-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrel BG, DeBruijin M, Coulson AR, Drouin J, Eperon IC et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrel, B.G.3
DeBruijin, M.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
-
2
-
-
0001698695
-
Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections
-
Engel WK, Cunnigham GC (1963) Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections. Neurology 13:919-923
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunnigham, G.C.2
-
3
-
-
0028326541
-
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
-
Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA (1994) Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 3:449-454
-
(1994)
Hum Mol Genet
, vol.3
, pp. 449-454
-
-
Petruzzella, V.1
Moraes, C.T.2
Sano, M.C.3
Bonilla, E.4
DiMauro, S.5
Schon, E.A.6
-
4
-
-
0029059278
-
Rearranged mitochondrial genomes are present in human oocytes
-
Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon EA (1995) Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 57:239-247
-
(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
-
6
-
-
0033917385
-
Mutations in mtDNA: Are we scraping the bottom of the barrel?
-
DiMauro S, Andreu AL (2000) Mutations in mtDNA: Are we scraping the bottom of the barrel? Brain Pathol 10:431-441
-
(2000)
Brain Pathol
, vol.10
, pp. 431-441
-
-
DiMauro, S.1
Andreu, A.L.2
-
7
-
-
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 W-Q, Arnos K et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 4:289-293
-
(1993)
Nature Genet
, vol.4
, pp. 289-293
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qiu, W.-Q.6
Arnos, K.7
-
8
-
-
0033366515
-
Maternally inherited cardiomyopathy: An atypical presentation of the 12S rRNA A1555G mutation
-
Santorelli FM, Tanji K, Manta P, Casali C, Krishna S, Hays AP, Mancini DM et al. (1999) Maternally inherited cardiomyopathy: An atypical presentation of the 12S rRNA A1555G mutation. Am J Hum Genet 64:295-300
-
(1999)
Am J Hum Genet
, vol.64
, pp. 295-300
-
-
Santorelli, F.M.1
Tanji, K.2
Manta, P.3
Casali, C.4
Krishna, S.5
Hays, A.P.6
Mancini, D.M.7
-
9
-
-
0033768121
-
A novel mitochondrial 12S rRNA point mutation in Parkinsonism, deafness and neuropathy
-
Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S et al. (2000) A novel mitochondrial 12S rRNA point mutation in Parkinsonism, deafness and neuropathy. Ann Neurol 48:730-736
-
(2000)
Ann Neurol
, vol.48
, pp. 730-736
-
-
Thyagarajan, D.1
Bressman, S.2
Bruno, C.3
Przedborski, S.4
Shanske, S.5
Lynch, T.6
Fahn, S.7
-
10
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza A, Elsas LJ et al. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
-
(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
-
11
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savon-taus ML (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48:1147-1153
-
(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
-
12
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1557
-
(1992)
Biochem Biophys Res Commun
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
14
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
-
De Vries DD, van EB, Gabreels F, Ruitenbeek W, van Oost BA (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 34: 410-412
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
De Vries, D.D.1
Van, E.B.2
Gabreels, F.3
Ruitenbeek, W.4
Van Oost, B.A.5
-
15
-
-
0028810803
-
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
-
De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr Neurol 13:242-246
-
(1995)
Pediatr Neurol
, vol.13
, pp. 242-246
-
-
De Meirleir, L.1
Seneca, S.2
Lissens, W.3
Schoentjes, E.4
Desprechins, B.5
-
16
-
-
0033013692
-
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
-
Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T et al. (1999) Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 45:820-823
-
(1999)
Ann Neurol
, vol.45
, pp. 820-823
-
-
Andreu, A.L.1
Tanji, K.2
Bruno, C.3
Hadjigeorgiou, G.M.4
Sue, C.M.5
Jay, C.6
Ohnishi, T.7
-
17
-
-
0033910874
-
Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy
-
Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA et al. (2000) Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Am J Hum Genet 66:1900-1904
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1900-1904
-
-
Musumeci, O.1
Andreu, A.L.2
Shanske, S.3
Bresolin, N.4
Comi, G.P.5
Rothstein, R.6
Schon, E.A.7
-
18
-
-
0033287128
-
Exercise intolerance and the mitochon-drial respiratory chain
-
DiMauro S (1999) Exercise intolerance and the mitochon-drial respiratory chain. Ital J Neurol Sci 20:387-393
-
(1999)
Ital J Neurol Sci
, vol.20
, pp. 387-393
-
-
DiMauro, S.1
-
19
-
-
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, Pallotti F et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. New Engl J Med 341:1037-1044
-
(1999)
New 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
Pallotti, F.7
-
20
-
-
0033659683
-
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
-
Keightley JA, Anitori R, Burton MD, Quan F, Buist NRM, Kennaway NG (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 67:1400-1410
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1400-1410
-
-
Keightley, J.A.1
Anitori, R.2
Burton, M.D.3
Quan, F.4
Buist, N.R.M.5
Kennaway, N.G.6
-
21
-
-
0030003760
-
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
-
Keightley JA, Hoffbuhr KC, Burton MD, Salas V, Johnston WSW, Penn AMW, Buist NRM et al. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 12:410-415
-
(1996)
Nat Genet
, vol.12
, pp. 410-415
-
-
Keightley, J.A.1
Hoffbuhr, K.C.2
Burton, M.D.3
Salas, V.4
Johnston, W.S.W.5
Penn, A.M.W.6
Buist, N.R.M.7
-
22
-
-
0033811149
-
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA
-
Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T et al. (2000) Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA. Neurology 55:644-649
-
(2000)
Neurology
, vol.55
, pp. 644-649
-
-
Karadimas, C.L.1
Greenstein, P.2
Sue, C.M.3
Joseph, J.T.4
Tanji, K.5
Haller, R.G.6
Taivassalo, T.7
-
23
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 238:326-328
-
(1997)
Biochem Biophys Res Commun
, vol.238
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
Shanske, S.4
Vilarinho, L.5
Hays, A.P.6
DiMauro, S.7
-
24
-
-
0032707838
-
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
-
Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood NW, Nelson IP, Morgan-Hughes JA et al. (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 46:916-919
-
(1999)
Ann Neurol
, vol.46
, pp. 916-919
-
-
Pulkes, T.1
Eunson, L.2
Patterson, V.3
Siddiqui, A.4
Wood, N.W.5
Nelson, I.P.6
Morgan-Hughes, J.A.7
-
25
-
-
0029046428
-
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
-
Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, DiMauro S (1995) A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 5:391-398
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 391-398
-
-
Manfredi, G.1
Schon, E.A.2
Moraes, C.T.3
Bonilla, E.4
Berry, G.T.5
DiMauro, S.6
-
26
-
-
0034327415
-
A novel frameshift mutation of the mtDNA COXIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
-
Tiranti V, Corona P, Greco M, Taanman J-W, Carrara F, Lamantea E, Nijtmans L et al. (2000) A novel frameshift mutation of the mtDNA COXIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet 9:2733-2742
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2733-2742
-
-
Tiranti, V.1
Corona, P.2
Greco, M.3
Taanman, J.-W.4
Carrara, F.5
Lamantea, E.6
Nijtmans, L.7
-
27
-
-
0031915174
-
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
