-
1
-
-
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. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 2003; 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
-
2
-
-
0032920837
-
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
-
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 1999; 8: 743-9.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 743-749
-
-
Allikmets, R.1
Raskind, W.H.2
Hutchinson, A.3
Schueck, N.D.4
Dean, M.5
Koeller, D.M.6
-
3
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
De Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
-
4
-
-
0033619147
-
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999; 341: 1037-44.
-
(1999)
N Engl J Med
, vol.341
, pp. 1037-1044
-
-
Andreu, A.L.1
Hanna, M.G.2
Reichmann, H.3
Bruno, C.4
Penn, A.S.5
Tanji, K.6
-
5
-
-
0030447980
-
Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution
-
Ankel-Simons F, Cummins JM. Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution. Proc Natl Acad Sci USA 1996; 93: 13859-63.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 13859-13863
-
-
Ankel-Simons, F.1
Cummins, J.M.2
-
6
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 2003; 72: 101-14.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
Glerum, D.M.4
Hoffbuhr, K.C.5
Leary, S.C.6
-
7
-
-
0036461078
-
A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene
-
Aung T, Ocaka L, Ebenezer ND, Morris AG, Krawczak M, Thiselton DL, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 2002; 110: 52-6.
-
(2002)
Hum Genet
, vol.110
, pp. 52-56
-
-
Aung, T.1
Ocaka, L.2
Ebenezer, N.D.3
Morris, A.G.4
Krawczak, M.5
Thiselton, D.L.6
-
8
-
-
0031796949
-
Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation
-
Austin SA, Vriesendorp FJ, Thandroyen FT, Hecht JT, Jones OT, Johns DR. Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation. Neurology 1998; 51: 1447-50.
-
(1998)
Neurology
, vol.51
, pp. 1447-1450
-
-
Austin, S.A.1
Vriesendorp, F.J.2
Thandroyen, F.T.3
Hecht, J.T.4
Jones, O.T.5
Johns, D.R.6
-
9
-
-
0026530174
-
Oxygen activation and the conservation of energy in cell respiration
-
Babcock GT, Wikström M. Oxygen activation and the conservation of energy in cell respiration. Nature 1992; 356: 301-9.
-
(1992)
Nature
, vol.356
, pp. 301-309
-
-
Babcock, G.T.1
Wikström, M.2
-
10
-
-
0027228506
-
Mitochondrial disorders: Analysis of their clinical and imaging characteristics
-
Barkovich A, Good W, Koch T, Berg B. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993; 14: 1119-37.
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 1119-1137
-
-
Barkovich, A.1
Good, W.2
Koch, T.3
Berg, B.4
-
11
-
-
0036712593
-
Hereditary paraganglioma targets diverse paraganglia
-
Baysal BE. Hereditary paraganglioma targets diverse paraganglia. J Med Genet 2002; 39: 617-22.
-
(2002)
J Med Genet
, vol.39
, pp. 617-622
-
-
Baysal, B.E.1
-
12
-
-
18344381765
-
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
-
Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, et al. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 2002; 39: 178-83.
-
(2002)
J Med Genet
, vol.39
, pp. 178-183
-
-
Baysal, B.E.1
Willett-Brozick, J.E.2
Lawrence, E.C.3
Drovdlic, C.M.4
Savul, S.A.5
McLeod, D.R.6
-
13
-
-
0024420201
-
Myoclonus epilepsy and ragged-red fibres (MERRF). A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
-
Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989; 112: 1231-60.
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, S.F.1
Carpenter, S.2
Evans, A.3
Karpati, G.4
Shoubridge, E.A.5
Andermann, F.6
-
14
-
-
0027314930
-
Progressive myoclonus epilepsies: Clinical and genetic aspects
-
Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993; 34 Suppl 3: S19-30.
-
(1993)
Epilepsia
, vol.34
, Issue.3 SUPPL.
-
-
Berkovic, S.F.1
Cochius, J.2
Andermann, E.3
Andermann, F.4
-
15
-
-
0029963145
-
A novel X-linked gene, G4.5 is responsible for Barth syndrome
-
Bione S, D'Adams P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat Genet 1996; 12: 385-9.
-
(1996)
Nat Genet
, vol.12
, pp. 385-389
-
-
Bione, S.1
D'Adams, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
16
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995; 11: 144-9.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Viegas-Pequignot, E.6
-
17
-
-
0025673969
-
Ubidecarenone in the treatment of mitochondrial myopathies: A multicenter double-blind trial
-
Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, et al. Ubidecarenone in the treatment of mitochondrial myopathies: a multicenter double-blind trial. J Neurol Sci 1990; 100: 70-8.
-
(1990)
J Neurol Sci
, vol.100
, pp. 70-78
-
-
Bresolin, N.1
Doriguzzi, C.2
Ponzetto, C.3
Angelini, C.4
Moroni, I.5
Castelli, E.6
-
18
-
-
0036275652
-
The distribution of mitochondrial activity in relation to optic nerve stricture
-
Bristow EA, Griffiths PG, Andrews RM, Johnson MA, Turnbull DM. The distribution of mitochondrial activity in relation to optic nerve stricture. Arch Ophthalmol 2002; 120: 791-6.
-
(2002)
Arch Ophthalmol
, vol.120
, pp. 791-796
-
-
Bristow, E.A.1
Griffiths, P.G.2
Andrews, R.M.3
Johnson, M.A.4
Turnbull, D.M.5
-
19
-
-
0036487995
-
The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup
-
Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet 2002; 110: 130-8.
-
(2002)
J. Hum Genet
, vol.110
, pp. 130-138
-
-
Brown, M.D.1
Starikovskaya, E.2
Derbeneva, O.3
Hosseini, S.4
Allen, J.C.5
Mikhailovskaya, I.E.6
-
20
-
-
0036892131
-
Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis
-
Buono LM, Foroozan R, Sergott RC, Savino PJ. Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis. Curr Opin Ophthalmol 2002; 13: 362-70.
