial disease
-
Fernandez-Ayala DJ, Chen S, Kemppainen E, O'Dell KM, Jacobs HT, (2010). Gene expression in a Drosophila model of mitochondrial disease. PLoS ONE 5: e8549.
-
(2010)
PLoS ONE
, vol.5
-
-
Fernandez-Ayala, D.J.1
Chen, S.2
Kemppainen, E.3
O'Dell, K.M.4
Jacobs, H.T.5
-
52
-
-
79955906531
-
N-acetylcysteine in handgrip exercise: Plasma thiols and adverse reactions
-
Ferreira LF, Campbell KS, Reid MB, (2011). N-acetylcysteine in handgrip exercise: plasma thiols and adverse reactions. Int J Sport Nutr Exerc Metab 21: 146-154.
-
(2011)
Int J Sport Nutr Exerc Metab
, vol.21
, pp. 146-154
-
-
Ferreira, L.F.1
Campbell, K.S.2
Reid, M.B.3
-
53
-
-
84892148987
-
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
-
Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, et al. (2013). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (in press).
-
(2013)
Brain
-
-
Foley, A.R.1
Menezes, M.P.2
Pandraud, A.3
Gonzalez, M.A.4
Al-Odaib, A.5
Abrams, A.J.6
-
54
-
-
84874507385
-
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency
-
Garcia-Corzo L, Luna-Sanchez M, Doerrier C, Garcia JA, Guaras A, Acin-Perez R, et al. (2013). Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. Hum Mol Genet 22: 1233-1248.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 1233-1248
-
-
Garcia-Corzo, L.1
Luna-Sanchez, M.2
Doerrier, C.3
Garcia, J.A.4
Guaras, A.5
Acin-Perez, R.6
-
55
-
-
78650693584
-
Riboflavin-responsive oxidative phosphorylation complex i deficiency caused by defective ACAD9: New function for an old gene
-
Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, et al. (2011). Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 134: 210-219.
-
(2011)
Brain
, vol.134
, pp. 210-219
-
-
Gerards, M.1
Van Den Bosch, B.J.2
Danhauser, K.3
Serre, V.4
Van Weeghel, M.5
Wanders, R.J.6
-
56
-
-
78149325680
-
A randomized trial of coenzyme Q10 in mitochondrial disorders
-
Glover EI, Martin J, Maher A, Thornhill RE, Moran GR, Tarnopolsky MA, (2010). A randomized trial of coenzyme Q10 in mitochondrial disorders. Muscle Nerve 42: 739-748.
-
(2010)
Muscle Nerve
, vol.42
, pp. 739-748
-
-
Glover, E.I.1
Martin, J.2
Maher, A.3
Thornhill, R.E.4
Moran, G.R.5
Tarnopolsky, M.A.6
-
57
-
-
80055050942
-
Screening for active small molecules in mitochondrial complex i deficient patient's fibroblasts, reveals AICAR as the most beneficial compound
-
Golubitzky A, Dan P, Weissman S, Link G, Wikstrom JD, Saada A, (2011). Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound. PLoS ONE 6: e26883.
-
(2011)
PLoS ONE
, vol.6
-
-
Golubitzky, A.1
Dan, P.2
Weissman, S.3
Link, G.4
Wikstrom, J.D.5
Saada, A.6
-
58
-
-
33645001946
-
Riboflavin enhances the assembly of mitochondrial cytochrome c oxidase in C. Elegans NADH-ubiquinone oxidoreductase mutants
-
Grad LI, Lemire BD, (2006). Riboflavin enhances the assembly of mitochondrial cytochrome c oxidase in C. elegans NADH-ubiquinone oxidoreductase mutants. Biochim Biophys Acta 1757: 115-122.
-
(2006)
Biochim Biophys Acta
, vol.1757
, pp. 115-122
-
-
Grad, L.I.1
Lemire, B.D.2
-
59
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham BH, Waymire KG, Cottrell B, Trounce IA, Macgregor GR, Wallace DC, (1997). A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 16: 226-234.
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
Trounce, I.A.4
MacGregor, G.R.5
Wallace, D.C.6
-
61
-
-
79952533538
-
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A consensus conference proposal for a standardized approach
-
Halter J, Schupbach WM, Casali C, Elhasid R, Fay K, Hammans S, et al. (2011). Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Bone Marrow Transplant 46: 330-337.
-
(2011)
Bone Marrow Transplant
, vol.46
, pp. 330-337
-
-
Halter, J.1
Schupbach, W.M.2
Casali, C.3
Elhasid, R.4
Fay, K.5
Hammans, S.6
-
62
-
-
26444432919
-
Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis
-
Hance N, Ekstrand MI, Trifunovic A, (2005). Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. Hum Mol Genet 14: 1775-1783.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1775-1783
-
-
Hance, N.1
Ekstrand, M.I.2
Trifunovic, A.3
-
63
-
-
34648828532
-
AMP-activated/SNF1 protein kinases: Conserved guardians of cellular energy
-
Hardie DG, (2007). AMP-activated/SNF1 protein kinases: conserved guardians of cellular energy. Nat Rev Mol Cell Biol 8: 774-785.
-
(2007)
Nat Rev Mol Cell Biol
, vol.8
, pp. 774-785
-
-
Hardie, D.G.1
-
64
-
-
13844276595
-
Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment
-
Hargreaves IP, Sheena Y, Land JM, Heales SJ, (2005). Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment. J Inherit Metab Dis 28: 81-88.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 81-88
-
-
Hargreaves, I.P.1
Sheena, Y.2
Land, J.M.3
Heales, S.J.4
-
65
-
-
34248653209
-
Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: Implications for the pathogenesis and treatment of mitochondrial encephalomyopathies
-
Hargreaves IP, Duncan AJ, Wu L, Agrawal A, Land JM, Heales SJ, (2007). Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies. Mitochondrion 7: 284-287.
-
(2007)
Mitochondrion
, vol.7
, pp. 284-287
-
-
Hargreaves, I.P.1
Duncan, A.J.2
Wu, L.3
Agrawal, A.4
Land, J.M.5
Heales, S.J.6
-
66
-
-
30044446463
-
A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy
-
Hayashi M, Imanaka-Yoshida K, Yoshida T, Wood M, Fearns C, Tatake RJ, et al. (2006). A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy. Nat Med 12: 128-132.
-
(2006)
Nat Med
, vol.12
, pp. 128-132
-
-
Hayashi, M.1
Imanaka-Yoshida, K.2
Yoshida, T.3
Wood, M.4
Fearns, C.5
Tatake, R.J.6
-
67
-
-
0028604337
-
Trolox protects mitochondrial complex IV from nitric oxide-mediated damage in astrocytes
-
Heales SJ, Bolanos JP, Land JM, Clark JB, (1994). Trolox protects mitochondrial complex IV from nitric oxide-mediated damage in astrocytes. Brain Res 668: 243-245.
-
(1994)
Brain Res
, vol.668
, pp. 243-245
-
-
Heales, S.J.1
Bolanos, J.P.2
Land, J.M.3
Clark, J.B.4
-
68
-
-
0029918169
-
Mitochondrial damage: An important feature in a number of inborn errors of metabolism?
-
Heales SJ, Bolanos JP, Brand MP, Clark JB, Land JM, (1996). Mitochondrial damage: an important feature in a number of inborn errors of metabolism? J Inherit Metab Dis 19: 140-142.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 140-142
-
-
Heales, S.J.1
Bolanos, J.P.2
Brand, M.P.3
Clark, J.B.4
Land, J.M.5
-
70
-
-
84897421096
-
-
House of Commons Hansard Debates 25 June 2013. UK Parliment 565 c60WH. (accessed 20 August 2013)
-
House of Commons Hansard Debates 25 June 2013 (2013). Mitochondrial disease. UK Parliment 565 c60WH. Available at: http://www.publications. parliament.uk/pa/cm201314/cmhansrd/cm130625/halltext/130625h0002. htm#13062568000002 (accessed 20 August 2013).
