-
1
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
C. Alexander M. Votruba U.E.A. Pesch D.L. Thiselton S. Mayer A. Moore M. Rodriguez U. Kellner B. Leo-Kottler G. Auburger S.S. Bhattacharia OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 Nat. Genet. 26 2000 211-215
-
(2000)
Nat. Genet.
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.A.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
Rodriguez, M.7
Kellner, U.8
Leo-Kottler, B.9
Auburger, G.10
Bhattacharia, S.S.11
-
2
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
T. Bourgeron P. Rustin D. Chretien M. Birch-Machin M. Bourgeois E. Viegas-Pequignot A. Munnich A. Rotig Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nat. Genet. 11 1995 144-149
-
(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
Munnich, A.7
Rotig, A.8
-
3
-
-
0020557211
-
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
-
R.N. Boustany J.R. Aprille J. Halperin H. Levy G.R. DeLong Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin Ann. Neurol. 14 1983 462-470
-
(1983)
Ann. Neurol.
, vol.14
, pp. 462-470
-
-
Boustany, R.N.1
Aprille, J.R.2
Halperin, J.3
Levy, H.4
DeLong, G.R.5
-
4
-
-
0020578684
-
Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis
-
V.M. Darley Usmar N.G. Kennaway N.R. Buist R.A. Capaldi Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis Proc. Natl Acad. Sci. USA 80 1983 5103-5106
-
(1983)
Proc. Natl. Acad. Sci. USA
, vol.80
, pp. 5103-5106
-
-
Darley Usmar, V.M.1
Kennaway, N.G.2
Buist, N.R.3
Capaldi, R.A.4
-
5
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
C. Delettre G. Lenaers J.-M. Griffoin N. Gigarel C. Lorenzo P. Belenguer L. Pelloquin J. Grosgeorge C. Turc-Carel E. Perret C. Astarie-Dequeker L. Lasquellec B. Arnaud B. Ducommun J. Kaplan C. Hamel Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy Nat. Genet. 26 2000 207-210
-
(2000)
Nat. Genet.
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.-M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
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.16
-
6
-
-
1242269834
-
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
-
L. De Meirleir S. Seneca W. Lissens I. De Clercq F. Eyskens E. Gerlo J. Smet R. Van Coster Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 J. Med. Genet. 41 2004 120-124
-
(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
Smet, J.7
Van Coster, R.8
-
7
-
-
0015839160
-
Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria
-
S. DiMauro D.L. Schotland E. Bonilla C.P. Lee P.L. Gambetti L.P. Rowland Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria Arch. Neurol. 29 1973 170-179
-
(1973)
Arch. Neurol.
, vol.29
, pp. 170-179
-
-
DiMauro, S.1
Schotland, D.L.2
Bonilla, E.3
Lee, C.P.4
Gambetti, P.L.5
Rowland, L.P.6
-
11
-
-
0021449807
-
31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
-
S. Eleff N.G. Kennaway N.R. Buist V.M. Darley-Usmar R.A. Capaldi W.J. Bank B. Chance 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle Proc. Natl Acad. Sci. USA 81 1984 3529-3533
-
(1984)
Proc. Natl. Acad. Sci. USA
, vol.81
, pp. 3529-3533
-
-
Eleff, S.1
Kennaway, N.G.2
Buist, N.R.3
Darley-Usmar, V.M.4
Capaldi, R.A.5
Bank, W.J.6
Chance, B.7
-
12
-
-
0001698695
-
Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections
-
W.K. Engel G. Cunnigham Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections Neurology 13 1963 919-923
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunnigham, G.2
-
13
-
-
0029075554
-
Mitochondrial protein transport-a system in search of mutations
-
W.A. Fenton Mitochondrial protein transport-a system in search of mutations Am. J. Hum. Genet. 57 1995 235-238
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 235-238
-
-
Fenton, W.A.1
-
16
-
-
0032231702
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter
-
M. Hirano J. Garcia-de-Yebenes A.C. Jones I. Nishino S. DiMauro J.R. Carlo A.N. Bender A.F. Hahn L.M. Salberg D.E. Weeks T.G. Nygaard Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter Am. J. Hum. Genet. 63 1998 526-533
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 526-533
-
-
Hirano, M.1
Garcia-de-Yebenes, J.2
Jones, A.C.3
Nishino, I.4
DiMauro, S.5
Carlo, J.R.6
Bender, A.N.7
Hahn, A.F.8
Salberg, L.M.9
Weeks, D.E.10
Nygaard, T.G.11
-
17
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
I.J. Holt A.E. Harding J.A. Morgan Hughes Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature 331 1988 717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan Hughes, J.A.3
-
18
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
J. Kaukonen J.K. Juselius V. Tiranti A. Kyttala M. Zeviani G.P. Comi S. Keranen L. Peltonen A. Suomalainen Role of adenine nucleotide translocator 1 in mtDNA maintenance Science 289 2000 782-785
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
19
-
-
0023820495
-
Defects in the cytochrome bc1 complex in mitochondrial diseases
-
N.G. Kennaway Defects in the cytochrome bc1 complex in mitochondrial diseases J. Bioenerg. Biomembr. 20 1988 325-352
-
(1988)