-
(2002)
Curr Opin Ophthalmol
, vol.13
, pp. 362-370
-
-
Buono, L.M.1
Foroozan, R.2
Sergott, R.C.3
Savino, P.J.4
-
21
-
-
0033911449
-
Candidate locus for a nuclear modifier gene for maternally inherited deafness
-
Bykhovskaya Y, Estivill X, Taylor K, Hang T, Hamon M, Casano RA, et al. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am J Hum Genet 2000; 66: 1905-10.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1905-1910
-
-
Bykhovskaya, Y.1
Estivill, X.2
Taylor, K.3
Hang, T.4
Hamon, M.5
Casano, R.A.6
-
22
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-7.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
-
23
-
-
0036182712
-
Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies
-
Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002a; 40: 573-84.
-
(2002)
Neurochem Int
, vol.40
, pp. 573-584
-
-
Carelli, V.1
Ross-Cisneros, F.N.2
Sadun, A.A.3
-
24
-
-
0036126826
-
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
-
Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, et al. Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 2002b; 59: 264-70.
-
(2002)
Arch Neurol
, vol.59
, pp. 264-270
-
-
Carelli, V.1
Baracca, A.2
Barogi, S.3
Pallotti, F.4
Valentino, M.L.5
Montagna, P.6
-
25
-
-
0038160473
-
Analysis of the subunit composition of complex I from bovine heart mitochondria
-
Carroll J, Fearnley IM, Shannon RJ, Hirst J, Walker JE. Analysis of the subunit composition of complex I from bovine heart mitochondria. Mol Cell Proteomics 2003; 2: 117-26.
-
(2003)
Mol Cell Proteomics
, vol.2
, pp. 117-126
-
-
Carroll, J.1
Fearnley, I.M.2
Shannon, R.J.3
Hirst, J.4
Walker, J.E.5
-
26
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S. A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 1995; 213: 588-93.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.M.2
D'Amati, G.3
Bernucci, P.4
DeBiase, L.5
DiMauro, S.6
-
27
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-83.
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernandez, P.6
-
28
-
-
0029981001
-
Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy
-
Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet 1996; 59: 103-8.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 103-108
-
-
Chalmers, R.M.1
Davis, M.B.2
Sweeney, M.G.3
Wood, N.W.4
Harding, A.E.5
-
29
-
-
0029059278
-
Rearranged mitochondrial genomes are present in human oocytes
-
Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon EA. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995; 57: 239-47.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 239-247
-
-
Chen, X.1
Prosser, R.2
Simonetti, S.3
Sadlock, J.4
Jagiello, G.5
Schon, E.A.6
-
30
-
-
0032788739
-
Mitochondrial DNA and disease
-
Chinnery PF, Turnbull DM. Mitochondrial DNA and disease. Lancet 1999; 354 Suppl I: SI17-21.
-
(1999)
Lancet
, vol.354
, Issue.1 SUPPL.
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
31
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001; 106: 94-101.
-
(2001)
Am J Med Genet
, vol.106
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
32
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000; 48: 188-93.
-
(2000)
Ann Neurol
, vol.48
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
Singh-Kler, R.4
Hayes, C.5
Brown, D.T.6
-
33
-
-
0035182136
-
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
-
Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001; 124: 209-18.
-
(2001)
Brain
, vol.124
, pp. 209-218
-
-
Chinnery, P.F.1
Brown, D.T.2
Andrews, R.M.3
Singh-Kler, R.4
Riordan-Eva, P.5
Lindley, J.6
-
34
-
-
0037337347
-
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex 1 deficiency
-
Chol M, Lebon S, Benit P, Chretien D, de Lonlay P, Goldenberg A, et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex 1 deficiency. J Med Genet 2003; 40: 188-91.
-
(2003)
J Med Genet
, vol.40
, pp. 188-191
-
-
Chol, M.1
Lebon, S.2
Benit, P.3
Chretien, D.4
De Lonlay, P.5
Goldenberg, A.6
-
35
-
-
0025885770
-
Replication and transcription of vertebrate mitochondrial DNA
-
Clayton DA. Replication and transcription of vertebrate mitochondrial DNA. Annu Rev Cell Biol 1991; 7: 453-78.
-
(1991)
Annu Rev Cell Biol
, vol.7
, pp. 453-478
-
-
Clayton, D.A.1
-
36
-
-
0035112764
-
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
-
Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V, et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 2001; 49: 106-10.
-
(2001)
Ann Neurol
, vol.49
, pp. 106-110
-
-
Corona, P.1
Antozzi, C.2
Carrara, F.3
D'Incerti, L.4
Lamantea, E.5
Tiranti, V.6
-
37
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001; 29: 57-60.
-
(2001)
Nat Genet
, vol.29
, pp. 57-60
-
-
De Lonlay, P.1
Valnot, I.2
Barrientos, A.3
Gorbatyuk, M.4
Tzagoloff, A.5
Taanman, J.W.6
-
38
-
-
12244291215
-
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes
-
de Lonlay P, Mugnier C, Sanlaville D, Chantrel-Groussard K, Benit P, Lebon S, et al. Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. Hum Mol Genet 2002; 11: 3273-81.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3273-3281
-
-
De Lonlay, P.1
Mugnier, C.2
Sanlaville, D.3
Chantrel-Groussard, K.4
Benit, P.5
Lebon, S.6
-
39
-
-
1242269834
-
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
-
De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 2004; 41: 120-4.
-
(2004)
J Med Genet
, vol.41
, pp. 120-124
-
-
De Meirleir, L.1
Seneca, S.2
Lissens, W.3
De Clercq, I.4
Eyskens, F.5
Gerlo, E.6
-
40
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
-
de Vries DD, van Engelen BG, Gabreels FJ, Ruitenbeek W, van Oost BA. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993; 34: 410-12.
