-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrel BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG. Sequence and organization of the human mitochondrial genome. Nature 290: 437-65, 1981.
-
(1981)
Nature
, vol.290
, pp. 437-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrel, B.G.3
De Bruijn, M.H.L.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Schreier, P.H.11
Smith, A.J.H.12
Staden, R.13
Young, I.G.14
-
2
-
-
0026849690
-
Maternally transmitted diabetes and deafness associated with a 10.4 Kb mitochondrial DNA deletion
-
Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koonts DA, Wallace DC. Maternally transmitted diabetes and deafness associated with a 10.4 Kb mitochondrial DNA deletion. Nature Genet 1: 11-15, 1992.
-
(1992)
Nature Genet
, vol.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hedaya, E.V.3
Trounce, I.4
Polak, M.A.5
Koonts, D.A.6
Wallace, D.C.7
-
3
-
-
19144366747
-
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
-
Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 58: 963-70, 1996.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 963-970
-
-
Barrientos, A.1
Casademont, J.2
Saiz, A.3
Cardellach, F.4
Volpini, V.5
Solans, A.6
Tolosa, E.7
Urbano-Marquez, A.8
Estivill, X.9
Nunes, V.10
-
4
-
-
0029996721
-
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, Di Mauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 46: 1-329-34, 1996.
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.M.3
Hirano, M.4
Al-Jishi, A.5
Di Mauro, S.6
-
5
-
-
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-Péquinot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 11: 144-49, 1995.
-
(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-Péquinot, E.6
Munnich, A.7
Rötig, A.8
-
6
-
-
0001353580
-
The spectrum of mitochondrial DNA mutations in Leber hereditary optic neuropathy
-
Brown MD, Wallace DC . The spectrum of mitochondrial DNA mutations in Leber hereditary optic neuropathy. Clin Neurosci 2: 138-45, 1994.
-
(1994)
Clin Neurosci
, vol.2
, pp. 138-145
-
-
Brown, M.D.1
Wallace, D.C..2
-
7
-
-
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 57: 239-47, 1995.
-
(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
-
8
-
-
0025968499
-
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
-
Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 11: 2236-44, 1991.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
9
-
-
0026681490
-
MELAS: Clinical features, biochemistry, and molecular genetics
-
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S. MELAS: Clinical features, biochemistry, and molecular genetics. Ann Neurol 31: 391-98, 1992.
-
(1992)
Ann Neurol
, vol.31
, pp. 391-398
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
Moraes, C.T.4
Silvestri, G.5
Hirano, M.6
Simonetti, S.7
Angelini, C.8
Donati, M.A.9
Garcia, C.10
Martinuzzi, A.11
Mosewich, R.12
Servidei, S.13
Zammarchi, E.14
Bonilla, E.15
DeVivo, D.C.16
Rowland, L.P.17
Schon, E.A.18
DiMauro, S.19
-
10
-
-
0000350066
-
Mitochondrial glutathione oxidation correlates with age-associated oxidative damage to mitochondrial DNA
-
De La Asuncion JG, Millan A, Pla R, Bruseghini L, Esteras A, Pallardo FV, Sastre J, Viña J. Mitochondrial glutathione oxidation correlates with age-associated oxidative damage to mitochondrial DNA. FASEB J 10: 333-38, 1996.
-
(1996)
FASEB J
, vol.10
, pp. 333-338
-
-
De La Asuncion, J.G.1
Millan, A.2
Pla, R.3
Bruseghini, L.4
Esteras, A.5
Pallardo, F.V.6
Sastre, J.7
Viña, J.8
-
11
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh 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 syndrome. Ann Neurol 34: 410-12, 1993.