-
(2013)
Mitochondrial Disease
-
-
-
72
-
-
0033772263
-
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
-
Inoue K, Nakada K, Ogura A, Isobe K, Goto Y, Nonaka I, et al. (2000). Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26: 176-181.
-
(2000)
Nat Genet
, vol.26
, pp. 176-181
-
-
Inoue, K.1
Nakada, K.2
Ogura, A.3
Isobe, K.4
Goto, Y.5
Nonaka, I.6
-
73
-
-
26844487515
-
Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism
-
Jacobson J, Duchen MR, Hothersall J, Clark JB, Heales SJ, (2005). Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism. J Neurochem 95: 388-395.
-
(2005)
J Neurochem
, vol.95
, pp. 388-395
-
-
Jacobson, J.1
Duchen, M.R.2
Hothersall, J.3
Clark, J.B.4
Heales, S.J.5
-
74
-
-
34547545892
-
AMP-activated protein kinase (AMPK) action in skeletal muscle via direct phosphorylation of PGC-1alpha
-
Jager S, Handschin CS, Pierre J, Spiegelman BM, (2007). AMP-activated protein kinase (AMPK) action in skeletal muscle via direct phosphorylation of PGC-1alpha. Proc Natl Acad Sci U S A 104: 12017-12022.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 12017-12022
-
-
Jager, S.1
Handschin, C.S.2
Pierre, J.3
Spiegelman, B.M.4
-
75
-
-
48249143179
-
The ketogenic diet increases mitochondrial glutathione levels
-
Jarrett SG, Milder JB, Liang LP, Patel M, (2008). The ketogenic diet increases mitochondrial glutathione levels. J Neurochem 106: 1044-1051.
-
(2008)
J Neurochem
, vol.106
, pp. 1044-1051
-
-
Jarrett, S.G.1
Milder, J.B.2
Liang, L.P.3
Patel, M.4
-
76
-
-
33846212708
-
Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects
-
Kang HC, Lee YM, Kim HD, Lee JS, Slama A, (2007). Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia 48: 82-88.
-
(2007)
Epilepsia
, vol.48
, pp. 82-88
-
-
Kang, H.C.1
Lee, Y.M.2
Kim, H.D.3
Lee, J.S.4
Slama, A.5
-
77
-
-
33646202306
-
Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial
-
Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, et al. (2006). Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 66: 324-330.
-
(2006)
Neurology
, vol.66
, pp. 324-330
-
-
Kaufmann, P.1
Engelstad, K.2
Wei, Y.3
Jhung, S.4
Sano, M.C.5
Shungu, D.C.6
-
78
-
-
84859942984
-
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex i deficiency-specific cardiomyopathy
-
Ke BX, Pepe S, Grubb DR, Komen JC, Laskowski A, Rodda FA, et al. (2012). Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. Proc Natl Acad Sci U S A 109: 6165-6170.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 6165-6170
-
-
Ke, B.X.1
Pepe, S.2
Grubb, D.R.3
Komen, J.C.4
Laskowski, A.5
Rodda, F.A.6
-
79
-
-
0035895888
-
Selective targeting of a redox-active ubiquinone to mitochondria within cells: Antioxidant and antiapoptotic properties
-
J Biol Chem 282: 14708-14718.
-
Kelso GF, Porteous CM, Coulter CV, Hughes G, Porteous WK, Ledgerwood EC, et al. (2001). Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties. J Biol Chem 276: 4588-4596. J Biol Chem 282: 14708-14718.
-
(2001)
J Biol Chem
, vol.276
, pp. 4588-4596
-
-
Kelso, G.F.1
Porteous, C.M.2
Coulter, C.V.3
Hughes, G.4
Porteous, W.K.5
Ledgerwood, E.C.6
-
80
-
-
84876167339
-
Review of clinical trials for mitochondrial disorders: 1997-2012
-
Kerr DS, (2013). Review of clinical trials for mitochondrial disorders: 1997-2012. Neurother 10: 307-319.
-
(2013)
Neurother
, vol.10
, pp. 307-319
-
-
Kerr, D.S.1
-
81
-
-
0042166135
-
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
-
Kimura T, Takeda S, Sagiya Y, Gotoh M, Nakamura Y, Arakawa H, (2003). Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nat Genet 34: 440-445.
-
(2003)
Nat Genet
, vol.34
, pp. 440-445
-
-
Kimura, T.1
Takeda, S.2
Sagiya, Y.3
Gotoh, M.4
Nakamura, Y.5
Arakawa, H.6
-
82
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous rhorhomitochondria by complementation
-
King MP, Attardi G, (1989). Human cells lacking mtDNA: repopulation with exogenous rhorhomitochondria by complementation. Science 246: 500-503.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
84
-
-
0034642154
-
A placebo-controlled crossover trial of creatine in mitochondrial diseases
-
Klopstock T, Querner V, Schmidt F, Gekeler F, Walter M, Hartard M, et al. (2000). A placebo-controlled crossover trial of creatine in mitochondrial diseases. Neurology 55: 1748-1751.
-
(2000)
Neurology
, vol.55
, pp. 1748-1751
-
-
Klopstock, T.1
Querner, V.2
Schmidt, F.3
Gekeler, F.4
Walter, M.5
Hartard, M.6
-
85
-
-
80052959702
-
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
-
Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, et al. (2011). A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 134: 2677-2686.
-
(2011)
Brain
, vol.134
, pp. 2677-2686
-
-
Klopstock, T.1
Yu-Wai-Man, P.2
Dimitriadis, K.3
Rouleau, J.4
Heck, S.5
Bailie, M.6
-
86
-
-
13844321746
-
L-arginine improves the symptoms of strokelike episodes in MELAS
-
Koga Y, Akita Y, Nishioka J, Yatsuga S, Povalko N, Tanabe Y, et al. (2005). L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology 64: 710-712.
-
(2005)
Neurology
, vol.64
, pp. 710-712
-
-
Koga, Y.1
Akita, Y.2
Nishioka, J.3
Yatsuga, S.4
Povalko, N.5
Tanabe, Y.6
-
87
-
-
33745648369
-
Endothelial dysfunction in MELAS improved by l-arginine supplementation
-
Koga Y, Akita Y, Junko N, Yatsuga S, Povalko N, Fukiyama R, et al. (2006). Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology 66: 1766-1769.
-
(2006)
Neurology
, vol.66
, pp. 1766-1769
-
-
Koga, Y.1
Akita, Y.2
Junko, N.3
Yatsuga, S.4
Povalko, N.5
Fukiyama, R.6
-
88
-
-
77955288655
-
MELAS and L-arginine therapy: Pathophysiology of stroke-like episodes
-
Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, (2010). MELAS and L-arginine therapy: pathophysiology of stroke-like episodes. Ann N Y Acad Sci 1201: 104-110.
-
(2010)
Ann N y Acad Sci
, vol.1201
, pp. 104-110
-
-
Koga, Y.1
Povalko, N.2
Nishioka, J.3
Katayama, K.4
Kakimoto, N.5
Matsuishi, T.6
-
89
-
-
20144387513
-
Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: A placebo-controlled, double-blind 31P-MRS crossover study
-
Kornblum C, Schroder R, Muller K, Vorgerd M, Eggers J, Bogdanow M, et al. (2005). Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study. Eur J Neurol 12: 300-309.
-
(2005)
Eur J Neurol
, vol.12
, pp. 300-309
-
-
Kornblum, C.1
Schroder, R.2
Muller, K.3
Vorgerd, M.4
Eggers, J.5
Bogdanow, M.6
-
90
-
-
84874056352
-
Transgene expression of Drosophila melanogaster nucleoside kinase reverses mitochondrial thymidine kinase 2 deficiency
-
Krishnan S, Zhou X, Paredes JA, Kuiper RV, Curbo S, Karlsson A, (2013). Transgene expression of Drosophila melanogaster nucleoside kinase reverses mitochondrial thymidine kinase 2 deficiency. J Biol Chem 288: 5072-5079.