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
De Vries, D.D.1
Van Engelen, B.G.2
Gabreels, F.J.3
Ruitenbeek, W.4
Van Oost, B.A.5
-
41
-
-
0036369531
-
OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease
-
Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002; 75: 97-107.
-
(2002)
Mol Genet Metab
, vol.75
, pp. 97-107
-
-
Delettre, C.1
Lenaers, G.2
Pelloquin, L.3
Belenguer, P.4
Hamel, C.P.5
-
42
-
-
0034032751
-
Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegeneration
-
Di Donato S. Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration. J Inherit Metab Dis 2000; 23: 247-63.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 247-263
-
-
Di Donato, S.1
-
43
-
-
0029891215
-
Genetic heterogeneity in Leigh syndrome
-
DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996; 40: 5-7.
-
(1996)
Ann Neurol
, vol.40
, pp. 5-7
-
-
DiMauro, S.1
De Vivo, D.C.2
-
44
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon E Mitochondrial respiratory-chain diseases. N Engl J Med 2003; 348: 2656-68.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.2
-
45
-
-
0031965039
-
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
-
Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, et al. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis 1998; 21: 2-8.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 2-8
-
-
Dionisi-Vici, C.1
Seneca, S.2
Zeviani, M.3
Fariello, G.4
Rimoldi, M.5
Bertini, E.6
-
46
-
-
0029079541
-
Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes
-
Dunbar DR, Moonie PA, Jacobs HT, Holt IJ. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 1995; 92: 6562-6.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 6562-6566
-
-
Dunbar, D.R.1
Moonie, P.A.2
Jacobs, H.T.3
Holt, I.J.4
-
47
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
-
Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998; 62: 27-35.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barcelo, E.3
Badenas, C.4
Romero, E.5
Moral, L.6
-
48
-
-
0036648997
-
Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA
-
Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat Genet 2002; 31: 289-94.
-
(2002)
Nat Genet
, vol.31
, pp. 289-294
-
-
Falkenberg, M.1
Gaspari, M.2
Rantanen, A.3
Trifunovic, A.4
Larsson, N.G.5
Gustafsson, C.M.6
-
49
-
-
0141478672
-
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation
-
Finnila S, Majamaa K. Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. Eur J Hum Genet 2003; 11: 652-8.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 652-658
-
-
Finnila, S.1
Majamaa, K.2
-
50
-
-
0037423202
-
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
-
Ghelli A, Zanna C, Porcelli AM, Schapira AH, Martinuzzi A, Carelli V, et al. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J Biol Chem 2003; 278: 4145-50.
-
(2003)
J Biol Chem
, vol.278
, pp. 4145-4150
-
-
Ghelli, A.1
Zanna, C.2
Porcelli, A.M.3
Schapira, A.H.4
Martinuzzi, A.5
Carelli, V.6
-
52
-
-
0035213138
-
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway
-
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet 2001; 69: 1186-97.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1186-1197
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Mourad, J.J.4
Plouin, P.F.5
Corvol, P.6
-
53
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
54
-
-
0027288377
-
The mitochondrial DNA transfer RNA(Lys)A→ G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, et al. The mitochondrial DNA transfer RNA(Lys)A→ G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993; 116: 617-32.
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Lennox, G.G.4
Lawton, N.F.5
Kennedy, C.R.6
-
55
-
-
0036291870
-
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
-
Haraguchi M, Tsujimoto H, Fukushima M, Higuchi I, Kuribayashi H, Utsumi H, et al. Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice. Mol Cell Biol 2002; 22: 5212-21.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 5212-5221
-
-
Haraguchi, M.1
Tsujimoto, H.2
Fukushima, M.3
Higuchi, I.4
Kuribayashi, H.5
Utsumi, H.6
-
56
-
-
0037897337
-
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
-
Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet 2003; 113: 118-22.
-
(2003)
Hum Genet
, vol.113
, pp. 118-122
-
-
Haut, S.1
Brivet, M.2
Touati, G.3
Rustin, P.4
Lebon, S.5
Garcia-Cazorla, A.6
-
57
-
-
0025836655
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi J, Ohta S, Kikuchi A, Takemitsu M, Goto Y, Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991; 88: 10614-18.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto, Y.5
Nonaka, I.6
-
58
-
-
0026795527
-
MELAS: An original case and clinical criteria for diagnosis
-
Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, De Vivo DC, et al. MELAS: an original case and clinical criteria for diagnosis. Neuromuscul Disord 1992; 2: 125-35.
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 125-135
-
-
Hirano, M.1
Ricci, E.2
Koenigsberger, M.R.3
Defendini, R.4
Pavlakis, S.G.5
De Vivo, D.C.6
-
59
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721-7.
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
Lombes, A.4
Minetti, C.5
Bonilla, E.6
-
60
-
-
0035782695
-
Defects of intergenomic communication: Autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
-
Hirano M, Marti R, Ferreiro-Barros C, Vila MR, Tadesse S, Nishigaki Y, et al. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. Semin Cell Dev Biol 2001; 12: 417-27.
-
(2001)
Semin Cell Dev Biol
, vol.12
, pp. 417-427
-
-
Hirano, M.1
Marti, R.2
Ferreiro-Barros, C.3
Vila, M.R.4
Tadesse, S.5
Nishigaki, Y.6
-
61
-
-
0030813676
-
Population genetics and disease susceptibility: Characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease
-
Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, et al. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 1997; 6: 1835-46.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1835-1846
-
-
Hofmann, S.1
Jaksch, M.2
Bezold, R.3
Mertens, S.4
Aholt, S.5
Paprotta, A.6
-
63
-
-
0034598918
-
Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA
-
Holt IJ, Lorimer HE, Jacobs HT. Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell 2000; 100: 515-24.