-
(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
-
12
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
de Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RMW, Bolhuis PA, van Oost BA. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58: 703-11, 1996.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 703-711
-
-
De Vries, D.D.1
Went, L.N.2
Bruyn, G.W.3
Scholte, H.R.4
Hofstra, R.M.W.5
Bolhuis, P.A.6
Van Oost, B.A.7
-
13
-
-
0027381483
-
Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
-
Dunbar DR, Moonie PA, Davidson D, Roberts R, Holt IJ. Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum Mol Genet 2: 1619-24, 1993.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1619-1624
-
-
Dunbar, D.R.1
Moonie, P.A.2
Davidson, D.3
Roberts, R.4
Holt, I.J.5
-
14
-
-
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 U S A 92: 6562-66, 1995.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 6562-6566
-
-
Dunbar, D.R.1
Moonie, P.A.2
Jacobs, H.T.3
Holt, I.J.4
-
16
-
-
0030052504
-
A study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing
-
Ghosh SS, Fahy E, Bodis-Wollner I, Sherman J, Howell N. A study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet 58: 325-34, 1996.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 325-334
-
-
Ghosh, S.S.1
Fahy, E.2
Bodis-Wollner, I.3
Sherman, J.4
Howell, N.5
-
17
-
-
0025666322
-
Leu(UUR) gene associated with MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with MELAS subgroup of mitochondrial encephalomyopathies. Nature 348, 651-53, 1990.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
18
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 16: 226-34, 1997.
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
Trounce, I.A.4
MacGregor, G.R.5
Wallace, D.C.6
-
19
-
-
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, Lenno GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE. 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 116: 617-32, 1993.
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Lenno, G.G.4
Lawton, N.F.5
Kennedy, C.R.6
Morgan-Hughes, J.A.7
Harding, A.E.8
-
20
-
-
0025825012
-
Strongly succinate dehydrogenase-reactive vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Hasegawa H, Matsuoka T, Goto Y, Nonaka I. Strongly succinate dehydrogenase-reactive vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 29: 601-5, 1991.
-
(1991)
Ann Neurol
, vol.29
, pp. 601-605
-
-
Hasegawa, H.1
Matsuoka, T.2
Goto, Y.3
Nonaka, I.4
-
21
-
-
0025836655
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi JI, Ohta S, Kikuchi A, Takemitsu M, Goto Y-I, Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A 88: 10614-18, 1991.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.I.1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto, Y.-I.5
Nonaka, I.6
-
22
-
-
0026795527
-
MELAS. An original case and clinical criteria for diagnosis
-
Hirano M, Ricci E, Koenigsberger R, Defendini R, Pavlakis S, DeVivo DC, DiMauro S, Rowland LP. MELAS. An original case and clinical criteria for diagnosis. Neuromuscul Disord 2: 125-35, 1992.
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 125-135
-
-
Hirano, M.1
Ricci, E.2
Koenigsberger, R.3
Defendini, R.4
Pavlakis, S.5
DeVivo, D.C.6
DiMauro, S.7
Rowland, L.P.8
-
23
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes, JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-19, 1988.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
24
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt IJ, Harding AE, Petty RHK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46: 428-33, 1990.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.H.K.3
Morgan-Hughes, J.A.4
-
25
-
-
0029006067
-
Altered properties of mitochondrial ATP-synthase in patients with a T→G mutation in the ATPase (subunit 6) gene at position 8993
-
Houstek J, Klement P, Hermanska J, Houstokova H, Hanikova H, Van den Bogert C, Zeman J. Altered properties of mitochondrial ATP-synthase in patients with a T→G mutation in the ATPase (subunit 6) gene at position 8993. Biochim Biophys Acta 1271: 349-57, 1995.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 349-357
-
-
Houstek, J.1
Klement, P.2
Hermanska, J.3
Houstokova, H.4
Hanikova, H.5
Van Den Bogert, C.6
Zeman, J.7
-
26
-
-
0027458564
-
Leber hereditary optic neuropathy: The etiologieal role of a mutation in the mitochondrial cytochrome b gene
-
Howell N, Kubacka I, Halvorson S, Mackey DA. Leber hereditary optic neuropathy: The etiologieal role of a mutation in the mitochondrial cytochrome b gene. Genetics 133: 133-36, 1993.
-
(1993)
Genetics
, vol.133
, pp. 133-136
-
-
Howell, N.1
Kubacka, I.2
Halvorson, S.3
Mackey, D.A.4
-
27
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48: 1147-53, 1991.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1147-1153
-
-
Huoponen, K.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.K.4
Savontaus, M.L.5
-
28
-
-
0027425369
-
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 196: 810-15, 1993.
