-
2
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S., and Schon E.A. Mitochondrial respiratory-chain diseases. N Engl J Med 348 (2003) 2656-2668
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
3
-
-
38449112085
-
Mitochondrial mutations: genotype to phenotype
-
Schon E.A., and DiMauro S. Mitochondrial mutations: genotype to phenotype. Novartis Found Symp 287 (2007) 214-225
-
(2007)
Novartis Found Symp
, vol.287
, pp. 214-225
-
-
Schon, E.A.1
DiMauro, S.2
-
4
-
-
34250676955
-
Mitochondrial diseases: therapeutic approaches
-
DiMauro S., and Mancuso M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 27 (2007) 125-137
-
(2007)
Biosci Rep
, vol.27
, pp. 125-137
-
-
DiMauro, S.1
Mancuso, M.2
-
6
-
-
0141991065
-
116th ENMC International Workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands
-
European Neuromuscular Center
-
Chinnery P.F., Bindoff L.A., and European Neuromuscular Center. 116th ENMC International Workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands. Neuromuscul Disord 13 (2003) 757-764
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 757-764
-
-
Chinnery, P.F.1
Bindoff, L.A.2
-
7
-
-
0347093438
-
New approaches to the treatment of mitochondrial disorders
-
Chinnery P.F. New approaches to the treatment of mitochondrial disorders. Reprod Biomed Online 8 (2004) 16-23
-
(2004)
Reprod Biomed Online
, vol.8
, pp. 16-23
-
-
Chinnery, P.F.1
-
8
-
-
2342584598
-
Mitochondrial encephalomyopathies: therapeutic approach
-
DiMauro S., Mancuso M., and Naini A. Mitochondrial encephalomyopathies: therapeutic approach. Ann N Y Acad Sci 1011 (2004) 232-245
-
(2004)
Ann N Y Acad Sci
, vol.1011
, pp. 232-245
-
-
DiMauro, S.1
Mancuso, M.2
Naini, A.3
-
9
-
-
33748089976
-
Approaches to the treatment of mitochondrial diseases
-
DiMauro S., Hirano M., and Schon E.A. Approaches to the treatment of mitochondrial diseases. Muscle Nerve 34 (2006) 265-283
-
(2006)
Muscle Nerve
, vol.34
, pp. 265-283
-
-
DiMauro, S.1
Hirano, M.2
Schon, E.A.3
-
10
-
-
39049156470
-
Prevalence of mitochondrial DNA disease in adults
-
Schaefer A.M., McFarland R., Blakely E.L., et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63 (2008) 35-39
-
(2008)
Ann Neurol
, vol.63
, pp. 35-39
-
-
Schaefer, A.M.1
McFarland, R.2
Blakely, E.L.3
-
11
-
-
0030926104
-
Reversal of a mitochondrial DNA defect in human skeletal muscle
-
Clark K.M., Bindoff L.A., Lightowlers R.N., et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 16 (1997) 222-224
-
(1997)
Nat Genet
, vol.16
, pp. 222-224
-
-
Clark, K.M.1
Bindoff, L.A.2
Lightowlers, R.N.3
-
12
-
-
0030612535
-
Coenzyme Q10 treatment in mitochondrial encephalomyopathies: short-term double-blind, crossover study
-
Chen R.S., Huang C.C., and Chu N.S. Coenzyme Q10 treatment in mitochondrial encephalomyopathies: short-term double-blind, crossover study. Eur Neurol 37 (1997) 212-218
-
(1997)
Eur Neurol
, vol.37
, pp. 212-218
-
-
Chen, R.S.1
Huang, C.C.2
Chu, N.S.3
-
13
-
-
33847473087
-
Coenzyme Q10 in ophthalmoplegia plus: a double blind cross over therapeutic trial
-
(abstract)
-
Muller W., Reimers C.D., Berninger T., Boergen K.-P., Frey A., Zrenner E., et al. Coenzyme Q10 in ophthalmoplegia plus: a double blind cross over therapeutic trial. J Neurol Sci 98 Suppl (1990) 442 (abstract)
-
(1990)
J Neurol Sci
, vol.98