-
(2013)
J Biol Chem
, vol.288
, pp. 5072-5079
-
-
Krishnan, S.1
Zhou, X.2
Paredes, J.A.3
Kuiper, R.V.4
Curbo, S.5
Karlsson, A.6
-
91
-
-
41449089840
-
Mice with mitochondrial complex i deficiency develop a fatal encephalomyopathy
-
Kruse SE, Watt WC, Marcinek DJ, Kapur RP, Schenkman KA, Palmiter RD, (2008). Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. Cell Metab 7: 312-320.
-
(2008)
Cell Metab
, vol.7
, pp. 312-320
-
-
Kruse, S.E.1
Watt, W.C.2
Marcinek, D.J.3
Kapur, R.P.4
Schenkman, K.A.5
Palmiter, R.D.6
-
92
-
-
77957004413
-
Leber hereditary optic neuropathy gene therapy clinical trial recruitment: Year 1
-
Lam BL, Feuer WJ, Abukhalil F, Porciatti V, Hauswirth WW, Guy J, (2010). Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. Arch Ophthalmol 128: 1129-1135.
-
(2010)
Arch Ophthalmol
, vol.128
, pp. 1129-1135
-
-
Lam, B.L.1
Feuer, W.J.2
Abukhalil, F.3
Porciatti, V.4
Hauswirth, W.W.5
Guy, J.6
-
93
-
-
84877730782
-
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: Toward a new category of inherited metabolic diseases
-
Lamari F, Mochel F, Sedel F, Saudubray JM, (2013). Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis 36: 411-425.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 411-425
-
-
Lamari, F.1
Mochel, F.2
Sedel, F.3
Saudubray, J.M.4
-
94
-
-
0031930319
-
Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice
-
Larsson NG, Wang J, Wilhelmsson H, Oldfors A, Rustin P, Lewandoski M, et al. (1998). Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 18: 231-236.
-
(1998)
Nat Genet
, vol.18
, pp. 231-236
-
-
Larsson, N.G.1
Wang, J.2
Wilhelmsson, H.3
Oldfors, A.4
Rustin, P.5
Lewandoski, M.6
-
95
-
-
33947277486
-
Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
-
Laugel V, This-Bernd V, Cormier-Daire V, Speeg-Schatz C, de Saint-Martin A, Fischbach M, (2007). Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations. Pediatr Neurol 36: 54-57.
-
(2007)
Pediatr Neurol
, vol.36
, pp. 54-57
-
-
Laugel, V.1
This-Bernd, V.2
Cormier-Daire, V.3
Speeg-Schatz, C.4
De Saint-Martin, A.5
Fischbach, M.6
-
96
-
-
79251499574
-
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy
-
Leveen P, Kotarsky H, Morgelin M, Karikoski R, Elmer E, Fellman V, (2011). The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. Hepatology 53: 437-447.
-
(2011)
Hepatology
, vol.53
, pp. 437-447
-
-
Leveen, P.1
Kotarsky, H.2
Morgelin, M.3
Karikoski, R.4
Elmer, E.5
Fellman, V.6
-
97
-
-
84872367581
-
Preclinical toxicity evaluation of erythrocyte-encapsulated thymidine phosphorylase in BALB/c mice and beagle dogs: An enzyme-replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy
-
Levene M, Coleman DG, Kilpatrick HC, Fairbanks LD, Gangadharan B, Gasson C, et al. (2013). Preclinical toxicity evaluation of erythrocyte-encapsulated thymidine phosphorylase in BALB/c mice and beagle dogs: an enzyme-replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy. Toxicol Sci 131: 311-324.
-
(2013)
Toxicol Sci
, vol.131
, pp. 311-324
-
-
Levene, M.1
Coleman, D.G.2
Kilpatrick, H.C.3
Fairbanks, L.D.4
Gangadharan, B.5
Gasson, C.6
-
98
-
-
84871431259
-
A pilot randomized, placebo controlled, double blind phase i trial of the novel SIRT1 activator SRT2104 in elderly volunteers
-
Libri V, Brown AP, Gambarota G, Haddad J, Shields GS, Dawes H, et al. (2012). A pilot randomized, placebo controlled, double blind phase I trial of the novel SIRT1 activator SRT2104 in elderly volunteers. PLoS ONE 7: e51395.
-
(2012)
PLoS ONE
, vol.7
-
-
Libri, V.1
Brown, A.P.2
Gambarota, G.3
Haddad, J.4
Shields, G.S.5
Dawes, H.6
-
99
-
-
0037241026
-
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover clinical trial
-
Liet JM, Pelletier V, Robinson BH, Laryea MD, Wendel U, Morneau S, et al. (2003). The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial. J Pediatr 142: 62-66.
-
(2003)
J Pediatr
, vol.142
, pp. 62-66
-
-
Liet, J.M.1
Pelletier, V.2
Robinson, B.H.3
Laryea, M.D.4
Wendel, U.5
Morneau, S.6
-
100
-
-
84870623870
-
Mouse mtDNA mutant model of Leber hereditary optic neuropathy
-
Lin CS, Sharpley MS, Fan W, Waymire KG, Sadun AA, Carelli V, et al. (2012). Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A 109: 20065-20070.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 20065-20070
-
-
Lin, C.S.1
Sharpley, M.S.2
Fan, W.3
Waymire, K.G.4
Sadun, A.A.5
Carelli, V.6
-
101
-
-
0015030432
-
An inherited kidney disease of mice resembling human nephronophthisis
-
Lyon MF, Hulse EV, (1971). An inherited kidney disease of mice resembling human nephronophthisis. J Med Genet 8: 41-48.
-
(1971)
J Med Genet
, vol.8
, pp. 41-48
-
-
Lyon, M.F.1
Hulse, E.V.2
-
102
-
-
84856224083
-
Expression of GFP in the mitochondrial compartment using DQAsome-mediated delivery of an artificial mini-mitochondrial genome
-
Lyrawati D, Trounson A, Cram D, (2011). Expression of GFP in the mitochondrial compartment using DQAsome-mediated delivery of an artificial mini-mitochondrial genome. Pharm Res 28: 2848-2862.
-
(2011)
Pharm Res
, vol.28
, pp. 2848-2862
-
-
Lyrawati, D.1
Trounson, A.2
Cram, D.3
-
103
-
-
33750314614
-
Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells
-
Mahata B, Mukherjee S, Mishra S, Bandyopadhyay A, Adhya S, (2006). Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells. Science 314: 471-474.
-
(2006)
Science
, vol.314
, pp. 471-474
-
-
Mahata, B.1
Mukherjee, S.2
Mishra, S.3
Bandyopadhyay, A.4
Adhya, S.5
-
104
-
-
2642534249
-
An adult case of Leigh disease
-
Malojcic B, Brinar V, Poser C, Djakovic V, (2004). An adult case of Leigh disease. Clin Neurol Neurosurg 106: 237-240.
-
(2004)
Clin Neurol Neurosurg
, vol.106
, pp. 237-240
-
-
Malojcic, B.1
Brinar, V.2
Poser, C.3
Djakovic, V.4
-
105
-
-
77954455562
-
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation
-
Mancuso M, Orsucci D, Logerfo A, Rocchi A, Petrozzi L, Nesti C, et al. (2010). Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation. J Neurol 257: 774-781.
-
(2010)
J Neurol
, vol.257
, pp. 774-781
-
-
Mancuso, M.1
Orsucci, D.2
Logerfo, A.3
Rocchi, A.4
Petrozzi, L.5
Nesti, C.6
-
106
-
-
84879495511
-
Phenotypic heterogeneity of the 8344A>G mtDNA 'MERRF' mutation
-
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, et al. (2013). Phenotypic heterogeneity of the 8344A>G mtDNA 'MERRF' mutation. Neurology 80: 2049-2054.
