-
1
-
-
15944396616
-
Mitochondrial encephalomyopathies: An update
-
DiMauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromusc Disord 2005;15:276-286
-
(2005)
Neuromusc Disord
, vol.15
, pp. 276-286
-
-
Dimauro, S.1
Hirano, M.2
-
2
-
-
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;283:689-692 (Pubitemid 129506238)
-
(1999)
Science
, vol.283
, Issue.5402
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
3
-
-
33750694576
-
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
-
Hirano M, Nishino I, Nishigaki Y, et al. Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Intern Med 2006;45:1103.
-
(2006)
Intern Med
, vol.45
, pp. 1103
-
-
Hirano, M.1
Nishino, I.2
Nishigaki, Y.3
-
4
-
-
0033609069
-
Mitochondrial disease in mouse results in increased oxidative stress
-
DOI 10.1073/pnas.96.9.4820
-
Esposito LA, Melov S, Panov A, et al. Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci USA 1999;96:4820-4825 (Pubitemid 29214495)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.9
, pp. 4820-4825
-
-
Esposito, L.A.1
Melov, S.2
Panov, A.3
Cottrell, B.A.4
Wallace, D.C.5
-
5
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
DOI 10.1126/science.289.5480.782
-
Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782-785 (Pubitemid 30650199)
-
(2000)
Science
, vol.289
, Issue.5480
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
6
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
DOI 10.1038/90058
-
Spelbrink JN, Li FY, Tiranti V, 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;28:223-231 (Pubitemid 32626024)
-
(2001)
Nature Genetics
, vol.28
, Issue.3
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.-Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.-P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.-M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
7
-
-
0037105957
-
Clinical and molecular features of adPEO due to mutations in the Twinkle gene
-
DOI 10.1016/S0022-510X(02)00190-9, PII S0022510X02001909
-
Lewis S, Hutchison W, Thyagarajan D, et al.. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. J Neurol Sci 2002;201:39-44. (Pubitemid 34876903)
-
(2002)
Journal of the Neurological Sciences
, vol.201
, Issue.1-2
, pp. 39-44
-
-
Lewis, S.1
Hutchison, W.2
Thyagarajan, D.3
Dahl, H.-H.M.4
-
8
-
-
27544440060
-
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
-
DOI 10.1093/hmg/ddi328
-
Nikali K, Suomalainen A, Saharinen J, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14:2981-2990 (Pubitemid 41535463)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.20
, pp. 2981-2990
-
-
Nikali, K.1
Suomalainen, A.2
Saharinen, J.3
Kuokkanen, M.4
Spelbrink, J.N.5
Lonnqvist, T.6
Peltonen, L.7
-
9
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
-
DOI 10.1093/brain/awl088
-
Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674-1684 (Pubitemid 43999402)
-
(2006)
Brain
, vol.129
, Issue.7
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
Futterer, N.4
Ahola, S.5
Lamantea, E.6
Prokisch, H.7
Lochmuller, H.8
McFarland, R.9
Ramesh, V.10
Klopstock, T.11
Freisinger, P.12
Salvi, F.13
Mayr, J.A.14
Santer, R.15
Tesarova, M.16
Zeman, J.17
Udd, B.18
Taylor, R.W.19
Turnbull, D.20
Hanna, M.21
Fialho, D.22
Suomalainen, A.23
Zeviani, M.24
Chinnery, P.F.25
more..