-
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F et al. (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43:110-116
-
(1998)
Ann Neurol
, vol.43
, pp. 110-116
-
-
Comi, G.P.1
Bordoni, A.2
Salani, S.3
Franceschina, L.4
Sciacco, M.5
Prelle, A.6
Fortunato, F.7
-
28
-
-
0033888963
-
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
-
Andreu AL, Checcarelli N, Iwata S, Shanske S, DiMauro S (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res 48:311-314
-
(2000)
Pediatr Res
, vol.48
, pp. 311-314
-
-
Andreu, A.L.1
Checcarelli, N.2
Iwata, S.3
Shanske, S.4
DiMauro, S.5
-
29
-
-
0032807973
-
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
-
Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J et al. (1999) A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet 104:460-466
-
(1999)
Hum Genet
, vol.104
, pp. 460-466
-
-
Valnot, I.1
Kassis, J.2
Chretien, D.3
De Lonlay, P.4
Parfait, B.5
Munnich, A.6
Kachaner, J.7
-
30
-
-
0031467871
-
Heteroplasmic point mutations of mitochondrial DNA subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia
-
Gattermann N, Retzlaff S, Wang YL, Hofhaus G, Heinisch J, Aul C, Schneider W (1997) Heteroplasmic point mutations of mitochondrial DNA subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 90:4961-4972
-
(1997)
Blood
, vol.90
, pp. 4961-4972
-
-
Gattermann, N.1
Retzlaff, S.2
Wang, Y.L.3
Hofhaus, G.4
Heinisch, J.5
Aul, C.6
Schneider, W.7
-
31
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King MP, Attardi G (1989) Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation. Science 246:500-503
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
32
-
-
0034010157
-
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
-
Chinnery PF, Taylor DJ, Brown DT, Manners D, Styles P, Lodi R (2000) Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo. Ann Neurol 47:381-384
-
(2000)
Ann Neurol
, vol.47
, pp. 381-384
-
-
Chinnery, P.F.1
Taylor, D.J.2
Brown, D.T.3
Manners, D.4
Styles, P.5
Lodi, R.6
-
33
-
-
0033950567
-
Oxidative phosphorylation defect in the brains of carriers of the tRNAleu (UUR) A3243G mutation in a MELAS pedigree
-
Dubeau F, De Stefano N, Zifkin BG, Arnold DL, Shoubridge EA (2000) Oxidative phosphorylation defect in the brains of carriers of the tRNAleu (UUR) A3243G mutation in a MELAS pedigree. Ann Neurol 47:179-185
-
(2000)
Ann Neurol
, vol.47
, pp. 179-185
-
-
Dubeau, F.1
De Stefano, N.2
Zifkin, B.G.3
Arnold, D.L.4
Shoubridge, E.A.5
-
34
-
-
0002655063
-
Metabolic, structural and neuropsychological deficits in mitochondrial encephalomyopathies assessed by 1H MRSI, MRI and neuropsychological testing
-
Shungu DC, Sano M, Millar WS, Polanco Y, Kaufmann P, DeLaPaz RL, DiMauro S et al. (1999) Metabolic, structural and neuropsychological deficits in mitochondrial encephalomyopathies assessed by 1H MRSI, MRI and neuropsychological testing. Proc Intl Soc Mag Reson Med 7:49
-
(1999)
Proc Intl Soc Mag Reson Med
, vol.7
, pp. 49
-
-
Shungu, D.C.1
Sano, M.2
Millar, W.S.3
Polanco, Y.4
Kaufmann, P.5
DeLaPaz, R.L.6
DiMauro, S.7
-
35
-
-
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-i, Nonaka I, Hayashi J-I (2000) Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26:176-181
-
(2000)
Nat Genet
, vol.26
, pp. 176-181
-
-
Inoue, K.1
Nakada, K.2
Ogura, A.3
Isobe, K.4
Goto, Y.-I.5
Nonaka, I.6
Hayashi, J.-I.7
-
36
-
-
0033775671
-
A debut for mito-mouse
-
Shoubridge EA (2000) A debut for mito-mouse. Nat Genet 26:132-134
-
(2000)
Nat Genet
, vol.26
, pp. 132-134
-
-
Shoubridge, E.A.1
-
37
-
-
0034687797
-
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
-
Sligh JE, Levy SE, Waymire KG, Allard P, Dillehay DL, Nusinowitz S, Heckenlively JR et al. (2000) Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci USA 97:14461-14466