-
(2013)
Neurology
, vol.80
, pp. 2049-2054
-
-
Mancuso, M.1
Orsucci, D.2
Angelini, C.3
Bertini, E.4
Carelli, V.5
Comi, G.P.6
-
107
-
-
0036544631
-
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
-
Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwong JQ, Guy J, et al. (2002). Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 30: 394-399.
-
(2002)
Nat Genet
, vol.30
, pp. 394-399
-
-
Manfredi, G.1
Fu, J.2
Ojaimi, J.3
Sadlock, J.E.4
Kwong, J.Q.5
Guy, J.6
-
108
-
-
77955368934
-
Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model
-
Marella M, Seo BB, Thomas BB, Matsuno-Yagi A, Yagi T, (2010). Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model. PLoS ONE 5: e11472.
-
(2010)
PLoS ONE
, vol.5
-
-
Marella, M.1
Seo, B.B.2
Thomas, B.B.3
Matsuno-Yagi, A.4
Yagi, T.5
-
109
-
-
73449124480
-
Mitochondrial glutathione, a key survival antioxidant
-
Mari M, Morales A, Colell A, Garcia-Ruiz C, Fernandez-Checa JC, (2009). Mitochondrial glutathione, a key survival antioxidant. Antioxid Redox Signal 11: 2685-2700.
-
(2009)
Antioxid Redox Signal
, vol.11
, pp. 2685-2700
-
-
Mari, M.1
Morales, A.2
Colell, A.3
Garcia-Ruiz, C.4
Fernandez-Checa, J.C.5
-
110
-
-
84867897915
-
EPI-743 reverses the progression of the pediatric mitochondrial disease - Genetically defined Leigh Syndrome
-
Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, et al. (2012). EPI-743 reverses the progression of the pediatric mitochondrial disease-genetically defined Leigh Syndrome. Mol Genet Metab 107: 383-388.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 383-388
-
-
Martinelli, D.1
Catteruccia, M.2
Piemonte, F.3
Pastore, A.4
Tozzi, G.5
-
111
-
-
83455253737
-
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
-
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, et al. (2011). Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet 89: 792-797.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 792-797
-
-
Mayr, J.A.1
Zimmermann, F.A.2
Fauth, C.3
Bergheim, C.4
Meierhofer, D.5
Radmayr, D.6
-
112
-
-
84857043743
-
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
-
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, et al. (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90: 314-320.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 314-320
-
-
Mayr, J.A.1
Haack, T.B.2
Graf, E.3
Zimmermann, F.A.4
Wieland, T.5
Haberberger, B.6
-
113
-
-
84867887549
-
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
-
Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, et al. (2012). Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis 35: 1119-1128.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 1119-1128
-
-
Michot, C.1
Hubert, L.2
Romero, N.B.3
Gouda, A.4
Mamoune, A.5
Mathew, S.6
-
114
-
-
79958850438
-
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
-
Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, et al. (2011). A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 88: 845-851.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 845-851
-
-
Mitsuhashi, S.1
Ohkuma, A.2
Talim, B.3
Karahashi, M.4
Koumura, T.5
Aoyama, C.6
-
115
-
-
84884316964
-
Mitochondrial membrane lipid remodeling in pathophysiology: A new target for diet and therapeutic interventions
-
Monteiro JP, Oliveira PJ, Jurado AS, (2013). Mitochondrial membrane lipid remodeling in pathophysiology: a new target for diet and therapeutic interventions. Prog Lipid Res 52: 513-528.
-
(2013)
Prog Lipid Res
, vol.52
, pp. 513-528
-
-
Monteiro, J.P.1
Oliveira, P.J.2
Jurado, A.S.3
-
116
-
-
45949099527
-
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
-
Montini G, Malaventura C, Salviati L, (2008). Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med 358: 2849-2850.
-
(2008)
N Engl J Med
, vol.358
, pp. 2849-2850
-
-
Montini, G.1
Malaventura, C.2
Salviati, L.3
-
117
-
-
52449090145
-
Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE
-
Moran NF, Bain MD, Muqit MM, Bax BE, (2008). Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE. Neurology 71: 686-688.
-
(2008)
Neurology
, vol.71
, pp. 686-688
-
-
Moran, N.F.1
Bain, M.D.2
Muqit, M.M.3
Bax, B.E.4
-
118
-
-
0026680299
-
Clinical aspects of mitochondrial disorders
-
Munnich A, Rustin P, Rotig A, Chretien D, Bonnefont JP, Nuttin C, et al. (1992). Clinical aspects of mitochondrial disorders. J Inherit Metab Dis 15: 448-455.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 448-455
-
-
Munnich, A.1
Rustin, P.2
Rotig, A.3
Chretien, D.4
Bonnefont, J.P.5
Nuttin, C.6
-
119
-
-
55749115090
-
Resistance training in patients with single, large-scale deletions of mitochondrial DNA
-
Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, et al. (2008). Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 131: 2832-2840.
-
(2008)
Brain
, vol.131
, pp. 2832-2840
-
-
Murphy, J.L.1
Blakely, E.L.2
Schaefer, A.M.3
He, L.4
Wyrick, P.5
Haller, R.G.6
-
120
-
-
14844303949
-
Hypocitrullinemia in patients with MELAS: An insight into the 'MELAS paradox'
-
Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA, (2005). Hypocitrullinemia in patients with MELAS: an insight into the 'MELAS paradox'. J Neurol Sci 229-230: 187-193.
-
(2005)
J Neurol Sci
, vol.229-230
, pp. 187-193
-
-
Naini, A.1
Kaufmann, P.2
Shanske, S.3
Engelstad, K.4
De Vivo, D.C.5
Schon, E.A.6
-
121
-
-
84879908941
-
The UK MRC Mitochondrial Disease Patient Cohort Study: Clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management
-
Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, et al. (2013). The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management. J Neurol Neurosurg Psychiatry 84: 936-938.
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 936-938
-
-
Nesbitt, V.1
Pitceathly, R.D.2
Turnbull, D.M.3
Taylor, R.W.4
Sweeney, M.G.5
Mudanohwo, E.E.6
-
122
-
-
84873077988
-
-
Nuffield Council on Bioethics UK accessed 20 August 2013
-
Nuffield Council on Bioethics UK (2012). Novel techniques for the prevention of mitochondrial DNA disorders: an ethical review. Available at: http://www.nuffieldbioethics.org/sites/default/files/Novel-techniques-for-the- prevention-of-mitochondrial-DNA-disorders-compressed.pdf (accessed 20 August 2013).
-
(2012)
Novel Techniques for the Prevention of Mitochondrial DNA Disorders: An Ethical Review
-
-
-
123
-
-
84858376953
-
Mitochondria: In sickness and in health
-
Nunnari J, Suomalainen A, (2012). Mitochondria: in sickness and in health. Cell 148: 1145-1159.
-
(2012)
Cell
, vol.148
, pp. 1145-1159
-
-
Nunnari, J.1
Suomalainen, A.2
-
124
-
-
0030730874
-
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex i deficiency responsive to riboflavin
-
Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, et al. (1997). Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin. J Pediatr 130: 138-145.
-
(1997)
J Pediatr
, vol.130
, pp. 138-145
-
-
Ogle, R.F.1
Christodoulou, J.2
Fagan, E.3
Blok, R.B.4
Kirby, D.M.5
Seller, K.L.6
-
125
-
-
3042613363
-
Successful treatment with succinate in a patient with MELAS
-
Oguro H, Iijima K, Takahashi K, Nagai A, Bokura H, Yamaguchi S, et al. (2004). Successful treatment with succinate in a patient with MELAS. Intern Med 43: 427-431.