-
10
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
DOI 10.1038/90034
-
Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-212 (Pubitemid 32626018)
-
(2001)
Nature Genetics
, vol.28
, Issue.3
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.-J.4
Van Broeckhoven, C.5
-
11
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: Clinical and molecular genetic study
-
DOI 10.1016/S0140-6736(04)16983-3, PII S0140673604169833
-
Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004;364:875-882 (Pubitemid 39221065)
-
(2004)
Lancet
, vol.364
, Issue.9437
, pp. 875-882
-
-
Luoma, P.1
Melberg, A.2
Rinne, J.O.3
Kaukonen, J.A.4
Nupponen, N.N.5
Chalmers, R.M.6
Oldfors, P.A.7
Rautakorpi, I.8
Peltonen, P.L.9
Majamaa, P.K.10
Somer, H.11
Suomalainen, A.12
-
12
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
DOI 10.1016/S0960-8966(02)00216-X
-
Van Goethem G, Martin JJ, Dermaut B, et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromusc Disord 2003;13:133-142 (Pubitemid 36140008)
-
(2003)
Neuromuscular Disorders
, vol.13
, Issue.2
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
Lofgren, A.4
Wibail, A.5
Ververken, D.6
Tack, P.7
Dehaene, I.8
Van Zandijcke, M.9
Moonen, M.10
Ceuterick, C.11
De Jonghe, P.12
Van Broeckhoven, C.13
-
13
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux RK, Nguyen KV POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004;55:706-712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
14
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
DOI 10.1038/ng751
-
Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-344 (Pubitemid 33096463)
-
(2001)
Nature Genetics
, vol.29
, Issue.3
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
15
-
-
0038714096
-
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene
-
DOI 10.1001/archneur.60.7.1007
-
Mancuso M, Filosto M, Bonilla E, et al. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Arch Neurol 2003;60:1007-1009 (Pubitemid 36858363)
-
(2003)
Archives of Neurology
, vol.60
, Issue.7
, pp. 1007-1009
-
-
Mancuso, M.1
Filosto, M.2
Bonilla, E.3
Hirano, M.4
Shanske, S.5
Vu, T.H.6
Dimauro, S.7
-
16
-
-
33747192567
-
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene
-
DOI 10.1001/archneur.63.8.1122
-
Oskoui M, Davidzon G, Pascual J, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006;63:1122-1126 (Pubitemid 44232318)
-
(2006)
Archives of Neurology
, vol.63
, Issue.8
, pp. 1122-1126
-
-
Oskoui, M.1
Davidzon, G.2
Pascual, J.3
Erazo, R.4
Gurgel-Giannetti, J.5
Krishna, S.6
Bonilla, E.7
De Vivo, D.C.8
Shanske, S.9
Dimauro, S.10
-
17
-
-
0037159255
-
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
-
Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002;59:1197-1202 (Pubitemid 35192389)
-
(2002)
Neurology
, vol.59
, Issue.8
, pp. 1197-1202
-
-
Mancuso, M.1
Salviati, L.2
Sacconi, S.3
Otaegui, D.4
Camano, P.5
Marina, A.6
Bacman, S.7
Moraes, C.T.8
Carlo, J.R.9
Garcia, M.10
Garcia-Alvarez, M.11
Monzon, L.12
Naini, A.B.13
Hirano, M.14
Bonilla, E.15
Taratuto, A.L.16
Dimauro, S.17
Vu, T.H.18
-
18
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
DOI 10.1086/430843
-
Elpeleg O, Miller C, Hershkovitz E, et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-1086 (Pubitemid 40705442)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.6
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
Bitner-Glindzicz, M.4
Bondi-Rubinstein, G.5
Rahman, S.6
Pagnamenta, A.7
Eshhar, S.8
Saada, A.9
-
19
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
DOI 10.1038/ng746
-
Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-341 (Pubitemid 33096462)
-
(2001)
Nature Genetics
, vol.29
, Issue.3
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
Eriksson, S.11
Cohen, N.12
-
20
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-575
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
-
21
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
DOI 10.1093/hmg/ddh071
-
Ugalde C, Janssen RJ, van den Heuvel LP, et al. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum Mol Genet 2004;13:659-667 (Pubitemid 38379855)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.6
, pp. 659-667
-
-
Ugalde, C.1
Janssen, R.J.R.J.2
Van Den Heuvel, L.P.3
Smeitink, J.A.M.4
Nijtmans, L.G.J.5
-
22
-
-
8844244960
-
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
-
DOI 10.1172/JCI200420683
-
Kirby DM, Salemi R, Sugiana C, et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 2004;114:837-845 (Pubitemid 39578743)
-
(2004)
Journal of Clinical Investigation
, vol.114
, Issue.6
, pp. 837-845
-
-
Kirby, D.M.1
Salemi, R.2
Sugiana, C.3
Ohtake, A.4
Parry, L.5
Bell, K.M.6
Kirk, E.P.7
Boneh, A.8
Taylor, R.W.9
Dahl, H.-H.M.10
Ryan, M.T.11
Thorburn, D.R.12
-
23
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144-149
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
-
24
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
DOI 10.1086/321282
-
Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001;69:49-54. (Pubitemid 32614017)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.1
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
Dahia, P.L.M.4
Douglas, F.5
George, E.6
Skoldberg, F.7
Husebye, E.S.8
Eng, C.9
Maher, E.R.10
-
25
-
-
34447336126
-
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
-
DOI 10.1093/hmg/ddm072
-
Fernandez-Vizarra E, Bugiani M, Goffrini P, et al. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 2007;16:1241-1252 (Pubitemid 47062720)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.10
, pp. 1241-1252
-
-
Fernandez-Vizarra, E.1
Bugiani, M.2
Goffrini, P.3
Carrara, F.4
Farina, L.5
Procopio, E.6
Donati, A.7
Uziel, G.8
Ferrero, I.9
Zeviani, M.10
-
26
-
-
19044365959
-
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002;71:863-876 (Pubitemid 135750518)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.4
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
Dasvarma, A.4
Hutton, J.L.5
Kumar, V.6
Payne, G.S.7
Makarow, M.8
Van Coster, R.9
Taylor, R.W.10
Turnbull, D.M.11
Suomalainen, A.12
Peltonen, L.13
-
27
-
-
0022507036
-
Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment
-
Angelini C, Bresolin N, Pegolo G, et al. Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment. Neurology 1986;36:1048-1052 (Pubitemid 16038580)
-
(1986)
Neurology
, vol.36
, Issue.8
, pp. 1048-1052
-
-
Angelini, C.1
Bresolin, N.2
Pegolo, G.3
-
28
-
-
0035039888
-
Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency
-
DOI 10.1002/humu.1112
-
Pequignot MO, Dey R, Zeviani M, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 2001;17:374-381 (Pubitemid 32381671)
-
(2001)
Human Mutation
, vol.17
, Issue.5
, pp. 374-381
-
-
Pquignot, M.O.1
Dey, R.2
Zeviani, M.3
Tiranti, V.4
Godinot, C.5
Poyau, A.6
Sue, C.7
Mauro, S.D.8
Abitbol, M.9
Marsac, C.10
-
29
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
-
Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999;23:333-337
-
(1999)
Nat Genet
, vol.23
, pp. 333-337
-
-
Papadopoulou, L.C.1
Sue, C.M.2
Davidson, M.M.3
-
30
-
-
0035940540
-
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
-