, Issue.SUPPL
, pp. 442
-
-
Muller, W.1
Reimers, C.D.2
Berninger, T.3
Boergen, K.-P.4
Frey, A.5
Zrenner, E.6
-
14
-
-
0030731246
-
A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies
-
Tarnopolsky M.A., Roy B.D., and MacDonald J.R. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve 20 (1997) 1502-1509
-
(1997)
Muscle Nerve
, vol.20
, pp. 1502-1509
-
-
Tarnopolsky, M.A.1
Roy, B.D.2
MacDonald, J.R.3
-
15
-
-
0034642154
-
A placebo-controlled crossover trial of creatine in mitochondrial diseases
-
Klopstock T., Querner V., Schmidt F., et al. A placebo-controlled crossover trial of creatine in mitochondrial diseases. Neurology 55 (2000) 1748-1751
-
(2000)
Neurology
, vol.55
, pp. 1748-1751
-
-
Klopstock, T.1
Querner, V.2
Schmidt, F.3
-
16
-
-
0029072626
-
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
-
De Stefano N., Matthews P.M., Ford B., Genge A., Karpati G., and Arnold D.L. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 45 (1995) 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
-
17
-
-
0037241026
-
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial
-
Liet J.M., Pelletier V., Robinson B.H., et al. The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial. J Pediatr 142 (2003) 62-66
-
(2003)
J Pediatr
, vol.142
, pp. 62-66
-
-
Liet, J.M.1
Pelletier, V.2
Robinson, B.H.3
-
18
-
-
33646202306
-
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
-
Kaufmann P., Engelstad K., Wei Y., et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 66 (2006) 324-330
-
(2006)
Neurology
, vol.66
, pp. 324-330
-
-
Kaufmann, P.1
Engelstad, K.2
Wei, Y.3
-
19
-
-
0027178828
-
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts: an in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency
-
Tein I., DiMauro S., Xie Z.W., and De Vivo D.C. Valproic acid impairs carnitine uptake in cultured human skin fibroblasts: an in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency. Pediatr Res 34 (1993) 281-287
-
(1993)
Pediatr Res
, vol.34
, pp. 281-287
-
-
Tein, I.1
DiMauro, S.2
Xie, Z.W.3
De Vivo, D.C.4
-
20
-
-
0033913992
-
Mitochondrial disease represents a risk factor for valproate induced fulminant liver failure
-
Krähenbühl S., Brandner S., Kleinle S., Liechti S., and Straumann D. Mitochondrial disease represents a risk factor for valproate induced fulminant liver failure. Liver 20 (2000) 346-349
-
(2000)
Liver
, vol.20
, pp. 346-349
-
-
Krähenbühl, S.1
Brandner, S.2
Kleinle, S.3
Liechti, S.4
Straumann, D.5
-
21
-
-
33746882137
-
POLG1 mutations associated with progressive encephalopathy in childhood
-
Kollberg G., Moslemi A.R., Darin N., et al. POLG1 mutations associated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 65 (2006) 758-768
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 758-768
-
-
Kollberg, G.1
Moslemi, A.R.2
Darin, N.3
-
22
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
-
Tzoulis C., Engelsen B.A., Telstad W., et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129 (2006) 1685-1692
-
(2006)
Brain
, vol.129
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
-
23
-
-
33644799311
-
Levetiracetam: antiepileptic properties and protective effects on mitochondrial dysfunction in experimental status epilepticus
-