J. Bioenerg. Biomembr.
, vol.20
, pp. 325-352
-
-
Kennaway, N.G.1
-
20
-
-
0021219976
-
Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain
-
N.G. Kennaway N.R. Buist V.M. Darley Usmar A. Papadimitriou S. DiMauro R.I. Kelley R.A. Capaldi N.K. Blank A. D'Agostino Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain Pediatr. Res. 18 1984 991-999
-
(1984)
Pediatr. Res.
, vol.18
, pp. 991-999
-
-
Kennaway, N.G.1
Buist, N.R.2
Darley Usmar, V.M.3
Papadimitriou, A.4
DiMauro, S.5
Kelley, R.I.6
Capaldi, R.A.7
Blank, N.K.8
D'Agostino, A.9
-
21
-
-
78651126508
-
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
-
R. Luft D. Ikkos G. Palmieri L. Ernster B. Afzelius A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study J. Clin. Invest. 41 1962 1776-1804
-
(1962)
J. Clin. Invest.
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
22
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
H. Mandel R. Szargel V. Labay O. Elpeleg A. Saada A. Shalata Y. Anbinder D. Berkowitz C. Hartman M. Barak S. Eriksson N. Cohen The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA Nat. Genet. 29 2001 337-341
-
(2001)
Nat. Genet.
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
Eriksson, S.11
Cohen, N.12
-
23
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
C.T. Moraes S. Shanske H.J. Tritschler J.R. Aprille F. Andreetta E. Bonilla E.A. Schon S. DiMauro MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases Am. J. Hum. Genet. 48 1991 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
Schon, E.A.7
DiMauro, S.8
-
25
-
-
0019909046
-
Mitochondrial encephalomyopathies: Biochemical studies in two cases revealing defects in the respiratory chain
-
J.A. Morgan Hughes D.J. Hayes J.B. Clark D.N. Landon M. Swash R.J. Stark P. Rudge Mitochondrial encephalomyopathies: Biochemical studies in two cases revealing defects in the respiratory chain Brain 105 1982 553-582
-
(1982)
Brain
, vol.105
, pp. 553-582
-
-
Morgan Hughes, J.A.1
Hayes, D.J.2
Clark, J.B.3
Landon, D.N.4
Swash, M.5
Stark, R.J.6
Rudge, P.7
-
26
-
-
0021876857
-
Mitochondrial myopathies: Deficiencies localized to complex I and complex III of the mitochondrial respiratory chain
-
J.A. Morgan Hughes D.J. Cooper M. Clark Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain Biochem. Soc. Trans. 13 1985 648-650
-
(1985)
Biochem. Soc. Trans.
, vol.13
, pp. 648-650
-
-
Morgan Hughes, J.A.1
Cooper, D.J.2
Clark, M.3
-
28
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
I. Nishino A. Spinazzola M. Hirano Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Science 283 1999 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
31
-
-
0344010615
-
Phospholipid abnormalities in children with Barth syndrome
-
M. Schlame R.I. Kelley A. Feigenbaum J.A. Towbin P.M. Heerdt T. Schieble R.J.A. Wanders S. DiMauro T.J.J. Blanck Phospholipid abnormalities in children with Barth syndrome J. Am. Coll. Cardiol. 42 2003 1994-1999
-
(2003)