Jaksch M, Horvath R, Horn N, et al. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001;57:1440-1446 (Pubitemid 32995726)
-
(2001)
Neurology
, vol.57
, Issue.8
, pp. 1440-1446
-
-
Jaksch, M.1
Horvath, R.2
Horn, N.3
Auer, D.P.4
Macmillan, C.5
Peters, J.6
Gerbitz, K.-D.7
Kraegeloh-Mann, I.8
Muntau, A.9
Karcagi, V.10
Kalmanchey, R.11
Lochmuller, H.12
Shoubridge, E.A.13
Freisinger, P.14
-
31
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
DOI 10.1086/345489
-
Antonicka H, Mattman A, Carlson CG, 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;72:101-114 (Pubitemid 36056846)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.1
, 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
Kennaway, N.G.7
Shoubridge, E.A.8
-
32
-
-
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, 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;10:3025-3035 (Pubitemid 34083489)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.26
, pp. 3025-3035
-
-
Jaksch, M.1
Paret, C.2
Stucka, R.3
Horn, N.4
Muller-Hocker, J.5
Horvath, R.6
Trepesch, N.7
Stecker, G.8
Freisinger, P.9
Thirion, C.10
Muller, J.11
Lunkwitz, R.12
Rodel, G.13
Shoubridge, E.A.14
Lochmuller, H.15
-
33
-
-
0035831217
-
Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O
-
Barros MH, Carlson CG, Glerum DM, et al. Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O. FEBS Lett 2001;492:133-138
-
(2001)
FEBS Lett
, vol.492
, pp. 133-138
-
-
Barros, M.H.1
Carlson, C.G.2
Glerum, D.M.3
-
34
-
-
1242269834
-
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
-
De Meirleir L, Seneca S, Lissens W, et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 2004;41:120-124 (Pubitemid 38221750)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.2
, pp. 120-124
-
-
De Meirleir, L.1
Seneca, S.2
Lissens, W.3
De Clercq, I.4
Eyskens, F.5
Gerlo, E.6
Smet, J.7
Van Coster, R.8
-
35
-
-
23844469463
-
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
-
DOI 10.1212/01.wnl.0000172859.55579.a7
-
Salviati L, Sacconi S, Murer L, et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology 2005;65:606-608 (Pubitemid 41170725)
-
(2005)
Neurology
, vol.65
, Issue.4
, pp. 606-608
-
-
Salviati, L.1
Sacconi, S.2
Murer, L.3
Zacchello, G.4
Franceschini, L.5
Laverda, A.M.6
Basso, G.7
Quinzii, C.8
Angelini, C.9
Hirano, M.10
Naini, A.B.11
Navas, P.12
Dimauro, S.13
Montini, G.14
-
36
-
-
31544480133
-
10 deficiency
-
DOI 10.1086/500092
-
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 2006;78:345-349 (Pubitemid 43157573)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
Trevisson, E.4
Navas, P.5
Dimauro, S.6
Hirano, M.7
-
37
-
-
33845232634
-
10 deficiency due to decaprenyl diphosphote synthase subunit 2 (PDSS2) mutations
-
DOI 10.1086/510023
-
Lopez LC, Schuelke M, Quinzii CM, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006;79:1125-1129 (Pubitemid 44853484)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.6
, pp. 1125-1129
-
-
Lopez, L.C.1
Schuelke, M.2
Quinzii, C.M.3
Kanki, T.4
Rodenburg, R.J.T.5
Naini, A.6
Dimauro, S.7
Hirano, M.8
-
38
-
-
14944387002
-
Iron trafficking in the mitochondrion: Novel pathways revealed by disease
-
DOI 10.1182/blood-2004-10-3856
-
Napier I, Ponka P, Richardson DR. Iron trafficking in the mitochondrion: novel pathways revealed by disease. Blood 2005;105:1867-1874 (Pubitemid 40731766)
-
(2005)
Blood
, vol.105
, Issue.5
, pp. 1867-1874
-
-
Napier, I.1
Ponka, P.2
Richardson, D.R.3
-
39
-
-
0001336902
-
The enzymic synthesis of delta-aminolevulinic acid
-
Kikuchi G, Shemin D, Bachmann BJ. The enzymic synthesis of delta-aminolevulinic acid. J Biol Chem 1958;233:1214-1219