Gibbs J.E., Walker M.C., and Cock H.R. Levetiracetam: antiepileptic properties and protective effects on mitochondrial dysfunction in experimental status epilepticus. Epilepsia 47 (2006) 469-478
-
(2006)
Epilepsia
, vol.47
, pp. 469-478
-
-
Gibbs, J.E.1
Walker, M.C.2
Cock, H.R.3
-
24
-
-
33846212708
-
Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects
-
Kang H.C., Lee Y.M., Kim H.D., Lee J.S., and Slama A. Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia 48 (2007) 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
-
25
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
-
Luoma P., Melberg A., Rinne J.O., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study. Lancet 364 (2004) 875-882
-
(2004)
Lancet
, vol.364
, pp. 875-882
-
-
Luoma, P.1
Melberg, A.2
Rinne, J.O.3
-
27
-
-
0038813819
-
A review of cochlear implantation in mitochondrial sensorineural hearing loss
-
Sinnathuray A.R., Raut V., Awa A., Magee A., and Toner J.G. A review of cochlear implantation in mitochondrial sensorineural hearing loss. Otol Neurotol 24 (2003) 418-426
-
(2003)
Otol Neurotol
, vol.24
, pp. 418-426
-
-
Sinnathuray, A.R.1
Raut, V.2
Awa, A.3
Magee, A.4
Toner, J.G.5
-
28
-
-
0031914941
-
Cochlear origin of hearing loss in MELAS syndrome
-
Sue C.M., Lipsett L.J., Crimmins D.S., et al. Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 43 (1998) 350-359
-
(1998)
Ann Neurol
, vol.43
, pp. 350-359
-
-
Sue, C.M.1
Lipsett, L.J.2
Crimmins, D.S.3
-
29
-
-
15044361428
-
Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders
-
Yu Wai Man C.Y., Chinnery P.F., and Griffiths P.G. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscul Disord 15 (2005) 17-23
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 17-23
-
-
Yu Wai Man, C.Y.1
Chinnery, P.F.2
Griffiths, P.G.3
-
30
-
-
33646413955
-
Assessment of visual function in chronic progressive external ophthalmoplegia
-
Yu Wai Man C.Y., Smith T., Chinnery P.F., Turnbull D.M., and Griffiths P.G. Assessment of visual function in chronic progressive external ophthalmoplegia. Eye 20 (2006) 564-568
-
(2006)
Eye
, vol.20
, pp. 564-568
-
-
Yu Wai Man, C.Y.1
Smith, T.2
Chinnery, P.F.3
Turnbull, D.M.4
Griffiths, P.G.5
-
32
-
-
0033056574
-
Cataracts in systemic diseases and syndromes
-
Hutnik C.M., and Nichols B.D. Cataracts in systemic diseases and syndromes. Curr Opin Ophthalmol 10 (1999) 22-28
-
(1999)
Curr Opin Ophthalmol
, vol.10
, pp. 22-28
-
-
Hutnik, C.M.1
Nichols, B.D.2
-
33
-
-
10644279893
-
Gastrointestinal complications of mitochondrial disease
-
Hom X.B., and Lavine J.E. Gastrointestinal complications of mitochondrial disease. Mitochondrion 4 (2004) 601-607
-
(2004)
Mitochondrion
, vol.4
, pp. 601-607
-
-
Hom, X.B.1
Lavine, J.E.2
-
34
-
-
2642536829
-
Mitochondrial Diabetes French Study Group. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (maternally inherited diabetes and deafness or MIDD)
-
Guillausseau P.J., Dubois-Laforgue D., Massin P., et al. Mitochondrial Diabetes French Study Group. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (maternally inherited diabetes and deafness or MIDD). Diabetes Metab 30 (2004) 181-186
-
(2004)
Diabetes Metab
, vol.30
, pp. 181-186
-
-
Guillausseau, P.J.1
Dubois-Laforgue, D.2
Massin, P.3
-
35
-
-
0037319721
-
Cardiomyopathy in children with mitochondrial disease: clinical course and cardiological findings
-