-
(2004)
Intern Med
, vol.43
, pp. 427-431
-
-
Oguro, H.1
Iijima, K.2
Takahashi, K.3
Nagai, A.4
Bokura, H.5
Yamaguchi, S.6
-
126
-
-
64349097080
-
Mitochondrial cytochrome c release: A factor to consider in mitochondrial disease?
-
Oppenheim ML, Hargreaves IP, Pope S, Land JM, Heales SJ, (2009). Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease? J Inherit Metab Dis 32: 269-273.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 269-273
-
-
Oppenheim, M.L.1
Hargreaves, I.P.2
Pope, S.3
Land, J.M.4
Heales, S.J.5
-
127
-
-
33644828424
-
Cardiolipin oxidation sets cytochrome c free
-
Orrenius S, Zhivotovsky B, (2005). Cardiolipin oxidation sets cytochrome c free. Nat Chem Biol 1: 188-189.
-
(2005)
Nat Chem Biol
, vol.1
, pp. 188-189
-
-
Orrenius, S.1
Zhivotovsky, B.2
-
128
-
-
77954859197
-
The role of mitochondria in the pathogenesis of type 2 diabetes
-
Patti ME, Corvera S, (2010). The role of mitochondria in the pathogenesis of type 2 diabetes. Endocr Rev 31: 364-395.
-
(2010)
Endocr Rev
, vol.31
, pp. 364-395
-
-
Patti, M.E.1
Corvera, S.2
-
129
-
-
69249217642
-
Melatonin inhibits cardiolipin peroxidation in mitochondria and prevents the mitochondrial permeability transition and cytochrome c release
-
Petrosillo G, Moro N, Ruggiero FM, Paradies G, (2009). Melatonin inhibits cardiolipin peroxidation in mitochondria and prevents the mitochondrial permeability transition and cytochrome c release. Free Radic Biol Med 47: 969-974.
-
(2009)
Free Radic Biol Med
, vol.47
, pp. 969-974
-
-
Petrosillo, G.1
Moro, N.2
Ruggiero, F.M.3
Paradies, G.4
-
130
-
-
84865193829
-
Treatment for mitochondrial disorders
-
CD004426.
-
Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF, (2012). Treatment for mitochondrial disorders. Cochrane Database Syst Rev (4): CD004426.
-
(2012)
Cochrane Database Syst Rev
, Issue.4
-
-
Pfeffer, G.1
Majamaa, K.2
Turnbull, D.M.3
Thorburn, D.4
Chinnery, P.F.5
-
131
-
-
33845202246
-
A scale to monitor progression and treatment of mitochondrial disease in children
-
Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, et al. (2006). A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord 16: 814-820.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 814-820
-
-
Phoenix, C.1
Schaefer, A.M.2
Elson, J.L.3
Morava, E.4
Bugiani, M.5
Uziel, G.6
-
132
-
-
32044475137
-
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
-
Pineda M, Ormazabal A, Lopez-Gallardo E, Nascimento A, Solano A, Herrero MD, et al. (2006). Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol 59: 394-398.
-
(2006)
Ann Neurol
, vol.59
, pp. 394-398
-
-
Pineda, M.1
Ormazabal, A.2
Lopez-Gallardo, E.3
Nascimento, A.4
Solano, A.5
Herrero, M.D.6
-
133
-
-
10044296222
-
The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia
-
Piruat JI, Pintado CO, Ortega-Saenz P, Roche M, Lopez-Barneo J, (2004). The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia. Mol Cell Biol 24: 10933-10940.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 10933-10940
-
-
Piruat, J.I.1
Pintado, C.O.2
Ortega-Saenz, P.3
Roche, M.4
Lopez-Barneo, J.5
-
134
-
-
84871878238
-
UK fertilisation authority launches consultation on mitochondrial replacement techniques
-
Pitts-Tucker T, (2012). UK fertilisation authority launches consultation on mitochondrial replacement techniques. BMJ 345: e6259.
-
(2012)
BMJ
, vol.345
-
-
Pitts-Tucker, T.1
-
135
-
-
46449083451
-
Oxidative stress and mitochondrial dysfunction in neurodegeneration; Cardiolipin a critical target?
-
Pope S, Land JM, Heales SJ, (2008). Oxidative stress and mitochondrial dysfunction in neurodegeneration; cardiolipin a critical target? Biochim Biophys Acta 1777: 794-799.
-
(2008)
Biochim Biophys Acta
, vol.1777
, pp. 794-799
-
-
Pope, S.1
Land, J.M.2
Heales, S.J.3
-
136
-
-
84897408586
-
-
Prescribing and Primary Care Services, Health and Social Care Information Centre accessed 20 August 2013
-
Prescribing and Primary Care Services, Health and Social Care Information Centre (2012). Prescriptions dispensed in the community: England 2002-12. Available at: https://catalogue.ic.nhs.uk/publications/prescribing/primary/pres- disp-com-eng-2002-12/pres-disp-com-eng-2002-12-rep.pdf (accessed 20 August 2013).
-
(2012)
Prescriptions Dispensed in the Community: England 2002-12
-
-
-
137
-
-
84876312885
-
A novel Drp1 inhibitor diminishes aberrant mitochondrial fission and neurotoxicity
-
Qi X, Qvit N, Su YC, Mochly-Rosen D, (2013). A novel Drp1 inhibitor diminishes aberrant mitochondrial fission and neurotoxicity. J Cell Sci 126: 789-802.
-
(2013)
J Cell Sci
, vol.126
, pp. 789-802
-
-
Qi, X.1
Qvit, N.2
Su, Y.C.3
Mochly-Rosen, D.4
-
138
-
-
84859511813
-
Mitochondrial disease and epilepsy
-
Rahman S, (2012). Mitochondrial disease and epilepsy. Dev Med Child Neurol 54: 397-406.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 397-406
-
-
Rahman, S.1
-
139
-
-
84880227427
-
Gastrointestinal and hepatic manifestations of mitochondrial disorders
-
Rahman S, (2013). Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis 36: 659-673.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 659-673
-
-
Rahman, S.1
-
140
-
-
69449091726
-
Diagnosis and therapy in neuromuscular disorders: Diagnosis and new treatments in mitochondrial diseases
-
Rahman S, Hanna MG, (2009). Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. J Neurol Neurosurg Psychiatry 80: 943-953.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 943-953
-
-
Rahman, S.1
Hanna, M.G.2
-
141
-
-
84878626198
-
189th ENMC international workshop complex i deficiency: Diagnosis and treatment 20-22 April 2012, Naarden, the Netherlands
-
Rahman S, Thorburn DR, (2013). 189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands. Neuromuscul Disord 23: 506-515.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 506-515
-
-
Rahman, S.1
Thorburn, D.R.2
-
142
-
-
0034822296
-
Neonatal presentation of coenzyme Q10 deficiency
-
Rahman S, Hargreaves I, Clayton P, Heales S, (2001). Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 139: 456-458.
-
(2001)
J Pediatr
, vol.139
, pp. 456-458
-
-
Rahman, S.1
Hargreaves, I.2
Clayton, P.3
Heales, S.4
-
143
-
-
84855992976
-
176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q(1)(0) deficiency
-
Rahman S, Clarke CF, Hirano M, (2012). 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q(1)(0) deficiency. Neuromuscul Disord 22: 76-86.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 76-86
-
-
Rahman, S.1
Clarke, C.F.2
Hirano, M.3
-
144
-
-
84877157309
-
Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS
-
Rikimaru M, Ohsawa Y, Wolf AM, Nishimaki K, Ichimiya H, Kamimura N, et al. (2012). Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS. Intern Med 51: 3351-3357.