-
(1993)
Biochem Biophys Res Commun
, vol.196
, pp. 810-815
-
-
Johns, D.R.1
Neufeld, M.J.2
-
29
-
-
0026757115
-
An ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ, Park RD. An ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187: 1551-57, 1992.
-
(1992)
Biochem Biophys Res Commun
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
30
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A 91: 6206-10, 1994.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
31
-
-
19144363053
-
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
-
Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 58: 763-69, 1996.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 763-769
-
-
Kaukonen, J.A.1
Amati, P.2
Suomalainen, A.3
Rötig, A.4
Piscaglia, M.G.5
Salvi, F.6
Weissenbach, J.7
Fratta, G.8
Comi, G.9
Peltonen, L.10
Zeviani, M.11
-
32
-
-
0028337837
-
Leber hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
-
Kellar-Wood H, Robertson N, Govan GG, Compston DAS, Harding AE. Leber hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 36: 109-12, 1994.
-
(1994)
Ann Neurol
, vol.36
, pp. 109-112
-
-
Kellar-Wood, H.1
Robertson, N.2
Govan, G.G.3
Compston, D.A.S.4
Harding, A.E.5
-
34
-
-
0029032410
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the 3243 A-G mutation of mitochondrial DNA
-
Mariotta C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the 3243 A-G mutation of mitochondrial DNA. J Neurol 242: 304-12, 1995.
-
(1995)
J Neurol
, vol.242
, pp. 304-312
-
-
Mariotta, C.1
Savarese, N.2
Suomalainen, A.3
Rimoldi, M.4
Comi, G.5
Prelle, A.6
Antozzi, C.7
Servidei, S.8
Jarre, L.9
DiDonato, S.10
Zeviani, M.11
-
37
-
-
0025968682
-
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
-
McShane MA, Hammans SR, Sweeney MG, Holt IJ, Beattie TJ, Brett EM, Harding AE. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA Am J Hum Genet 48: 39-42, 1991.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 39-42
-
-
McShane, M.A.1
Hammans, S.R.2
Sweeney, M.G.3
Holt, I.J.4
Beattie, T.J.5
Brett, E.M.6
Harding, A.E.7
-
38
-
-
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 U S A 86: 9509-13, 1989.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 9509-9513
-
-
Mita, S.1
Schmidt, B.2
Schon, E.A.3
DiMauro, S.4
Bonilla, E.5
-
39
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S, Nonaka I, Koga Y, Spiro AJ, Bromwell KW, Schmidt B, Schotland DL, Zupanc M, DeVivo DC, Schon EA, Rowland LP. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320: 1293-99, 1989.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
Nakase, H.7
Bonilla, E.8
Werneck, L.C.9
Servidei, S.10
Nonaka, I.11
Koga, Y.12
Spiro, A.J.13
Bromwell, K.W.14
Schmidt, B.15
Schotland, D.L.16
Zupanc, M.17
DeVivo, D.C.18
Schon, E.A.19
Rowland, L.P.20
more..
-
40
-
-
0026015896
-
mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler H-J, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48: 492-501, 1991.
-
(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
-
41
-
-
0025881563
-
The clinical characteristics of pedigrees of Leber hereditary optic neuropathy with the 11778 mutation
-
Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111: 750-62, 1994.
-
(1994)
Am J Ophthalmol
, vol.111
, pp. 750-762
-
-
Newman, N.J.1
Lott, M.T.2
Wallace, D.C.3
-
42
-
-
0028935177
-
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy
-
Nijtmans LGJ, Barth PG, Lincke CR, Van Galen MJM, Zwart R, Klement P, Bolhuis PA, Ruitenbeek W, Wanders RJA, Van den Bogert C. Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. Biochim Biophys Acta 1270: 193-201, 1995.
-
(1995)
Biochim Biophys Acta
, vol.1270
, pp. 193-201
-
-
Nijtmans, L.G.J.1
Barth, P.G.2
Lincke, C.R.3
Van Galen, M.J.M.4
Zwart, R.5
Klement, P.6
Bolhuis, P.A.7
Ruitenbeek, W.8
Wanders, R.J.A.9
Van Den Bogert, C.10
-
43
-
-
0022527309
-
Leber disease and dystonia: A mitochondrial disease
-
Novotny EJ, Singh G, Wallace DC, Dorfman LJ, Louis A, Sogg RL, Steinman L. Leber disease and dystonia: A mitochondrial disease. Neurology 36: 1053-60, 1986.