Holmgren D., Wåhlander H., Eriksson B.O., Oldfors A., Holme E., and Tulinius M. Cardiomyopathy in children with mitochondrial disease: clinical course and cardiological findings. Eur Heart J 24 (2003) 280-288
-
(2003)
Eur Heart J
, vol.24
, pp. 280-288
-
-
Holmgren, D.1
Wåhlander, H.2
Eriksson, B.O.3
Oldfors, A.4
Holme, E.5
Tulinius, M.6
-
36
-
-
0037319977
-
Mitochondria and the heart
-
Bindoff L. Mitochondria and the heart. Eur Heart J 24 (2003) 221-224
-
(2003)
Eur Heart J
, vol.24
, pp. 221-224
-
-
Bindoff, L.1
-
37
-
-
0034783487
-
Heart transplantation in children with mitochondrial cardiomyopathy
-
Bonnet D., Rustin P., Rötig A., et al. Heart transplantation in children with mitochondrial cardiomyopathy. Heart 86 (2001) 570-573
-
(2001)
Heart
, vol.86
, pp. 570-573
-
-
Bonnet, D.1
Rustin, P.2
Rötig, A.3
-
38
-
-
29144521832
-
Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome
-
Bhati R.S., Sheridan B.C., Mill M.R., and Selzman C.H. Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome. J Heart Lung Transplant 24 (2005) 2286-2289
-
(2005)
J Heart Lung Transplant
, vol.24
, pp. 2286-2289
-
-
Bhati, R.S.1
Sheridan, B.C.2
Mill, M.R.3
Selzman, C.H.4
-
39
-
-
34147111367
-
Successful cardiac transplantation in Barth syndrome: single-centre experience of four patients
-
Mangat J., Lunnon-Wood T., Rees P., Elliott M., and Burch M. Successful cardiac transplantation in Barth syndrome: single-centre experience of four patients. Pediatr Transplant 11 (2007) 327-331
-
(2007)
Pediatr Transplant
, vol.11
, pp. 327-331
-
-
Mangat, J.1
Lunnon-Wood, T.2
Rees, P.3
Elliott, M.4
Burch, M.5
-
40
-
-
0036132663
-
Hypertrophic cardiomyopathy and mtDNA depletion: successful treatment with heart transplantation
-
Santorelli F.M., Gagliardi M.G., Dionisi-Vici C., et al. Hypertrophic cardiomyopathy and mtDNA depletion: successful treatment with heart transplantation. Neuromuscul Disord 12 (2002) 56-59
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 56-59
-
-
Santorelli, F.M.1
Gagliardi, M.G.2
Dionisi-Vici, C.3
-
41
-
-
39649120348
-
Inherited mitochondrial diseases of DNA replication
-
Copeland W.C. Inherited mitochondrial diseases of DNA replication. Annu Rev Med 59 (2008) 131-146
-
(2008)
Annu Rev Med
, vol.59
, pp. 131-146
-
-
Copeland, W.C.1
-
42
-
-
53049089623
-
Neurological phenotype is an important predictor of long term outcome in mitochondrial DNA depletion resulting from deoxyguanosine kinase deficiency
-
(in press)
-
Dimmock D.P., Dunn J.K., Feigenbaum A., et al. Neurological phenotype is an important predictor of long term outcome in mitochondrial DNA depletion resulting from deoxyguanosine kinase deficiency. Liver Transpl (2008) (in press)
-
(2008)
Liver Transpl
-
-
Dimmock, D.P.1
Dunn, J.K.2
Feigenbaum, A.3
-
43
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
-
Horvath R., Hudson G., Ferrari G., et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 129 (2006) 1674-1684
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
44
-
-
0001657015
-
Mitochondrial diseases
-
Swaiman K.F., and Ashwal S. (Eds), Mosby, St Louis
-
De Vivo D.C., and DiMauro S. Mitochondrial diseases. In: Swaiman K.F., and Ashwal S. (Eds). Pediatric neurology: principles & practice. 3rd ed. (1999), Mosby, St Louis 494-509
-
(1999)
Pediatric neurology: principles & practice. 3rd ed.