-
(2012)
Intern Med
, vol.51
, pp. 3351-3357
-
-
Rikimaru, M.1
Ohsawa, Y.2
Wolf, A.M.3
Nishimaki, K.4
Ichimiya, H.5
Kamimura, N.6
-
145
-
-
0029874964
-
Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects
-
Robinson BH, (1996). Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects. Methods Enzymol 264: 454-464.
-
(1996)
Methods Enzymol
, vol.264
, pp. 454-464
-
-
Robinson, B.H.1
-
146
-
-
0025123850
-
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia
-
Robinson BH, Glerum DM, Chow W, Petrova-Benedict R, Lightowlers R, Capaldi R, (1990). The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Pediatr Res 28: 549-555.
-
(1990)
Pediatr Res
, vol.28
, pp. 549-555
-
-
Robinson, B.H.1
Glerum, D.M.2
Chow, W.3
Petrova-Benedict, R.4
Lightowlers, R.5
Capaldi, R.6
-
147
-
-
33847000236
-
Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders
-
Rodriguez MC, MacDonald JR, Mahoney DJ, Parise G, Beal MF, Tarnopolsky MA, (2007). Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve 35: 235-242.
-
(2007)
Muscle Nerve
, vol.35
, pp. 235-242
-
-
Rodriguez, M.C.1
MacDonald, J.R.2
Mahoney, D.J.3
Parise, G.4
Beal, M.F.5
Tarnopolsky, M.A.6
-
148
-
-
0036152036
-
Triacylglycerol infusion does not improve hyperlactemia in resting patients with mitochondrial myopathy due to complex i deficiency
-
Roef MJ, de Meer K, Reijngoud DJ, Straver HW, de Barse M, et al. (2002a). Triacylglycerol infusion does not improve hyperlactemia in resting patients with mitochondrial myopathy due to complex I deficiency. Am J Clin Nutr 75: 228-236.
-
(2002)
Am J Clin Nutr
, vol.75
, pp. 228-236
-
-
Roef, M.J.1
De Meer, K.2
Reijngoud, D.J.3
Straver, H.W.4
De Barse, M.5
-
149
-
-
0036157127
-
Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex i deficiency
-
Roef MJ, de Meer K, Reijngoud DJ, Straver HW, de Barse M, Kalhan SC, et al. (2002b). Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex I deficiency. Am J Clin Nutr 75: 237-244.
-
(2002)
Am J Clin Nutr
, vol.75
, pp. 237-244
-
-
Roef, M.J.1
De Meer, K.2
Reijngoud, D.J.3
Straver, H.W.4
De Barse, M.5
Kalhan, S.C.6
-
150
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, et al. (1997). Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17: 215-217.
-
(1997)
Nat Genet
, vol.17
, pp. 215-217
-
-
Rötig, A.1
De Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
-
151
-
-
84858376962
-
Plasma thiol status is altered in children with mitochondrial diseases
-
Salmi H, Leonard JV, Rahman S, Lapatto R, (2012). Plasma thiol status is altered in children with mitochondrial diseases. Scand J Clin Lab Invest 72: 152-157.
-
(2012)
Scand J Clin Lab Invest
, vol.72
, pp. 152-157
-
-
Salmi, H.1
Leonard, J.V.2
Rahman, S.3
Lapatto, R.4
-
152
-
-
9144268527
-
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
-
Santra S, Gilkerson RW, Davidson M, Schon EA, (2004). Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol 56: 662-669.
-
(2004)
Ann Neurol
, vol.56
, pp. 662-669
-
-
Santra, S.1
Gilkerson, R.W.2
Davidson, M.3
Schon, E.A.4
-
153
-
-
0038230469
-
Supercomplexes in the respiratory chains of yeast and mammalian mitochondria
-
Schagger H, Pfeiffer K, (2000). Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 19: 1777-1783.
-
(2000)
EMBO J
, vol.19
, pp. 1777-1783
-
-
Schagger, H.1
Pfeiffer, K.2
-
154
-
-
33749061065
-
Barth syndrome, a human disorder of cardiolipin metabolism
-
Schlame M, Ren M, (2006). Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett 580: 5450-5455.
-
(2006)
FEBS Lett
, vol.580
, pp. 5450-5455
-
-
Schlame, M.1
Ren, M.2
-
155
-
-
0029005180
-
Riboflavin-responsive complex i deficiency
-
Scholte HR, Busch HF, Bakker HD, Bogaard JM, Luyt-Houwen IE, Kuyt LP, (1995). Riboflavin-responsive complex I deficiency. Biochim Biophys Acta 1271: 75-83.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 75-83
-
-
Scholte, H.R.1
Busch, H.F.2
Bakker, H.D.3
Bogaard, J.M.4
Luyt-Houwen, I.E.5
Kuyt, L.P.6
-
156
-
-
33749024459
-
Yeast models of human mitochondrial diseases: From molecular mechanisms to drug screening
-
Schwimmer C, Rak M, Lefebvre-Legendre L, Duvezin-Caubet S, Plane G, di Rago JP, (2006). Yeast models of human mitochondrial diseases: from molecular mechanisms to drug screening. Biotechnol J 1: 270-281.
-
(2006)
Biotechnol J
, vol.1
, pp. 270-281
-
-
Schwimmer, C.1
Rak, M.2
Lefebvre-Legendre, L.3
Duvezin-Caubet, S.4
Plane, G.5
Di Rago, J.P.6
-
157
-
-
84870320911
-
Genetic causes of cerebral folate deficiency: Clinical, biochemical and therapeutic aspects
-
Serrano M, Perez-Duenas B, Montoya J, Ormazabal A, Artuch R, (2012). Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug Discov Today 17: 1299-1306.
-
(2012)
Drug Discov Today
, vol.17
, pp. 1299-1306
-
-
Serrano, M.1
Perez-Duenas, B.2
Montoya, J.3
Ormazabal, A.4
Artuch, R.5
-
158
-
-
84864112680
-
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
-
Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, et al. (2012). Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet 49: 234-241.
-
(2012)
J Med Genet
, vol.49
, pp. 234-241
-
-
Shamseldin, H.E.1
Alshammari, M.2
Al-Sheddi, T.3
Salih, M.A.4
Alkhalidi, H.5
Kentab, A.6
-
159
-
-
77955821010
-
Choroid plexus failure in the Kearns-Sayre syndrome
-
Spector R, Johanson CE, (2010). Choroid plexus failure in the Kearns-Sayre syndrome. Cerebrospinal Fluid Res 7: 14.
-
(2010)
Cerebrospinal Fluid Res
, vol.7
, pp. 14
-
-
Spector, R.1
Johanson, C.E.2
-
160
-
-
0031440630
-
Treatment of congenital lactic acidosis with dichloroacetate
-
Stacpoole PW, Barnes CL, Hurbanis MD, Cannon SL, Kerr DS, (1997). Treatment of congenital lactic acidosis with dichloroacetate. Arch Dis Child 77: 535-541.
-
(1997)
Arch Dis Child
, vol.77
, pp. 535-541
-
-
Stacpoole, P.W.1
Barnes, C.L.2
Hurbanis, M.D.3
Cannon, S.L.4
Kerr, D.S.5
-
161
-
-
33646830260
-
Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children
-
Stacpoole PW, Kerr DS, Barnes C, Bunch ST, Carney PR, Fennell EM, et al. (2006). Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics 117: 1519-1531.
-
(2006)
Pediatrics
, vol.117
, pp. 1519-1531
-
-
Stacpoole, P.W.1
Kerr, D.S.2
Barnes, C.3
Bunch, S.T.4
Carney, P.R.5
Fennell, E.M.6
-
162
-
-
84869083946
-
Design and implementation of the first randomized controlled trial of coenzyme CoQ(1)(0) in children with primary mitochondrial diseases
-
Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, et al. (2012). Design and implementation of the first randomized controlled trial of coenzyme CoQ(1)(0) in children with primary mitochondrial diseases. Mitochondrion 12: 623-629.