-
(1958)
J Biol Chem
, vol.233
, pp. 1214-1219
-
-
Kikuchi, G.1
Shemin, D.2
Bachmann, B.J.3
-
40
-
-
0026603687
-
Enzymatic defect in "X-linked" sideroblastic anemia: Molecular evidence for erythroid delta-aminolevulinate synthase deficiency
-
Cotter PD, Baumann M, Bishop DF. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci USA 1992;89:4028-4032
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4028-4032
-
-
Cotter, P.D.1
Baumann, M.2
Bishop, D.F.3
-
41
-
-
0031028178
-
Tissue-specific regulation of iron metabolism and heme synthesis: Distinct control mechanisms in erythroid cells
-
Ponka P. Tissue-specific regulation of iron metabolism and heme synthesis: distinct control mechanisms in erythroid cells. Blood 1997;89:1-25. (Pubitemid 26428173)
-
(1997)
Blood
, vol.89
, Issue.1
, pp. 1-25
-
-
Ponka, P.1
-
42
-
-
0031616020
-
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
-
Shimada Y, Okuno S, Kawai A, et al. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet 1998;43:115-122 (Pubitemid 128508966)
-
(1998)
Journal of Human Genetics
, vol.43
, Issue.2
, pp. 115-122
-
-
Shimada, Y.1
Okuno, S.2
Kawai, A.3
Shinomiya, H.4
Saito, A.5
Suzuki, M.6
Omori, Y.7
Nishino, N.8
Kanemoto, N.9
Fujiwara, T.10
Horie, M.11
Takahashi, E.-I.12
-
43
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427 (Pubitemid 26089479)
-
(1996)
Science
, vol.271
, Issue.5254
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.-L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
44
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
DOI 10.1093/hmg/6.11.1771
-
Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780 (Pubitemid 27460350)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
Trottier, Y.7
Kish, S.J.8
Faucheux, B.9
Trouillas, P.10
Authier, F.J.11
Durr, A.12
Mandel, J.-L.13
Vescovi, A.14
Pandolfo, M.15
Koenig, M.16
-
45
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
DOI 10.1038/84818
-
Puccio H, Simon D, Cossee M, 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;27:181-186 (Pubitemid 32157445)
-
(2001)
Nature Genetics
, vol.27
, Issue.2
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
Criqui-Filipe, P.4
Tiziano, F.5
Melki, J.6
Hindelang, C.7
Matyas, R.8
Rustin, P.9
Koenig, M.10
-
46
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
-
DOI 10.1016/S0140-6736(99)01341-0
-
Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999;354:477-479 (Pubitemid 29368927)
-
(1999)
Lancet
, vol.354
, Issue.9177
, pp. 477-479
-
-
Rustin, P.1
Von Kleist-Retzow, J.-C.2
Chantrel-Groussard, K.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
-
47
-
-
34247158550
-
Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases
-
DOI 10.1016/j.neuroscience.2006.10.056, PII S0306452206014333, Genome Dynamics and DNA Repair in the CNS
-
Trushina E, McMurray CT. Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases. Neuroscience 2007;145:1233-1248 (Pubitemid 46602738)
-
(2007)
Neuroscience
, vol.145
, Issue.4
, pp. 1233-1248
-
-
Trushina, E.1
McMurray, C.T.2
-
48
-
-
33748757300
-
Mitochondrial dysfunction, oxidative stress and neurodegeneration
-
Mancuso M, Coppede F, Migliore L, et al. Mitochondrial dysfunction, oxidative stress and neurodegeneration. J Alzheimer Dis 2006;10:59-73. (Pubitemid 44401367)
-
(2006)
Journal of Alzheimer's Disease
, vol.10
, Issue.1
, pp. 59-73
-
-
Mancuso, M.1
Coppede, F.2
Migliore, L.3
Siciliano, G.4
Murri, L.5
-
49
-
-
38349108752
-
Mitochondrial dysfunction as a cause of ageing
-