, pp. 494-509
-
-
De Vivo, D.C.1
DiMauro, S.2
-
45
-
-
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
-
46
-
-
33947197640
-
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis
-
Yavuz H., Ozel A., Christensen M., et al. Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch Neurol 64 (2007) 435-438
-
(2007)
Arch Neurol
, vol.64
, pp. 435-438
-
-
Yavuz, H.1
Ozel, A.2
Christensen, M.3
-
47
-
-
33750306390
-
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
-
Hirano M., Martí R., Casali C., et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 67 (2006) 1458-1460
-
(2006)
Neurology
, vol.67
, pp. 1458-1460
-
-
Hirano, M.1
Martí, R.2
Casali, C.3
-
48
-
-
33847404036
-
Mutations in coenzyme Q10 biosynthetic genes
-
DiMauro S., Quinzii C.M., and Hirano M. Mutations in coenzyme Q10 biosynthetic genes. J Clin Invest 117 (2007) 587-589
-
(2007)
J Clin Invest
, vol.117
, pp. 587-589
-
-
DiMauro, S.1
Quinzii, C.M.2
Hirano, M.3
-
49
-
-
34248175243
-
The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease
-
Haas R.H. The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease. Mitochondrion 7 Suppl (2007) S136-S145
-
(2007)
Mitochondrion
, vol.7
, Issue.SUPPL
-
-
Haas, R.H.1
-
50
-
-
33746048422
-
Clinical trials of coenzyme Q10 in neurological disorders
-
Shults C.W., and Haas R. Clinical trials of coenzyme Q10 in neurological disorders. Biofactors 25 (2005) 117-126
-
(2005)
Biofactors
, vol.25
, pp. 117-126
-
-
Shults, C.W.1
Haas, R.2
-
51
-
-
34248159898
-
Mitochondrial targeting of quinones: therapeutic implications
-
Cochemé H.M., Kelso G.F., James A.M., et al. Mitochondrial targeting of quinones: therapeutic implications. Mitochondrion 7 Suppl (2007) S94-S102
-
(2007)
Mitochondrion
, vol.7
, Issue.SUPPL
-
-
Cochemé, H.M.1
Kelso, G.F.2
James, A.M.3
-
52
-
-
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., and Harashima H. Mitochondrial drug delivery and mitochondrial disease therapy: an approach to liposome-based delivery targeted to mitochondria. Mitochondrion 7 (2007) 63-71
-
(2007)
Mitochondrion
, vol.7
, pp. 63-71
-
-
Yamada, Y.1
Akita, H.2
Kogure, K.3
Kamiya, H.4
Harashima, H.5
-
53
-
-
0034730011
-
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
-
Rötig A., Appelkvist E.L., Geromel V., et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 356 (2000) 391-395
-
(2000)
Lancet
, vol.356
, pp. 391-395
-
-
Rötig, A.1
Appelkvist, E.L.2
Geromel, V.3
-
54
-
-
0036895391
-
Coenzyme Q-responsive Leigh's encephalopathy in two sisters
-
Van Maldergem L., Trijbels F., DiMauro S., et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 52 (2002) 750-754
-
(2002)
Ann Neurol
, vol.52
, pp. 750-754
-
-
Van Maldergem, L.1
Trijbels, F.2
DiMauro, S.3
-
55
-
-
0035859689
-
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
-
Di Giovanni S., Mirabella M., Spinazzola A., et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 57 (2001) 515-518
-
(2001)
Neurology
, vol.57
, pp. 515-518
-
-
Di Giovanni, S.1
Mirabella, M.2
Spinazzola, A.3
-
56
-
-
31544480133
-
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
-
Quinzii C., Naini A., Salviati L., et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78 (2006) 345-349
-
(2006)
Am J Hum Genet
, vol.78
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
-
57
-
-
33845232634
-
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
-
López L.C., Schuelke M., Quinzii C.M., et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79 (2006) 1125-1130
-
(2006)
Am J Hum Genet
, vol.79
, pp. 1125-1130
-
-
López, L.C.1
Schuelke, M.2
Quinzii, C.M.3
-
58
-
-
33847347629
-
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
-
Mollet J., Giurgea I., Schlemmer D., et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 117 (2007) 765-772
-
(2007)
J Clin Invest
, vol.117
, pp. 765-772
-
-
Mollet, J.1
Giurgea, I.2
Schlemmer, D.3
-
59
-
-
44949220201
-