-
(2012)
Mitochondrion
, vol.12
, pp. 623-629
-
-
Stacpoole, P.W.1
Degrauw, T.J.2
Feigenbaum, A.S.3
Hoppel, C.4
Kerr, D.S.5
McCandless, S.E.6
-
163
-
-
84871921370
-
The dynamics of the mitochondrial organelle as a potential therapeutic target
-
Stetler AR, Leak RK, Chen J, (2013). The dynamics of the mitochondrial organelle as a potential therapeutic target. J Cereb Blood Flow Metab 33: 22-32.
-
(2013)
J Cereb Blood Flow Metab
, vol.33
, pp. 22-32
-
-
Stetler, A.R.1
Leak, R.K.2
Chen, J.3
-
164
-
-
1642289587
-
The ketogenic diet increases mitochondrial uncoupling protein levels and activity
-
Sullivan PG, Rippy NA, Dorenbos K, Concepcion RC, Agarwal AK, Rho JM, (2004). The ketogenic diet increases mitochondrial uncoupling protein levels and activity. Ann Neurol 55: 576-580.
-
(2004)
Ann Neurol
, vol.55
, pp. 576-580
-
-
Sullivan, P.G.1
Rippy, N.A.2
Dorenbos, K.3
Concepcion, R.C.4
Agarwal, A.K.5
Rho, J.M.6
-
165
-
-
79959895924
-
Therapy for mitochondrial disorders: Little proof, high research activity, some promise
-
Suomalainen A, (2011). Therapy for mitochondrial disorders: little proof, high research activity, some promise. Semin Fetal Neonatal Med 16: 236-240.
-
(2011)
Semin Fetal Neonatal Med
, vol.16
, pp. 236-240
-
-
Suomalainen, A.1
-
166
-
-
80051667626
-
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: A diagnostic study
-
Suomalainen A, Elo JM, Pietilainen KH, Hakonen AH, Sevastianova K, Korpela M, et al. (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol 10: 806-818.
-
(2011)
Lancet Neurol
, vol.10
, pp. 806-818
-
-
Suomalainen, A.1
Elo, J.M.2
Pietilainen, K.H.3
Hakonen, A.H.4
Sevastianova, K.5
Korpela, M.6
-
167
-
-
0042632468
-
Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
-
Taanman JW, Muddle JR, Muntau AC, (2003). Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum Mol Genet 12: 1839-1845.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1839-1845
-
-
Taanman, J.W.1
Muddle, J.R.2
Muntau, A.C.3
-
168
-
-
70349284435
-
Mitochondrial gene replacement in primate offspring and embryonic stem cells
-
Tachibana M, Sparman M, Sritanaudomchai H, Ma H, Clepper L, Woodward J, et al. (2009). Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature 461: 367-372.
-
(2009)
Nature
, vol.461
, pp. 367-372
-
-
Tachibana, M.1
Sparman, M.2
Sritanaudomchai, H.3
Ma, H.4
Clepper, L.5
Woodward, J.6
-
169
-
-
84873088209
-
Towards germline gene therapy of inherited mitochondrial diseases
-
Tachibana M, Amato P, Sparman M, Woodward J, Sanchis DM, Ma H, et al. (2013). Towards germline gene therapy of inherited mitochondrial diseases. Nature 493: 627-631.
-
(2013)
Nature
, vol.493
, pp. 627-631
-
-
Tachibana, M.1
Amato, P.2
Sparman, M.3
Woodward, J.4
Sanchis, D.M.5
Ma, H.6
-
170
-
-
0033047456
-
Gene shifting: A novel therapy for mitochondrial myopathy
-
Taivassalo T, Fu K, Johns T, Arnold D, Karpati G, Shoubridge EA, (1999). Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 8: 1047-1052.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1047-1052
-
-
Taivassalo, T.1
Fu, K.2
Johns, T.3
Arnold, D.4
Karpati, G.5
Shoubridge, E.A.6
-
171
-
-
0034905495
-
Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects
-
Taivassalo T, Shoubridge EA, Chen J, Kennaway NG, DiMauro S, Arnold DL, et al. (2001). Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol 50: 133-141.
-
(2001)
Ann Neurol
, vol.50
, pp. 133-141
-
-
Taivassalo, T.1
Shoubridge, E.A.2
Chen, J.3
Kennaway, N.G.4
Dimauro, S.5
Arnold, D.L.6
-
172
-
-
33845285545
-
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions
-
Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, et al. (2006). Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 129: 3391-3401.
-
(2006)
Brain
, vol.129
, pp. 3391-3401
-
-
Taivassalo, T.1
Gardner, J.L.2
Taylor, R.W.3
Schaefer, A.M.4
Newman, J.5
Barron, M.J.6
-
173
-
-
0036420547
-
Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria
-
Tanaka M, Borgeld HJ, Zhang J, Muramatsu S, Gong JS, Yoneda M, et al. (2002). Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria. J Biomed Sci 9: 534-541.
-
(2002)
J Biomed Sci
, vol.9
, pp. 534-541
-
-
Tanaka, M.1
Borgeld, H.J.2
Zhang, J.3
Muramatsu, S.4
Gong, J.S.5
Yoneda, M.6
-
174
-
-
0030731246
-
A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies
-
Tarnopolsky MA, Roy BD, MacDonald JR, (1997). A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve 20: 1502-1509.
-
(1997)
Muscle Nerve
, vol.20
, pp. 1502-1509
-
-
Tarnopolsky, M.A.1
Roy, B.D.2
MacDonald, J.R.3
-
175
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor RW, Turnbull DM, (2005). Mitochondrial DNA mutations in human disease. Nat Rev Genet 6: 389-402.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
176
-
-
2942562564
-
Mitochondrial disorders: Prevalence, myths and advances
-
Thorburn DR, (2004). Mitochondrial disorders: prevalence, myths and advances. J Inherit Metab Dis 27: 349-362.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 349-362
-
-
Thorburn, D.R.1
-
177
-
-
0034809484
-
Technical knockout, a Drosophila model of mitochondrial deafness
-
Toivonen JM, O'Dell KM, Petit N, Irvine SC, Knight GK, Lehtonen M, et al. (2001). Technical knockout, a Drosophila model of mitochondrial deafness. Genetics 159: 241-254.
-
(2001)
Genetics
, vol.159
, pp. 241-254
-
-
Toivonen, J.M.1
O'Dell, K.M.2
Petit, N.3
Irvine, S.C.4
Knight, G.K.5
Lehtonen, M.6
-
178
-
-
80051787360
-
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE
-
Torres-Torronteras J, Gomez A, Eixarch H, Palenzuela L, Pizzorno G, et al. (2011). Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Gene Ther 18: 795-806.
-
(2011)
Gene Ther
, vol.18
, pp. 795-806
-
-
Torres-Torronteras, J.1
Gomez, A.2
Eixarch, H.3
Palenzuela, L.4
Pizzorno, G.5
-
179
-
-
29144486726
-
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
-
Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, et al. (2005). Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A 102: 17687-17692.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 17687-17692
-
-
Tyynismaa, H.1
Mjosund, K.P.2
Wanrooij, S.3
Lappalainen, I.4
Ylikallio, E.5
Jalanko, A.6
-
180
-
-
77957743736
-
Mitochondrial myopathy induces a starvation-like response
-
Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkila S, Wenz T, Ruhanen H, et al. (2010). Mitochondrial myopathy induces a starvation-like response. Hum Mol Genet 19: 3948-3958.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3948-3958
-
-
Tyynismaa, H.1
Carroll, C.J.2
Raimundo, N.3
Ahola-Erkkila, S.4
Wenz, T.5
Ruhanen, H.6
-
181
-
-
84869051280
-
Mitochondrial disorders as windows into an ancient organelle
-
Vafai SB, Mootha VK, (2012). Mitochondrial disorders as windows into an ancient organelle. Nature 491: 374-383.