-
(1986)
Neurology
, vol.36
, pp. 1053-1060
-
-
Novotny, E.J.1
Singh, G.2
Wallace, D.C.3
Dorfman, L.J.4
Louis, A.5
Sogg, R.L.6
Steinman, L.7
-
44
-
-
0024499802
-
Duplications of mitochondrial DNA in mitochondrial myopathy
-
Poulton J, Deadman ME, Gardiner RM. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet 1: 236-40, 1989.
-
(1989)
Lancet
, vol.1
, pp. 236-240
-
-
Poulton, J.1
Deadman, M.E.2
Gardiner, R.M.3
-
45
-
-
0027226069
-
Mitochondria! ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman CM, Bu X, Oxtas S, Qiu W, Amos KS, Cortopassi GA Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N. Mitochondria! ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4: 289-93, 1993.
-
(1993)
Nat Genet
, vol.4
, pp. 289-293
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, C.M.3
Bu, X.4
Oxtas, S.5
Qiu, W.6
Amos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.I.10
Shohat, M.11
Fischel-Ghodsian, N.12
-
46
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman S, Blok RB, Dahl H-H, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 39: 343-51, 1996.
-
(1996)
Ann Neurol
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.-H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
47
-
-
0026462744
-
Diabetes mellitus associated with a pathogenic point mutation in mtDNA
-
Reardon W, Ross RJM, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC. Diabetes mellitus associated with a pathogenic point mutation in mtDNA. Lancet 340: 1376-79, 1992.
-
(1992)
Lancet
, vol.340
, pp. 1376-1379
-
-
Reardon, W.1
Ross, R.J.M.2
Sweeney, M.G.3
Luxon, L.M.4
Pembrey, M.E.5
Harding, A.E.6
Trembath, R.C.7
-
48
-
-
0028949749
-
The clinical features of Leber hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
-
Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118: 319-37, 1995.
-
(1995)
Brain
, vol.118
, pp. 319-337
-
-
Riordan-Eva, P.1
Sanders, M.D.2
Govan, G.G.3
Sweeney, M.G.4
Da Costa, J.5
Harding, A.E.6
-
49
-
-
0025133424
-
Pearson marrow-pancreas syndrome. A multisystem mitochondrial disorder of infancy
-
Rötig A, Cormier V, Blache S, Bonnefont J-P, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray J-M, Munnich A. Pearson marrow-pancreas syndrome. A multisystem mitochondrial disorder of infancy. J Clin Invest 86: 1601-8, 1990.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rötig, A.1
Cormier, V.2
Blache, S.3
Bonnefont, J.-P.4
Ledeist, F.5
Romero, N.6
Schmitz, J.7
Rustin, P.8
Fischer, A.9
Saudubray, J.-M.10
Munnich, A.11
-
50
-
-
0027526665
-
Deletion of the mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
Rötig A, Cormier V, Chatelain P, Francois R, Saudubray J-M, Rustin P, Munnich A. Deletion of the mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91: 1095-98, 1993.
-
(1993)
J Clin Invest
, vol.91
, pp. 1095-1098
-
-
Rötig, A.1
Cormier, V.2
Chatelain, P.3
Francois, R.4
Saudubray, J.-M.5
Rustin, P.6
Munnich, A.7
-
51
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletions 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 deletions of human mitochondrial DNA. Science 244: 346-49, 1989.
-
(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
-
52
-
-
0030763848
-
Mitochondrial encephalomyopathies: Gene mutation
-
Servidei S. Mitochondrial encephalomyopathies: Gene mutation. Neuromuscul Disord 7: XII-XVII, 1997.
-
(1997)
Neuromuscul Disord
, vol.7
-
-
Servidei, S.1
-
53
-
-
0025191359
-
Widespread tissue distribution and transmission of mitochondrial DNA deletions in Kearns-Sayre syndrome
-
Shanske S, Moraes CT, Lombes A, Miranda AF, Bonilla E, Lewis P, Whelan MA, Ellsworth CA, DiMauro S. Widespread tissue distribution and transmission of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology 40: 24-28, 1990.