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency
-
Quinzii C.M., López L.C., Von-Moltke J., et al. Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J 22 (2008) 1874-1885
-
(2008)
FASEB J
, vol.22
, pp. 1874-1885
-
-
Quinzii, C.M.1
López, L.C.2
Von-Moltke, J.3
-
60
-
-
33645068499
-
Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS
-
Ferrante K.L., Shefner J., Zhang H., et al. Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS. Neurology 65 (2005) 1834-1836
-
(2005)
Neurology
, vol.65
, pp. 1834-1836
-
-
Ferrante, K.L.1
Shefner, J.2
Zhang, H.3
-
61
-
-
13244277454
-
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
-
Quinzii C.M., Kattah A.G., Naini A., et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64 (2005) 539-541
-
(2005)
Neurology
, vol.64
, pp. 539-541
-
-
Quinzii, C.M.1
Kattah, A.G.2
Naini, A.3
-
62
-
-
41149121580
-
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
-
Lagier-Tourenne C., Tazir M., López L.C., et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 82 (2008) 661-672
-
(2008)
Am J Hum Genet
, vol.82
, pp. 661-672
-
-
Lagier-Tourenne, C.1
Tazir, M.2
López, L.C.3
-
63
-
-
0037426430
-
Cerebellar ataxia and coenzyme Q10 deficiency
-
Lamperti C., Naini A., Hirano M., et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60 (2003) 1206-1208
-
(2003)
Neurology
, vol.60
, pp. 1206-1208
-
-
Lamperti, C.1
Naini, A.2
Hirano, M.3
-
64
-
-
33644921803
-
Coenzyme Q10 deficiency may cause isolated myopathy
-
Horvath R., Schneiderat P., Schoser B.G.H., et al. Coenzyme Q10 deficiency may cause isolated myopathy. Neurology 66 (2006) 253-255
-
(2006)
Neurology
, vol.66
, pp. 253-255
-
-
Horvath, R.1
Schneiderat, P.2
Schoser, B.G.H.3
-
65
-
-
34248171499
-
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
-
Gempel K., Topaloglu H., Talim B., et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130 (2007) 2037-2044
-
(2007)
Brain
, vol.130
, pp. 2037-2044
-
-
Gempel, K.1
Topaloglu, H.2
Talim, B.3
-
66
-
-
34547809952
-
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
-
Olsen R.K., Olpin S.E., Andresen B.S., et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130 (2007) 2045-2054
-
(2007)
Brain
, vol.130
, pp. 2045-2054
-
-
Olsen, R.K.1
Olpin, S.E.2
Andresen, B.S.3
-
67
-
-
34548606803
-
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomized, placebo-controlled trial
-
Di Prospero N.A., Baker A., Jeffries N., and Fischbeck K.H. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomized, placebo-controlled trial. Lancet Neurol 6 (2007) 878-886
-
(2007)
Lancet Neurol
, vol.6
, pp. 878-886
-
-
Di Prospero, N.A.1
Baker, A.2
Jeffries, N.3
Fischbeck, K.H.4
-
68
-
-
0022545789
-
Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study
-
Argov Z., Bank W.J., Maris J., et al. Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study. Ann Neurol 19 (1986) 598-602
-
(1986)
Ann Neurol
, vol.19
, pp. 598-602
-
-
Argov, Z.1
Bank, W.J.2
Maris, J.3
-
69
-
-
0033659683
-
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
-
Keightley J.A., Anitori R., Burton M.D., Quan F., Buist N.R., and Kennaway N.G. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 67 (2000) 1400-1410
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1400-1410
-
-
Keightley, J.A.1
Anitori, R.2
Burton, M.D.3
Quan, F.4
Buist, N.R.5
Kennaway, N.G.6
-
70
-
-
1842433755
-
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
-
Freisinger P., Horvath R., Macmillan C., Peters J., and Jaksch M. Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?. J Inherit Metab Dis 27 (2004) 67-79
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 67-79
-
-
Freisinger, P.1
Horvath, R.2
Macmillan, C.3
Peters, J.4
Jaksch, M.5
-
71
-
-
0042632468
-
Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
-
Taanman J.W., Muddle J.R., and Muntau A.C. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum Mol Genet 12 (2003) 1839-1845
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1839-1845