-
(2000)
Cell
, vol.100
, pp. 515-524
-
-
Holt, I.J.1
Lorimer, H.E.2
Jacobs, H.T.3
-
64
-
-
0032231349
-
Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy
-
Howell N, Mackey DA. Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1998; 63: 1220-4.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1220-1224
-
-
Howell, N.1
Mackey, D.A.2
-
65
-
-
0025944560
-
Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees
-
Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991; 49: 939-50.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 939-950
-
-
Howell, N.1
Bindoff, L.A.2
McCullough, D.A.3
Kubacka, I.4
Poulton, J.5
Mackey, D.6
-
66
-
-
0025980075
-
Genetic aspects of antibiotic induced deafness: Mitochondrial inheritance
-
Hu DN, Qui WQ, Wu BT, Fang LZ, Zhou F, Gu YP, et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet 1991; 28: 79-83.
-
(1991)
J Med Genet
, vol.28
, pp. 79-83
-
-
Hu, D.N.1
Qui, W.Q.2
Wu, B.T.3
Fang, L.Z.4
Zhou, F.5
Gu, Y.P.6
-
68
-
-
0030601096
-
Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to ρ HeLa cells
-
Inoue K, Takai D, Soejima A, Isobe K, Yamasoba T, Oka Y, et al. Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to ρ HeLa cells. Biochem Biophys Res Commun 1996; 223: 496-501.
-
(1996)
Biochem Biophys Res Commun
, vol.223
, pp. 496-501
-
-
Inoue, K.1
Takai, D.2
Soejima, A.3
Isobe, K.4
Yamasoba, T.5
Oka, Y.6
-
69
-
-
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. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 2000; 26: 176-81.
-
(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
-
70
-
-
0037023786
-
Bupivacaine myotoxicity is mediated by mitochondria
-
Irwin W, Fontaine E, Agnolucci L, Penzo D, Betto R, Bortolotto S, et al. Bupivacaine myotoxicity is mediated by mitochondria. J Biol Chem. 2002; 277: 12221-7.
-
(2002)
J Biol Chem
, vol.277
, pp. 12221-12227
-
-
Irwin, W.1
Fontaine, E.2
Agnolucci, L.3
Penzo, D.4
Betto, R.5
Bortolotto, S.6
-
71
-
-
0026519547
-
-
Jaber L, Shohat M, Bu X, Fischel-Ghodsian N, Yang HY, Wang SJ, et al. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet 1992; 29: 86-90.
-
(1992)
Sensorineural Deafness Inherited As a Tissue Specific Mitochondrial Disorder. J Med Genet
, vol.29
, pp. 86-90
-
-
Jaber, L.1
Shohat, M.2
Bu, X.3
Fischel-Ghodsian, N.4
Yang, H.Y.5
Wang, S.J.6
-
72
-
-
15644370475
-
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene
-
Jaksch M, Klopstock T, Kurlemann G, Dorner M, Hofmann S, Kleinle S, et al. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol 1998; 44: 635-40.
-
(1998)
Ann Neurol
, vol.44
, pp. 635-640
-
-
Jaksch, M.1
Klopstock, T.2
Kurlemann, G.3
Dorner, M.4
Hofmann, S.5
Kleinle, S.6
-
73
-
-
0035894664
-
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
-
Jaksch M, Paret C, Stucka R, Horn N, Muller-Hocker J, Horvath R, et al. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet 2001; 10: 3025-35.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 3025-3035
-
-
Jaksch, M.1
Paret, C.2
Stucka, R.3
Horn, N.4
Muller-Hocker, J.5
Horvath, R.6
-
74
-
-
0029816795
-
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
-
Jenuth JP, Peterson AC, Fu K, Shoubridge EA. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 1996; 14: 146-51.
-
(1996)
Nat Genet
, vol.14
, pp. 146-151
-
-
Jenuth, J.P.1
Peterson, A.C.2
Fu, K.3
Shoubridge, E.A.4
-
75
-
-
0030951244
-
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
-
Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 1997; 16: 93-5.
-
(1997)
Nat Genet
, vol.16
, pp. 93-95
-
-
Jenuth, J.P.1
Peterson, A.C.2
Shoubridge, E.A.3
-
76
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-5.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
-
77
-
-
0036229268
-
Mitochondrial DNA C4171A/ND1 is a novel primary causitive mutation of Leber's hereditary optic neuropathy with a good prognosis
-
Kim JY, Hwang J-M, Park SS. Mitochondrial DNA C4171A/ND1 is a novel primary causitive mutation of Leber's hereditary optic neuropathy with a good prognosis. Ann Neurol 2002; 51: 630-4.
-
(2002)
Ann Neurol
, vol.51
, pp. 630-634
-
-
Kim, J.Y.1
Hwang, J.-M.2
Park, S.S.3
-
78
-
-
0033514928
-
Human deafness dystonia syndrome is a mitochondrial disease
-
Koehler CM; Leuenberge D, Merchant S, Renold A, Junne T, Schatz, G. Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci USA 1999; 96: 2141-6.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2141-2146
-
-
Koehler, C.M.1
Leuenberge, D.2
Merchant, S.3
Renold, A.4
Junne, T.5
Schatz, G.6
-
79
-
-
0000899960
-
The neuropathology of hereditary optic atrophy (Leber's disease); the first complete anatomic study
-
Kwittken J, Barest HD. The neuropathology of hereditary optic atrophy (Leber's disease); the first complete anatomic study. Am J Pathol 1958; 34: 185-207.
-
(1958)
Am J Pathol
, vol.34
, pp. 185-207
-
-
Kwittken, J.1
Barest, H.D.2
-
80
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52: 211-19.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
Toscano, A.4
Bono, F.5
Servidei, S.6
-
81
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D Subacute necrotizing encephalomyelopathy in an infant. J Neurochem 1951; 14: 216-21.
-
(1951)
J Neurochem
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
82
-
-
0034700807
-
Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
-
Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000a; 355: 299-304.