-
(1990)
Neurology
, vol.40
, pp. 24-28
-
-
Shanske, S.1
Moraes, C.T.2
Lombes, A.3
Miranda, A.F.4
Bonilla, E.5
Lewis, P.6
Whelan, M.A.7
Ellsworth, C.A.8
DiMauro, S.9
-
55
-
-
0024317560
-
Spontaneous Keams-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, Costigan DA, Wallace DC. Spontaneous Keams-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip replication model and metabolic therapy. Proc Natl Acad Sci U S A. 86: 7952-56,1989,
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, M.T.2
Voljavec, A.S.3
Costigan, D.A.4
Wallace, D.C.5
-
56
-
-
0025276996
-
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial diseases
-
Shoubridge EA, Karpati G, Hastings KEM. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial diseases. Cell 62: 43-49, 1990.
-
(1990)
Cell
, vol.62
, pp. 43-49
-
-
Shoubridge, E.A.1
Karpati, G.2
Hastings, K.E.M.3
-
57
-
-
0027190874
-
Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF" mutation)
-
Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF" mutation). Neurology 43: 1200-1206, 1993.
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
Shanske, S.4
Servidei, S.5
Graf, W.D.6
Sumi, M.7
DiMauro, S.8
-
59
-
-
0028833524
-
An autosomal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A, Kaukonen JA, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L. An autosomal locus predisposing to deletions of mitochondrial DNA Nat Genet 9: 146-51, 1995.
-
(1995)
Nat Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.A.2
Amati, P.3
Timonen, R.4
Haltia, M.5
Weissenbach, J.6
Zeviani, M.7
Somer, H.8
Peltonen, L.9
-
60
-
-
0026693837
-
Evidence against a locus close to DXS7 determining visual loss in Italian and British families with Leber hereditary optic neuropathy
-
Sweeney MG, Davis MB, Lashwood AM, Brockington M, Toscano A, Harding AE. Evidence against a locus close to DXS7 determining visual loss in Italian and British families with Leber hereditary optic neuropathy. Am J Hum Genet 51: 741-48, 1992.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 741-748
-
-
Sweeney, M.G.1
Davis, M.B.2
Lashwood, A.M.3
Brockington, M.4
Toscano, A.5
Harding, A.E.6
-
61
-
-
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 JTR, Wherret J, Smith C, Rudd N, Petrova-Benedict P, Robinson BH. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50: 852-58, 1992.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
Clarke, J.T.R.4
Wherret, J.5
Smith, C.6
Rudd, N.7
Petrova-Benedict, P.8
Robinson, B.H.9
-
62
-
-
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 15: 212-15, 1997.
-
(1997)
Nat Genet
, vol.15
, pp. 212-215
-
-
Taylor, R.W.1
Chinnery, P.F.2
Turnbull, D.M.3
Lightowlers, R.N.4
-
63
-
-
0028332916
-
Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance
-
Torroni A, Wallace DC. Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr 26: 251-61, 1994.
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 251-261
-
-
Torroni, A.1
Wallace, D.C.2
-
64
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler H-J, Andreetta F, Moraes CT, Bonilla E, Arnaudo E, Danon MJ, Glass S, Zelaya BM, Vamos E, Telerman-Toppet N, Shanske S, Kadenbach B, DiMauro S, Schon EA. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42: 209-17, 1992.
-
(1992)
Neurology
, vol.42
, pp. 209-217
-
-
Tritschler, H.-J.1
Andreetta, F.2
Moraes, C.T.3
Bonilla, E.4
Arnaudo, E.5
Danon, M.J.6
Glass, S.7
Zelaya, B.M.8
Vamos, E.9
Telerman-Toppet, N.10
Shanske, S.11
Kadenbach, B.12
DiMauro, S.13
Schon, E.A.14
-
65
-
-
0030749664
-
The mitochondrial disease associated with the 8993 T-G mutation of 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, Zeviani M. The mitochondrial disease associated with the 8993 T-G mutation of mitochondrial ATPase 6 gene: A clinical, biochemical and molecular study in six families. J Neurol Neurosurg Psychiatry 63: 16-22, 1907.