-
-
Taanman, J.W.1
Muddle, J.R.2
Muntau, A.C.3
-
72
-
-
25444474703
-
Mitochondria take center stage in aging and neurodegeneration
-
Beal M.F. Mitochondria take center stage in aging and neurodegeneration. Ann Neurol 58 (2005) 495-505
-
(2005)
Ann Neurol
, vol.58
, pp. 495-505
-
-
Beal, M.F.1
-
73
-
-
34248187134
-
Mitochondrial dysfunction, free radical generation and cellular stress response in neurodegenerative disorders
-
Mancuso C., Scapagini G., Currò D., et al. Mitochondrial dysfunction, free radical generation and cellular stress response in neurodegenerative disorders. Front Biosci 12 (2007) 1107-1123
-
(2007)
Front Biosci
, vol.12
, pp. 1107-1123
-
-
Mancuso, C.1
Scapagini, G.2
Currò, D.3
-
74
-
-
33847000236
-
Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders
-
Rodriguez M.C., MacDonald J.R., Mahoney D.J., Parise G., Beal M.F., and Tarnopolsky M.A. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve 35 (2007) 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
-
75
-
-
0031038812
-
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
-
Taylor R.W., Chinnery P.F., Turnbull D.M., and Lightowlers R.N. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 15 (1997) 212-215
-
(1997)
Nat Genet
, vol.15
, pp. 212-215
-
-
Taylor, R.W.1
Chinnery, P.F.2
Turnbull, D.M.3
Lightowlers, R.N.4
-
76
-
-
0033374355
-
Peptide nucleic acid delivery to human mitochondria [Erratum in: Gene Ther 2000;7:813]
-
Chinnery P.F., Taylor R.W., Diekert K., Lill R., Turnbull D.M., and Lightowlers R.N. Peptide nucleic acid delivery to human mitochondria [Erratum in: Gene Ther 2000;7:813]. Gene Ther 6 (1999) 1919-1928
-
(1999)
Gene Ther
, vol.6
, pp. 1919-1928
-
-
Chinnery, P.F.1
Taylor, R.W.2
Diekert, K.3
Lill, R.4
Turnbull, D.M.5
Lightowlers, R.N.6
-
77
-
-
9644264375
-
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells
-
Kolesnikova O.A., Entelis N.S., Jacquin-Becker C., et al. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet 13 (2004) 2519-2534
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2519-2534
-
-
Kolesnikova, O.A.1
Entelis, N.S.2
Jacquin-Becker, C.3
-
78
-
-
0033515548
-
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
-
Manfredi G., Gupta N., Vazquez-Memije M.E., et al. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 274 (1999) 9386-9391
-
(1999)
J Biol Chem
, vol.274
, pp. 9386-9391
-
-
Manfredi, G.1
Gupta, N.2
Vazquez-Memije, M.E.3
-
79
-
-
9144268527
-
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
-
Santra S., Gilkerson R.W., Davidson M., and Schon E.A. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol 56 (2004) 662-669
-
(2004)
Ann Neurol
, vol.56
, pp. 662-669
-
-
Santra, S.1
Gilkerson, R.W.2
Davidson, M.3
Schon, E.A.4
-
80
-
-
33846852428
-
Ketones inhibit mitochondrial production of reactive oxygen species production following glutamate excitotoxicity by increasing NADH oxidation
-
Maalouf M., Sullivan P.G., Davis L., Kim D.Y., and Rho J.M. Ketones inhibit mitochondrial production of reactive oxygen species production following glutamate excitotoxicity by increasing NADH oxidation. Neuroscience 145 (2007) 256-264
-
(2007)
Neuroscience
, vol.145
, pp. 256-264
-
-
Maalouf, M.1
Sullivan, P.G.2
Davis, L.3
Kim, D.Y.4
Rho, J.M.5
-
81
-
-
0033047456
-
Gene shifting: a novel therapy for mitochondrial myopathy
-
Taivassalo T., Fu K., Johns T., Arnold D., Karpati G., and Shoubridge E.A. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 8 (1999) 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
-
82
-
-
0033401240
-
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Andrews R.M., Griffiths P.G., Chinnery P.F., and Turnbull D.M. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 13 (1999) 769-772
-
(1999)
Eye
, vol.13
, pp. 769-772
-
-
Andrews, R.M.1
Griffiths, P.G.2
Chinnery, P.F.3
Turnbull, D.M.4
-
83
-
-
0033811149
-
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA
-
Karadimas C.L., Greenstein P., Sue C.M., et al. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology 55 (2000) 644-649
-
(2000)
Neurology
, vol.55
, pp. 644-649
-
-
Karadimas, C.L.1
Greenstein, P.2
Sue, C.M.3
-
84
-
-
34250617518
-
Experimental strategies towards treating mitochondrial DNA disorders
-
Gardner J.L., Craven L., Turnbull D.M., and Taylor R.W. Experimental strategies towards treating mitochondrial DNA disorders. Biosci Rep 27 (2007) 139-150
-
(2007)
Biosci Rep
, vol.27
, pp. 139-150
-
-
Gardner, J.L.1
Craven, L.2
Turnbull, D.M.3
Taylor, R.W.4
-
85
-
-
33845288002
-
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
-
Jeppesen T.D., Schwartz M., Olsen D.B., et al. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain 129 (2006) 3402-3412
-
(2006)
Brain
, vol.129
, pp. 3402-3412
-
-
Jeppesen, T.D.1
Schwartz, M.2
Olsen, D.B.3
-
86
-
-
33845285545
-
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions
-
Taivassalo T., Gardner J.L., Taylor R.W., et al. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 129 (2006) 3391-3401
-
(2006)
Brain
, vol.129
, pp. 3391-3401
-
-
Taivassalo, T.1
Gardner, J.L.2
Taylor, R.W.3
-
87
-
-
33646874604
-
Transmission of mitochondrial DNA disorders: possibilities for the future
-
Brown D.T., Herbert M., Lamb V.K., et al. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 368 (2006) 87-89
-
(2006)
Lancet
, vol.368
, pp. 87-89
-
-
Brown, D.T.1
Herbert, M.2
Lamb, V.K.3
-
88
-
-
33845204082
-
Analysis of oocyte physiology to improve cryopreservation procedures
-
Gardner D.K., Sheehan C.B., Rienzi L., Katz-Jaffe M., and Larman M.G. Analysis of oocyte physiology to improve cryopreservation procedures. Theriogenology 67 (2007) 64-72
-
(2007)
Theriogenology
, vol.67
, pp. 64-72
-
-
Gardner, D.K.1
Sheehan, C.B.2
Rienzi, L.3
Katz-Jaffe, M.4
Larman, M.G.5
-
89
-
-
30144439385
-
Prenatal and preimplantation genetic diagnosis: decision tree, new practices? [In French]
-
Steffann J., Feyereisen E., Kerbrat V., Romana S., and Frydman N. Prenatal and preimplantation genetic diagnosis: decision tree, new practices? [In French]. Med Sci (Paris) 21 (2005) 987-992
-
(2005)
Med Sci (Paris)
, vol.21
, pp. 987-992
-
-
Steffann, J.1
Feyereisen, E.2
Kerbrat, V.3
Romana, S.4
Frydman, N.5
-
90
-
-
0030790458
-
Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs
-
Cohen J., Scott R., Schimmel T., Levron J., and Willadsen S. Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs. Lancet 350 (1997) 186-187
-
(1997)
Lancet
, vol.350
, pp. 186-187
-
-
Cohen, J.1
Scott, R.2
Schimmel, T.3
Levron, J.4
Willadsen, S.5
-
91
-
-
0033607643
-
Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte
-
Roberts R.M. Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte. Am J Med Genet 87 (1999) 265-266
-
(1999)
Am J Med Genet
, vol.87
, pp. 265-266
-
-
Roberts, R.M.1
-
92
-
-
0020519385
-
Nuclear transplantation in the mouse embryo by microsurgery and cell fusion
-
McGrath J., and Solter D. Nuclear transplantation in the mouse embryo by microsurgery and cell fusion. Science 220 (1983) 1300-1302
-
(1983)
Science
, vol.220
, pp. 1300-1302
-
-
McGrath, J.1
Solter, D.2
-
93
-
-
33745916750
-
Mitochondrial disease in adults: a scale to monitor progression and treatment
-
Schaefer A.M., Phoenix C., Elson J.L., McFarland R., Chinnery P.F., and Turnbull D.M. Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology 66 (2006) 1932-1934
-
(2006)
Neurology
, vol.66
, pp. 1932-1934
-
-
Schaefer, A.M.1
Phoenix, C.2
Elson, J.L.3
McFarland, R.4
Chinnery, P.F.5
Turnbull, D.M.6
-
94
-
-
33845202246
-
A scale to monitor progression and treatment of mitochondrial disease in children
-
Phoenix C., Schaefer A.M., Elson J.L., et al. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord 16 (2006) 814-820
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 814-820
-
-
Phoenix, C.1
Schaefer, A.M.2
Elson, J.L.3
|