-
(2000)
Lancet
, vol.355
, pp. 299-304
-
-
Leonard, J.V.1
Schapira, A.V.H.2
-
83
-
-
0034728096
-
Mitochondrial respiratory chain disorders II: Neurodegenerative disorders and nuclear gene defects
-
Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 2000b; 355: 389-94.
-
(2000)
Lancet
, vol.355
, pp. 389-394
-
-
Leonard, J.V.1
Schapira, A.V.H.2
-
84
-
-
0033117377
-
Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse
-
Levy SE, Waymire KG, Kim YL, MacGregor GR, Wallace DC. Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse. Transgenic Res 1999; 8: 137-45.
-
(1999)
Transgenic Res
, vol.8
, pp. 137-145
-
-
Levy, S.E.1
Waymire, K.G.2
Kim, Y.L.3
MacGregor, G.R.4
Wallace, D.C.5
-
85
-
-
0034724327
-
Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy
-
Li H, Wang J, Wilhelmsson H, Hansson A, Thoren P, Duffy J, et al. Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. Proc Natl Acad Sci USA 2000; 97: 3467-72.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 3467-3472
-
-
Li, H.1
Wang, J.2
Wilhelmsson, H.3
Hansson, A.4
Thoren, P.5
Duffy, J.6
-
86
-
-
2342593210
-
Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome
-
Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, et al. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet 2004; 41: 342-349.
-
(2004)
J Med Genet
, vol.41
, pp. 342-349
-
-
Limongelli, A.1
Schaefer, J.2
Jackson, S.3
Invernizzi, F.4
Kirino, Y.5
Suzuki, T.6
-
87
-
-
0024382876
-
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics
-
Lombes A, Mendell JR, Nakase H, Barohn RJ, Bonilla E, Zeviani M, et al. Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol 1989; 26: 20-33.
-
(1989)
Ann Neurol
, vol.26
, pp. 20-33
-
-
Lombes, A.1
Mendell, J.R.2
Nakase, H.3
Barohn, R.J.4
Bonilla, E.5
Zeviani, M.6
-
88
-
-
0028558576
-
The development of mitochondrial medicine
-
Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci USA 1994; 91: 8731-8.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8731-8738
-
-
Luft, R.1
-
89
-
-
0026746739
-
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
-
Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992; 51: 1218-28.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1218-1228
-
-
Mackey, D.1
Howell, N.2
-
90
-
-
0037159255
-
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
-
Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002; 59: 1197-202.
-
(2002)
Neurology
, vol.59
, pp. 1197-1202
-
-
Mancuso, M.1
Salviati, L.2
Sacconi, S.3
Otaegui, D.4
Camano, P.5
Marina, A.6
-
91
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001; 29: 337-41.
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
-
92
-
-
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. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002; 30: 394-9.
-
(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
-
94
-
-
0037849955
-
Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
-
Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di Donato S. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003; 60: 1676-98.
-
(2003)
Neurology
, vol.60
, pp. 1676-1698
-
-
Mariotti, C.1
Solari, A.2
Torta, D.3
Marano, L.4
Fiorentini, C.5
Di Donato, S.6
-
95
-
-
0036478952
-
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
-
McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet 2002; 30: 145-6.
-
(2002)
Nat Genet
, vol.30
, pp. 145-146
-
-
McFarland, R.1
Clark, K.M.2
Morris, A.A.3
Taylor, R.W.4
Macphail, S.5
Lightowlers, R.N.6
-
96
-
-
0032815110
-
Mouse models of mitochondrial disease, oxidative stress, and senescence
-
Melov S, Coskun PE, Wallace DC. Mouse models of mitochondrial disease, oxidative stress, and senescence. Mutat Res 1999; 434: 233-42.
-
(1999)
Mutat Res
, vol.434
, pp. 233-242
-
-
Melov, S.1
Coskun, P.E.2
Wallace, D.C.3
-
97
-
-
0024398752
-
Detection of 'deleted' mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome
-
Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E. Detection of 'deleted' mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA 1989; 86: 9509-13.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9509-9513
-
-
Mita, S.1
Schmidt, B.2
Schon, E.A.3
DiMauro, S.4
Bonilla, E.5
-
98
-
-
0026566806
-
Central nervous system changes in mitochondrial encephalomyopathy: A light and electron microscopic study
-
Berl
-
Mizukami K, Sasaki M, Suzuki T, Shiraishi H, Koizumi J, Ohkoshi N, et al. Central nervous system changes in mitochondrial encephalomyopathy: a light and electron microscopic study. Acta Neuropathol (Berl) 1992; 83: 449-52.
-
(1992)
Acta Neuropathol
, vol.83
, pp. 449-452
-
-
Mizukami, K.1
Sasaki, M.2
Suzuki, T.3
Shiraishi, H.4
Koizumi, J.5
Ohkoshi, N.6
-
99
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 2003; 100: 605-10.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
Bunkenborg, J.4
Reich, M.5
Hjerrild, M.6
-
100
-
-
0026015896
-
mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
Aprille, J.R.4
Andreetta, F.5
Bonilla, E.6
-
101
-
-
8944244529
-
Deficiency of respiratory chain complex I is a common cause of Leigh disease
-
Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 1996; 40: 25-30.
-
(1996)
Ann Neurol
, vol.40
, pp. 25-30
-
-
Morris, A.A.1
Leonard, J.V.2
Brown, G.K.3
Bidouki, S.K.4
Bindoff, L.A.5
Woodward, C.E.6
-
102
-
-
0035836740
-
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
-
Musumeci O, Naini A, Slonim AE, Skavin N, Hadjigeorgiou GL, Krawiecki N, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001; 56: 849-55.
-
(2001)
Neurology
, vol.56
, pp. 849-855
-
-
Musumeci, O.1
Naini, A.2
Slonim, A.E.3
Skavin, N.4
Hadjigeorgiou, G.L.5
Krawiecki, N.6
-
103
-
-
0035370614
-
Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast
-
Nijtmans LG, Artal Sanz M, Bucko M, Farhoud MH, Feenstra M, Hakkaart GA, et al. Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast. FEBS Lett 2001; 498: 46-51.