J. Am. Coll. Cardiol.
, vol.42
, pp. 1994-1999
-
-
Schlame, M.1
Kelley, R.I.2
Feigenbaum, A.3
Towbin, J.A.4
Heerdt, P.M.5
Schieble, T.6
Wanders, R.J.A.7
DiMauro, S.8
Blanck, T.J.J.9
-
32
-
-
0000027470
-
Human myopathy with giant abnormal mitochondria
-
G.M. Shy N.K. Gonatas Human myopathy with giant abnormal mitochondria Science 145 1964 493-496
-
(1964)
Science
, vol.145
, pp. 493-496
-
-
Shy, G.M.1
Gonatas, N.K.2
-
33
-
-
0013887753
-
Two childhood myopathies with abnormal mitochondria: I. Megaconial myopathy; II. Pleoconial myopathy
-
G.M. Shy N.K. Gonatas Two childhood myopathies with abnormal mitochondria: I. Megaconial myopathy; II. Pleoconial myopathy Brain 89 1966 133-158
-
(1966)
Brain
, vol.89
, pp. 133-158
-
-
Shy, G.M.1
Gonatas, N.K.2
-
34
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
J.N. Spelbrink F.-Y. Li V. Tiranti K. Nikali Q.-P. Yuan M. Tariq S. Wanrooij N. Garrido G. Comi L. Morandi L. Santoro A. Toscano G.-M. Fabrizi H. Somer R. Coxen D. Beeson J. Poulton A. Suomalainen H.T. Jacobs M. Zeviani C. Larsson Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria Nat. Genet. 28 2001 223-231
-
(2001)
Nat. Genet.
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.-Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.-P.5
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
Coxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
35
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
V. Tiranti K. Hoertnagel R. Carrozzo C. Galimberti M. Munaro M. Granatiero L. Zelante P. Gasparini R. Marzella M. Rocchi M.P. Bayona-Bafaluy J.A. Enriquez G. Uziel E. Bertini C. Dionisi-Vici B. Franco T. Meitinger M. Zeviani Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency Am. J. Hum. Genet. 63 1998 1609-1621
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
Zelante, L.7
Gasparini, P.8
Marzella, R.9
Rocchi, M.10
Bayona-Bafaluy, M.P.11
Enriquez, J.A.12
Uziel, G.13
Bertini, E.14
Dionisi-Vici, C.15
Franco, B.16
Meitinger, T.17
Zeviani, M.18
-
37
-
-
0017665294
-
Hereditary mitochondrial myopathy with lactic acidemia, a DeToni-Fanconi-Debre' syndrome, and a defective respiratory chain in voluntary striated muscles
-
J.P.M. Van Biervliet L. Bruinvis D. Ketting P.K. DeBree E.V. Heiden S.K. Wadman J.L. Willems H. Bookelman U. Van Haelst L.A. Monnens Hereditary mitochondrial myopathy with lactic acidemia, a DeToni-Fanconi-Debre' syndrome, and a defective respiratory chain in voluntary striated muscles Pediatr. Res. 11 1977 1088-1093
-
(1977)
Pediatr. Res.
, vol.11
, pp. 1088-1093
-
-
Van Biervliet, J.P.M.1
Bruinvis, L.2
Ketting, D.3
DeBree, P.K.4
Heiden, E.V.5
Wadman, S.K.6
Willems, J.L.7
Bookelman, H.8
Van Haelst, U.9
Monnens, L.A.10
-
38
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
G. Van Goethem B. Dermaut A. Lofgren J.-J. Martin C. Van Broeckhoven Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nat. Genet. 28 2001 211-212
-
(2001)
Nat. Genet.
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.-J.4
Van Broeckhoven, C.5
-
39
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
D.C. Wallace G. Singh M.T. Lott J.A. Hodge T.G. Schurr A. Lezza L.J. Elsas E.K. Nikoskelainen Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
40
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
M. Zeviani C.T. Moraes S. DiMauro Deletions of mitochondrial DNA in Kearns-Sayre syndrome Neurology 38 1988 1339-1346
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
41
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
M. Zeviani S. Servidei C. Gellera E. Bertini S. DiMauro S. DiDonato An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region Nature 339 1989 309-311
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
42
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Z. Zhu J. Yao T. Johns K. Fu I. De Bie C. Macmillan A.P. Cuthbert R.F. Newbold J.-c. Wang M. Chevrette G.K. Brown R.M. Brown E.A. Shoubridge SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome Nat. Genet. 20 1998 337-343
-
(1998)
Nat. Genet.
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
Fu, K.4
De Bie, I.5
Macmillan, C.6
Cuthbert, A.P.7
Newbold, R.F.8
Wang, J.-C.9
Chevrette, M.10
Brown, G.K.11
Brown, R.M.12
Shoubridge, E.A.13
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