-
(1907)
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
Zeviani, M.7
-
66
-
-
0026034238
-
Optic atrophy in Leber hereditary optic neuroretinopathy is determined by an X-chromosomal gene closely linked to DXS7
-
Vilkki J, Savontaus ML, Aula P, Nikoskelainen EK. Optic atrophy in Leber hereditary optic neuroretinopathy is determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 48: 486-91, 1991.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 486-491
-
-
Vilkki, J.1
Savontaus, M.L.2
Aula, P.3
Nikoskelainen, E.K.4
-
67
-
-
0002600547
-
Report of the committee on human mitochondrial DNA
-
Cuticchia AJ, Pearson PL, eds. Baltimore: Johns Hopkins University Press
-
Wallace DC, Lott MT, Brown MD, Huoponen K, Torroni A. Report of the committee on human mitochondrial DNA. In: Cuticchia AJ, Pearson PL, eds. Human gene mapping, 1994: A compendium. Baltimore: Johns Hopkins University Press, pp 910-54, 1995.
-
(1995)
Human Gene Mapping, 1994: A Compendium
, pp. 910-954
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
Huoponen, K.4
Torroni, A.5
-
68
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JE, Schur TG, Lezza AMS, Elsas LJ, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Science 242: 1427-30, 1988.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.E.4
Schur, T.G.5
Lezza, A.M.S.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
69
-
-
0024163051
-
Familial mitochondrial encephalomyopathies (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
-
Wallace DC, Zeng X, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC. Familial mitochondrial encephalomyopathies (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55: 601-10, 1988.
-
(1988)
Cell
, vol.55
, pp. 601-610
-
-
Wallace, D.C.1
Zeng, X.2
Lott, M.T.3
Shoffner, J.M.4
Hodge, J.A.5
Kelley, R.I.6
Epstein, C.M.7
Hopkins, L.C.8
-
70
-
-
0029027557
-
Searching for genes affecting the structural integrity of the mitochondrial genome
-
Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V. Searching for genes affecting the structural integrity of the mitochondrial genome. Biochim Biophys Acta 1271: 153-58, 1995.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 153-158
-
-
Zeviani, M.1
Amati, P.2
Comi, G.3
Fratta, G.4
Mariotti, C.5
Tiranti, V.6
-
71
-
-
0025250482
-
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
-
Zeviani M, Bresolin X, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease. Am J Hum Genet 47: 904-14, 1990.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 904-914
-
-
Zeviani, M.1
Bresolin, X.2
Gellera, C.3
Bordoni, A.4
Pannacci, M.5
Amati, P.6
Moggio, M.7
Servidei, S.8
Scarlato, G.9
DiDonato, S.10
-
72
-
-
0025807222
-
Leu(UUR)
-
Leu(UUR). Lancet 338: 143-47, 1991.
-
(1991)
Lancet
, vol.338
, pp. 143-147
-
-
Zeviani, M.1
Gellera, C.2
Antozzi, C.3
Rimoldi, M.4
Morandi, L.5
Villani, F.6
Tiranti, V.7
DiDonato, S.8
-
73
-
-
0025367794
-
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
-
Zeviani M, Gellera C, Pannacci M, Uziel G, Prelle A, Servidei S, DiDonato S. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol 28: 94-97, 1990.
-
(1990)
Ann Neurol
, vol.28
, pp. 94-97
-
-
Zeviani, M.1
Gellera, C.2
Pannacci, M.3
Uziel, G.4
Prelle, A.5
Servidei, S.6
DiDonato, S.7
-
74
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38: 1339-46, 1988.
-
(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
Rowland, L.P.7
-
75
-
-
0027865639
-
Lys gene
-
Lys gene. Eur J Hum Genet 1: 80-87, 1993.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 80-87
-
-
Zeviani, M.1
Muntoni, F.2
Savarese, N.3
Serra, G.4
Tiranti, V.5
Carrara, F.6
Mariotti, C.7
DiDonato, S.8
-
76
-
-
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, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339: 309-11, 1989.
-
(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
|