-
(2001)
FEBS Lett
, vol.498
, pp. 46-51
-
-
Nijtmans, L.G.1
Artal Sanz, M.2
Bucko, M.3
Farhoud, M.H.4
Feenstra, M.5
Hakkaart, G.A.6
-
104
-
-
0020602931
-
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members
-
Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Ophthalmol 1983; 101: 1059-68.
-
(1983)
Arch Ophthalmol
, vol.101
, pp. 1059-1068
-
-
Nikoskelainen, E.1
Hoyt, W.F.2
Nummelin, K.3
-
105
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999; 283: 689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
106
-
-
0034096975
-
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
-
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000; 47: 792-800.
-
(2000)
Ann Neurol
, vol.47
, pp. 792-800
-
-
Nishino, I.1
Spinazzola, A.2
Papadimitriou, A.3
Hammans, S.4
Steiner, I.5
Hahn, C.D.6
-
107
-
-
0141610413
-
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
-
Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989; 86: 2379-82.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2379-2382
-
-
Ogasahara, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
-
108
-
-
0029146967
-
Tissue distribution and disease manifestations of the tRNA(Lys) A→G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
-
Berl
-
Oldfors A, Holme E, Tulinius M, Larsson NG. Tissue distribution and disease manifestations of the tRNA(Lys) A→G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol (Berl) 1995; 90: 328-33.
-
(1995)
Acta Neuropathol
, vol.90
, pp. 328-333
-
-
Oldfors, A.1
Holme, E.2
Tulinius, M.3
Larsson, N.G.4
-
109
-
-
0037424239
-
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
-
Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003; 278: 7743-6.
-
(2003)
J Biol Chem
, vol.278
, pp. 7743-7746
-
-
Olichon, A.1
Baricault, L.2
Gas, N.3
Guillou, E.4
Valette, A.5
Belenguer, P.6
-
110
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
-
Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999; 23: 333-7.
-
(1999)
Nat Genet
, vol.23
, pp. 333-337
-
-
Papadopoulou, L.C.1
Sue, C.M.2
Davidson, M.M.3
Tanji, K.4
Nishino, I.5
Sadlock, J.E.6
-
111
-
-
0037013234
-
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
-
Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J Biol Chem 2002; 277: 15225-8.
-
(2002)
J Biol Chem
, vol.277
, pp. 15225-15228
-
-
Ponamarev, M.V.1
Longley, M.J.2
Nguyen, D.3
Kunkel, T.A.4
Copeland, W.C.5
-
112
-
-
0024499802
-
Duplications of mitochondrial DNA in mitochondrial myopathy
-
Poulton J, Deadman ME, Gardiner RM. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet 1989; 1: 236-40.
-
(1989)
Lancet
, vol.1
, pp. 236-240
-
-
Poulton, J.1
Deadman, M.E.2
Gardiner, R.M.3
-
113
-
-
0029894544
-
Crosstalk between nuclear and mitochondrial genomes
-
Poyton RO, McEwen JE. Crosstalk between nuclear and mitochondrial genomes. Annu Rev Biochem 1996; 65: 563-607.
-
(1996)
Annu Rev Biochem
, vol.65
, pp. 563-607
-
-
Poyton, R.O.1
McEwen, J.E.2
-
114
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-94.
-
(1993)
Nat Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qiu, W.Q.6
-
115
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 2001; 27: 181-6.
-
(2001)
Nat Genet
, vol.27
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
Criqui-Filipe, P.4
Tiziano, F.5
Melki, J.6
-
116
-
-
0036501592
-
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
-
Roesch K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 2002; 11: 477-86.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 477-486
-
-
Roesch, K.1
Curran, S.P.2
Tranebjaerg, L.3
Koehler, C.M.4
-
117
-
-
18544382852
-
Mutant deoxynucleotide carrier is associated with congenital microcephaly
-
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 2002; 32: 175-9.
-
(2002)
Nat Genet
, vol.32
, pp. 175-179
-
-
Rosenberg, M.J.1
Agarwala, R.2
Bouffard, G.3
Davis, J.4
Fiermonte, G.5
Hilliard, M.S.6
-
118
-
-
0025133424
-
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
-
Rotig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601-8.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
Cormier, V.2
Blanche, S.3
Bonnefont, J.P.4
Ledeist, F.5
Romero, N.6
-
119
-
-
0034730011
-
Quinone-responsive multiple respiratory chain dysfunction due to widespread coenzyme Q10 deficiency
-
Rotig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, et al. Quinone-responsive multiple respiratory chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000; 356: 391-5.
-
(2000)
Lancet
, vol.356
, pp. 391-395
-
-
Rotig, A.1
Appelkvist, E.L.2
Geromel, V.3
Chretien, D.4
Kadhom, N.5
Edery, P.6
-
120
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
-
Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999; 354: 477-9.
-
(1999)
Lancet
, vol.354
, pp. 477-479
-
-
Rustin, P.1
Von Kleist-Retzow, J.C.2
Chantrel-Groussard, K.3
Sidi, D.4
Munnich, A.5
-
121
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001; 29: 342-4.
-
(2001)
Nat Genet
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
122
-
-
0034520010
-
Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve
-
Sadun AA, Win PH, Ross-Cisneros FN, Walker S, Carelli V. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc 2000; 98: 223-32.
-
(2000)
Trans Am Ophthalmol Soc
, vol.98
, pp. 223-232
-
-
Sadun, A.A.1
Win, P.H.2
Ross-Cisneros, F.N.3
Walker, S.4
Carelli, V.5
-
123
-
-
0036714964
-
Mitochondrial DNA depletion and dGK gene mutations
-
Salviati L, Sacconi S, Mancuso M, Otaegui D, Camano P, Marina A, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002a; 52: 311-17.