Trifunovic A, Larsson NG. Mitochondrial dysfunction as a cause of ageing. J Intern Med 2008;263:167-178
-
(2008)
J Intern Med
, vol.263
, pp. 167-178
-
-
Trifunovic, A.1
Larsson, N.G.2
-
50
-
-
0028047262
-
Dynamics of mitochondria in living cells: Shape changes, dislocations, fusion, and fission of mitochondria
-
Bereiter-Hahn J, Voth M. Dynamics of mitochondria in living cells: shape changes, dislocations, fusion, and fission of mitochondria. Microsc Res Tech 1994;27:198-219. (Pubitemid 24062014)
-
(1994)
Microscopy Research and Technique
, vol.27
, Issue.3
, pp. 198-219
-
-
Bereiter-Hahn, J.1
Voth, M.2
-
51
-
-
4644258352
-
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
-
Fichera M, Lo Giudice M, Falco M, et al. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 2004;63:1108-1110 (Pubitemid 39287929)
-
(2004)
Neurology
, vol.63
, Issue.6
, pp. 1108-1110
-
-
Fichera, M.1
Lo Giudice, M.2
Falco, M.3
Sturnio, M.4
Amata, S.5
Calabrese, O.6
Bigoni, S.7
Calzolari, E.8
Neri, M.9
-
52
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
DOI 10.1038/79936
-
Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000;26:207-220 (Pubitemid 30764505)
-
(2000)
Nature Genetics
, vol.26
, Issue.2
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.-M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
Pelloquin, L.7
Grosgeorge, J.8
Turc-Carel, C.9
Perret, E.10
Astarie-Dequeker, C.11
Lasquellec, L.12
Arnaud, B.13
Ducommun, B.14
Kaplan, J.15
Hamel, C.P.16
-
53
-
-
54449084658
-
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
-
Spinazzi M, Cazzola S, Bortolozzi M, et al. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet 2008;17:3291-3302
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3291-3302
-
-
Spinazzi, M.1
Cazzola, S.2
Bortolozzi, M.3
-
54
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
DOI 10.1038/ng1341
-
Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-451 (Pubitemid 38620027)
-
(2004)
Nature Genetics
, vol.36
, Issue.5
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
Zappia, M.7
Nelis, E.8
Patitucci, A.9
Senderek, J.10
Parman, Y.11
Evgrafov, O.12
De Jonghe, P.13
Takahashi, Y.14
Tsuji, S.15
Pericak-Vance, M.A.16
Quattrone, A.17
Battologlu, E.18
Polyakov, A.V.19
Timmerman, V.20
Schroder, J.M.21
Vance, J.M.22
more..
-
55
-
-
34247525092
-
A lethal defect of mitochondrial and peroxisomal fission
-
DOI 10.1056/NEJMoa064436
-
Waterham HR, Koster J, van Roermund CW, et al. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 2007;356:1736-1741 (Pubitemid 46658705)
-
(2007)
New England Journal of Medicine
, vol.356
, Issue.17
, pp. 1736-1741
-
-
Waterham, H.R.1
Koster, J.2
Van Roermund, C.W.T.3
Mooyer, P.A.W.4
Wanders, R.J.A.5
Leonard, J.V.6
-
56
-
-
9644274004
-
The epidemiology of mitochondrial disorders - Past, present and future
-
DOI 10.1016/j.bbabio.2004.09.005, PII S0005272804002713, Euromit 6
-
Schaefer AM, Taylor RW, Turnbull DM, et al. The epidemiology of mitochondrial disorders: past, present and future. Biochim Biophys Acta 2004;1659:115-120 (Pubitemid 39575497)
-
(2004)
Biochimica et Biophysica Acta - Bioenergetics
, vol.1659
, Issue.2-3
, pp. 115-120
-
-
Schaefer, A.M.1
Taylor, R.W.2
Turnbull, D.M.3
Chinnery, P.F.4
-
57
-
-
0000696696
-
Birth prevalence of mitochondrial respiratory chain defects in children
-
Skladal D, Bernier FP, Halliday JL, et al. Birth prevalence of mitochondrial respiratory chain defects in children. J Inherit Metab Dis 2000;23;138.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 138
-
-
Skladal, D.1
Bernier, F.P.2
Halliday, J.L.3
|