-
(2012)
Nature
, vol.491
, pp. 374-383
-
-
Vafai, S.B.1
Mootha, V.K.2
-
182
-
-
77955427368
-
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy
-
Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, et al. (2010). Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med 16: 869-871.
-
(2010)
Nat Med
, vol.16
, pp. 869-871
-
-
Viscomi, C.1
Burlina, A.B.2
Dweikat, I.3
Savoiardo, M.4
Lamperti, C.5
Hildebrandt, T.6
-
183
-
-
79959314684
-
In vivo correction of COX deficiency by activation of the AMPK/PGC-1alpha axis
-
Viscomi C, Bottani E, Civiletto G, Cerutti R, Moggio M, Fagiolari G, et al. (2011). In vivo correction of COX deficiency by activation of the AMPK/PGC-1alpha axis. Cell Metab 14: 80-90.
-
(2011)
Cell Metab
, vol.14
, pp. 80-90
-
-
Viscomi, C.1
Bottani, E.2
Civiletto, G.3
Cerutti, R.4
Moggio, M.5
Fagiolari, G.6
-
184
-
-
0035003001
-
Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis
-
Vissing J, Gansted U, Quistorff B, (2001). Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis. Ann Neurol 49: 672-676.
-
(2001)
Ann Neurol
, vol.49
, pp. 672-676
-
-
Vissing, J.1
Gansted, U.2
Quistorff, B.3
-
186
-
-
84865838725
-
A small molecule promotes mitochondrial fusion in mammalian cells
-
Wang D, Wang J, Bonamy GM, Meeusen S, Brusch RG, Turk C, et al. (2012). A small molecule promotes mitochondrial fusion in mammalian cells. Angew Chem Int Ed Engl 51: 9302-9305.
-
(2012)
Angew Chem Int Ed Engl
, vol.51
, pp. 9302-9305
-
-
Wang, D.1
Wang, J.2
Bonamy, G.M.3
Meeusen, S.4
Brusch, R.G.5
Turk, C.6
-
187
-
-
34247525092
-
A lethal defect of mitochondrial and peroxisomal fission
-
Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV, (2007). A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 356: 1736-1741.
-
(2007)
N Engl J Med
, vol.356
, pp. 1736-1741
-
-
Waterham, H.R.1
Koster, J.2
Van Roermund, C.W.3
Mooyer, P.A.4
Wanders, R.J.5
Leonard, J.V.6
-
188
-
-
84879821890
-
SURF1 deficiency: A multi-centre natural history study
-
Wedatilake Y, Brown R, McFarland R, Yaplito-Lee J, Morris AA, Champion M, et al. (2013). SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis 8: 96.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 96
-
-
Wedatilake, Y.1
Brown, R.2
McFarland, R.3
Yaplito-Lee, J.4
Morris, A.A.5
Champion, M.6
-
189
-
-
0025091459
-
Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome
-
Weiher H, Noda T, Gray DA, Sharpe AH, Jaenisch R, (1990). Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. Cell 62: 425-434.
-
(1990)
Cell
, vol.62
, pp. 425-434
-
-
Weiher, H.1
Noda, T.2
Gray, D.A.3
Sharpe, A.H.4
Jaenisch, R.5
-
190
-
-
50049118173
-
Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype
-
Wenz T, Diaz F, Spiegelman BM, Moraes CT, (2008). Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell Metab 8: 249-256.
-
(2008)
Cell Metab
, vol.8
, pp. 249-256
-
-
Wenz, T.1
Diaz, F.2
Spiegelman, B.M.3
Moraes, C.T.4
-
191
-
-
2442555970
-
The protein import machinery of mitochondria
-
Wiedemann N, Frazier AE, Pfanner N, (2004). The protein import machinery of mitochondria. J Biol Chem 279: 14473-14476.
-
(2004)
J Biol Chem
, vol.279
, pp. 14473-14476
-
-
Wiedemann, N.1
Frazier, A.E.2
Pfanner, N.3
-
192
-
-
84862979366
-
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
-
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, et al. (2012). Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44: 797-802.
-
(2012)
Nat Genet
, vol.44
, pp. 797-802
-
-
Wortmann, S.B.1
Vaz, F.M.2
Gardeitchik, T.3
Vissers, L.E.4
Renkema, G.H.5
Schuurs-Hoeijmakers, J.H.6
-
193
-
-
33745590836
-
Possibility of transkingdom gene therapy for complex i diseases
-
Yagi T, Seo BB, Nakamaru-Ogiso E, Marella M, Barber-Singh J, Yamashita T, et al. (2006). Possibility of transkingdom gene therapy for complex I diseases. Biochim Biophys Acta 1757: 708-714.
-
(2006)
Biochim Biophys Acta
, vol.1757
, pp. 708-714
-
-
Yagi, T.1
Seo, B.B.2
Nakamaru-Ogiso, E.3
Marella, M.4
Barber-Singh, J.5
Yamashita, T.6
-
194
-
-
33847618832
-
Mitochondrial drug delivery and mitochondrial disease therapy - An approach to liposome-based delivery targeted to mitochondria
-
Yamada Y, Akita H, Kogure K, Kamiya H, Harashima H, (2007). Mitochondrial drug delivery and mitochondrial disease therapy-an approach to liposome-based delivery targeted to mitochondria. Mitochondrion 7: 63-71.
-
(2007)
Mitochondrion
, vol.7
, pp. 63-71
-
-
Yamada, Y.1
Akita, H.2
Kogure, K.3
Kamiya, H.4
Harashima, H.5
-
195
-
-
77649285631
-
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2
-
Yang H, Brosel S, Acin-Perez R, Slavkovich V, Nishino I, Khan R, et al. (2010). Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. Hum Mol Genet 19: 170-180.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 170-180
-
-
Yang, H.1
Brosel, S.2
Acin-Perez, R.3
Slavkovich, V.4
Nishino, I.5
Khan, R.6
-
196
-
-
77955480347
-
Mitochondrial matrix delivery using MITO-Porter, a liposome-based carrier that specifies fusion with mitochondrial membranes
-
Yasuzaki Y, Yamada Y, Harashima H, (2010). Mitochondrial matrix delivery using MITO-Porter, a liposome-based carrier that specifies fusion with mitochondrial membranes. Biochem Biophys Res Commun 397: 181-186.
-
(2010)
Biochem Biophys Res Commun
, vol.397
, pp. 181-186
-
-
Yasuzaki, Y.1
Yamada, Y.2
Harashima, H.3
-
197
-
-
84856092782
-
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice
-
Yatsuga S, Suomalainen A, (2012). Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice. Hum Mol Genet 21: 526-535.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 526-535
-
-
Yatsuga, S.1
Suomalainen, A.2
-
198
-
-
84859430997
-
MELAS: A nationwide prospective cohort study of 96 patients in Japan
-
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, et al. (2012). MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta 1820: 619-624.
-
(2012)
Biochim Biophys Acta
, vol.1820
, pp. 619-624
-
-
Yatsuga, S.1
Povalko, N.2
Nishioka, J.3
Katayama, K.4
Kakimoto, N.5
Matsuishi, T.6
-
199
-
-
53249091836
-
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
-
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, et al.(2008). Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet 83: 489-494.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 489-494
-
-
Zeharia, A.1
Shaag, A.2
Houtkooper, R.H.3
Hindi, T.4
De Lonlay, P.5
Erez, G.6
-
200
-
-
48049104077
-
Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice
-
Zhou X, Solaroli N, Bjerke M, Stewart JB, Rozell B, Johansson M, et al. (2008). Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice. Hum Mol Genet 17: 2329-2335.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2329-2335
-
-
Zhou, X.1
Solaroli, N.2
Bjerke, M.3
Stewart, J.B.4
Rozell, B.5
Johansson, M.6
-
201
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, et al. (2004). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36: 449-451.
-
(2004)
Nat Genet
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
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