-
(2002)
Ann Neurol
, vol.52
, pp. 311-317
-
-
Salviati, L.1
Sacconi, S.2
Mancuso, M.3
Otaegui, D.4
Camano, P.5
Marina, A.6
-
124
-
-
0037090630
-
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
-
Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S, Schon EA, et al. Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J 2002b; 363: 321-7.
-
(2002)
Biochem J
, vol.363
, pp. 321-327
-
-
Salviati, L.1
Hernandez-Rosa, E.2
Walker, W.F.3
Sacconi, S.4
DiMauro, S.5
Schon, E.A.6
-
125
-
-
0036096893
-
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
-
Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, et al. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch Neurol 2002c; 59: 862-5.
-
(2002)
Arch Neurol
, vol.59
, pp. 862-865
-
-
Salviati, L.1
Sacconi, S.2
Rasalan, M.M.3
Kronn, D.F.4
Braun, A.5
Canoll, P.6
-
127
-
-
0033525924
-
Oxidative phosphorylation at the fin de siecle
-
Saraste M. Oxidative phosphorylation at the fin de siecle. Science 1999; 283: 1488-93.
-
(1999)
Science
, vol.283
, pp. 1488-1493
-
-
Saraste, M.1
-
128
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
-
Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989; 244: 346-9.
-
(1989)
Science
, vol.244
, pp. 346-349
-
-
Schon, E.A.1
Rizzuto, R.2
Moraes, C.T.3
Nakase, H.4
Zeviani, M.5
DiMauro, S.6
-
129
-
-
0037158599
-
Paternal inheritance of mitochondrial DNA
-
Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002; 347: 576-80.
-
(2002)
N Engl J Med
, vol.347
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
130
-
-
0026002054
-
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies
-
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991; 41: 1053-9.
-
(1991)
Neurology
, vol.41
, pp. 1053-1059
-
-
Servidei, S.1
Zeviani, M.2
Manfredi, G.3
Ricci, E.4
Silvestri, G.5
Bertini, E.6
-
131
-
-
18544387713
-
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome
-
Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 2002; 71: 679-683.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 679-683
-
-
Shanske, S.1
Tang, Y.2
Hirano, M.3
Nishigaki, Y.4
Tanji, K.5
Bonilla, E.6
-
132
-
-
0024317560
-
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
-
Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci USA 1989; 86: 7952-56.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, M.T.2
Voljavec, A.S.3
Soueidan, S.A.4
Costigan, D.A.5
Wallace, D.C.6
-
134
-
-
0029091199
-
Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
-
Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, et al. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 1995; 38: 163-9.
-
(1995)
Ann Neurol
, vol.38
, pp. 163-169
-
-
Shoffner, J.M.1
Brown, M.D.2
Stugard, C.3
Jun, A.S.4
Pollock, S.5
Haas, R.H.6
-
135
-
-
0034951707
-
Cytochrome c oxidase deficiency
-
Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet 2001; 106: 46-52.
-
(2001)
Am J Med Genet
, vol.106
, pp. 46-52
-
-
Shoubridge, E.A.1
-
137
-
-
0035349906
-
The genetics and pathology of oxidative phosphorylation
-
Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2001; 2: 342-52.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 342-352
-
-
Smeitink, J.1
Van Den Heuvel, L.2
DiMauro, S.3
-
138
-
-
0015815660
-
Ocular fundus in acute Leber optic neuropathy
-
Smith JL, Hoyt WF, Susac JO. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 1973; 90: 349-54.
-
(1973)
Arch Ophthalmol
, vol.90
, pp. 349-354
-
-
Smith, J.L.1
Hoyt, W.F.2
Susac, J.O.3
-
139
-
-
0030975555
-
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
-
Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997; 48: 1238-43.
-
(1997)
Neurology
, vol.48
, pp. 1238-1243
-
-
Sobreira, C.1
Hirano, M.2
Shanske, S.3
Keller, R.K.4
Haller, R.G.5
Davidson, E.6
-
140
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28: 223-31.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
-
141
-
-
18544374728
-
Altered thymidine metabolism due to defects of thymidine phosphorylase
-
Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem. 2002; 277: 4128-33.
-
(2002)
J Biol Chem
, vol.277
, pp. 4128-4133
-
-
Spinazzola, A.1
Marti, R.2
Nishino, I.3
Andreu, A.L.4
Naini, A.5
Tadesse, S.6
-
142
-
-
0036699060
-
Systematic screen for human disease genes in yeast
-
Steinmetz LM, Scharfe C, Deutschbauer AM. Mokranjac D, Herman ZS, Jones T, et al. Systematic screen for human disease genes in yeast. Nat Genet 2002; 31: 400-4.
-
(2002)
Nat Genet
, vol.31
, pp. 400-404
-
-
Steinmetz, L.M.1
Scharfe, C.2
Deutschbauer, A.M.3
Mokranjac, D.4
Herman, Z.S.5
Jones, T.6
-
143
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992; 50: 852-8.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
Clarke, J.T.4
Wherret, J.5
Smith, C.6
-
144
-
-
0031038812
-
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
-
Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 1997; 15: 212-15.
-
(1997)
Nat Genet
, vol.15
, pp. 212-215
-
-
Taylor, R.W.1
Chinnery, P.F.2
Turnbull, D.M.3
Lightowlers, R.N.4
-
145
-
-
0038238874
-
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
-
Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 2003; 41: 1786-96.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 1786-1796
-
-
Taylor, R.W.1
Giordano, C.2
Davidson, M.M.3
D'Amati, G.4
Bain, H.5
Hayes, C.M.6
-
146
-
-
0034949930
-
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
-
Thorburn DR, Dahl HH. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001; 106: 102-14.
-
(2001)
Am J Med Genet
, vol.106
, pp. 102-114
-
-
Thorburn, D.R.1
Dahl, H.H.2
-
148
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998; 63: 1609-21.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
-
149
-
-
0032712588
-
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
-
Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet. 1999; 8: 2533-40.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2533-2540
-
-
Tiranti, V.1
Galimberti, C.2
Nijtmans, L.3
Bovolenta, S.4
Perini, M.P.5
Zeviani, M.6
-
150
-
-
10744232283
-
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
-
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, et al. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 2004; 74: 239-52.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 239-252
-
-
Tiranti, V.1
D'Adamo, P.2
Briem, E.3
Ferrari, G.4
Mineri, R.5
Lamantea, E.6
-
151
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997; 60: 1107-21.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
-
153
-
-
0032927387
-
Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
-
Tsao K, Aitken PA, Johns DR. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br J Ophthalmol 1999; 83: 577-81.
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 577-581
-
-
Tsao, K.1
Aitken, P.A.2
Johns, D.R.3
-
154
-
-
0032941953
-
MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: A clinical, genetic, and pathological study
-
Berl
-
Tsuchiya K, Miyazaki H, Akabane H, Yamamoto M, Kondo H, Mizusawa H, et al. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study. Acta Neuropathol (Berl) 1999; 97: 520-4.
-
(1999)
Acta Neuropathol
, vol.97
, pp. 520-524
-
-
Tsuchiya, K.1
Miyazaki, H.2
Akabane, H.3
Yamamoto, M.4
Kondo, H.5
Mizusawa, H.6
-
155
-
-
0030749664
-
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
-
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 1997; 63: 16-22.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 16-22
-
-
Uziel, G.1
Moroni, I.2
Lamantea, E.3
Fratta, G.M.4
Ciceri, E.5
Carrara, F.6
-
156
-
-
0036843327
-
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): A study in cultured skin fibroblasts
-
Valianpour F, Wanders RJ, Overmars H, Vreken P, Van Gennip AH, Baas F, et al. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr 2002; 141: 729-33.
-
(2002)
J Pediatr
, vol.141
, pp. 729-733
-
-
Valianpour, F.1
Wanders, R.J.2
Overmars, H.3
Vreken, P.4
Van Gennip, A.H.5
Baas, F.6
-
157
-
-
0033754154
-
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
-
Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000a; 67: 1104-9.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1104-1109
-
-
Valnot, I.1
Osmond, S.2
Gigarel, N.3
Mehaye, B.4
Amiel, J.5
Cormier-Daire, V.6
-
158
-
-
0034192365
-
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
-
Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, et al. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 2000b; 9: 1245-9.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1245-1249
-
-
Valnot, I.1
Von Kleist-Retzow, J.C.2
Barrientos, A.3
Gorbatyuk, M.4
Taanman, J.W.5
Mehaye, B.6
-
159
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28: 211-12.
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
160
-
-
0036895391
-
Coenzyme Q-responsive Leigh's encephalopathy in two sisters
-
Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 2002; 52: 750-4.
-
(2002)
Ann Neurol
, vol.52
, pp. 750-754
-
-
Van Maldergem, L.1
Trijbels, F.2
DiMauro, S.3
Sindelar, P.J.4
Musumeci, O.5
Janssen, A.6
-
161
-
-
19044365959
-
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002; 71: 863-76.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
Dasvarma, A.4
Hutton, J.L.5
Kumar, V.6
-
162
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283: 1482-7.
-
(1999)
Science
, vol.283
, pp. 1482-1487
-
-
Wallace, D.C.1
-
163
-
-
0024163051
-
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
-
Wallace DC, Zheng XX, Lott MT, Shoffner JM, Hodge JA, Kelley RI, et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 1988a; 55: 601-10.
-
(1988)
Cell
, vol.55
, pp. 601-610
-
-
Wallace, D.C.1
Zheng, X.X.2
Lott, M.T.3
Shoffner, J.M.4
Hodge, J.A.5
Kelley, R.I.6
-
164
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988b; 242: 1427-30.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
-
165
-
-
0032924872
-
Dilated cardiomyopathy and atrioventricular conduction blocks induced by
-
Wang J, Wilhelmsson H, Graff C, Li H, Oldfors A, Rustin P, et al. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet 1999; 21: 133-7.
-
(1999)
Nat Genet
, vol.21
, pp. 133-137
-
-
Wang, J.1
Wilhelmsson, H.2
Graff, C.3
Li, H.4
Oldfors, A.5
Rustin, P.6
-
166
-
-
0037084559
-
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells
-
Wong A, Cavelier L, Collins-Schramm HE, Seldin MF, McGrogan M, Savontaus ML, et al. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 2002; 11: 431-8.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 431-438
-
-
Wong, A.1
Cavelier, L.2
Collins-Schramm, H.E.3
Seldin, M.F.4
McGrogan, M.5
Savontaus, M.L.6
-
167
-
-
0037112343
-
Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication
-
Yang MY, Bowmaker M, Reyes A, Vergani L, Angeli P, Gringeri E, et al. Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 2002; 111: 495-505.
-
(2002)
Cell
, vol.111
, pp. 495-505
-
-
Yang, M.Y.1
Bowmaker, M.2
Reyes, A.3
Vergani, L.4
Angeli, P.5
Gringeri, E.6
-
168
-
-
0032760675
-
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
-
Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 1999; 8: 2541-9.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2541-2549
-
-
Yao, J.1
Shoubridge, E.A.2
-
170
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38: 1339-46.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
-
171
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, Di Donato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
Di Donato, S.6
-
174
-
-
0347003512
-
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
-
Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004; 74: 139-52.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 139-152
-
-
Zhao, H.1
Li, R.2
Wang, Q.3
Yan, Q.4
Deng, J.H.5
Han, D.6
-
175
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36: 449-51.
-
(2004)
Nat Genet
, vol.36
, pp. 449-451
-
-
Züchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
|