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 14461-14466
-
-
Sligh, J.E.1
Levy, S.E.2
Waymire, K.G.3
Allard, P.4
Dillehay, D.L.5
Nusinowitz, S.6
Heckenlively, J.R.7
-
38
-
-
0035895209
-
Transmitochondrial mice: Proof of principle and promises
-
Hirano M (2001) Transmitochondrial mice: Proof of principle and promises. Proc Nat Acad Sci USA 98:401-403
-
(2001)
Proc Nat Acad Sci USA
, vol.98
, pp. 401-403
-
-
Hirano, M.1
-
39
-
-
0034444472
-
Mitochondrial encephalomyopathies: Therapeutic approaches
-
DiMauro S, Hirano M, Schon EA (2000) Mitochondrial encephalomyopathies: Therapeutic approaches. Neurol Sci 21:S901-S908
-
(2000)
Neurol Sci
, vol.21
-
-
DiMauro, S.1
Hirano, M.2
Schon, E.A.3
-
40
-
-
0031038812
-
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
-
Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN (1997) Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 15:212-215
-
(1997)
Nat Genet
, vol.15
, pp. 212-215
-
-
Taylor, R.W.1
Chinnery, P.F.2
Turnbull, D.M.3
Lightowlers, R.N.4
-
41
-
-
0033515548
-
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
-
Manfredi G, Gupta N, Vazquez-Memije ME, Sadlock JE, Spinazzola A, De Vivo DC, Schon EA (1999) Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 274:9386-9391
-
(1999)
J Biol Chem
, vol.274
, pp. 9386-9391
-
-
Manfredi, G.1
Gupta, N.2
Vazquez-Memije, M.E.3
Sadlock, J.E.4
Spinazzola, A.5
De Vivo, D.C.6
Schon, E.A.7
-
42
-
-
0030926104
-
Reversal of a mitochondrial DNA defect in human skeletal muscle
-
Clark KM, Bindoff LA, Lightowlers RN, Andrews RM, Griffiths PG, Johnson MA, Brierly EJ et al. (1997) Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 16:222-224
-
(1997)
Nat Genet
, vol.16
, pp. 222-224
-
-
Clark, K.M.1
Bindoff, L.A.2
Lightowlers, R.N.3
Andrews, R.M.4
Griffiths, P.G.5
Johnson, M.A.6
Brierly, E.J.7
-
43
-
-
0029658242
-
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
-
Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet 5:1835-1840
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1835-1840
-
-
Fu, K.1
Hartlen, R.2
Johns, T.3
Genge, A.4
Karpati, G.5
Shoubridge, E.A.6
-
44
-
-
0030779230
-
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibers in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
-
Shoubridge EA, Johns T, Karpati G (1997) Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibers in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. Hum Mol Genet 6:2239-2242
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2239-2242
-
-
Shoubridge, E.A.1
Johns, T.2
Karpati, G.3
-
45
-
-
0033401240
-
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM (1999) Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 13:769-772
-
(1999)
Eye
, vol.13
, pp. 769-772
-
-
Andrews, R.M.1
Griffiths, P.G.2
Chinnery, P.F.3
Turnbull, D.M.4
-
46
-
-
0033047456
-
Gene shifting: A novel therapy for mitochondrial myopathy
-
Taivassalo T, Fu K, Johns T, Arnold D, Karpati G, Shoubridge EA (1999) Gene shifting: a novel therapy for mitochon-drial myopathy. Hum Mol Genet 8:1047-1052
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1047-1052
-
-
Taivassalo, T.1
Fu, K.2
Johns, T.3
Arnold, D.4
Karpati, G.5
Shoubridge, E.A.6
-
47
-
-
0035104763
-
Mitochondria in human offspring derived from ooplasmic transplantation
-
Barritt JA, Brenner CA, Malter HE, Cohen J (2001) Mitochondria in human offspring derived from ooplasmic transplantation. Hum Reprod 16:513-516
-
(2001)
Hum Reprod
, vol.16
, pp. 513-516
-
-
Barritt, J.A.1
Brenner, C.A.2
Malter, H.E.3
Cohen, J.4
-
48
-
-
0029316832
-
Germ-line therapy to cure mitochondrial disease: Protocol and ethics of in vitro ovum nuclear transplantation
-
Rubenstein DS, Thomasma DC, Schon EA, Zinaman MJ (1995) Germ-line therapy to cure mitochondrial disease: Protocol and ethics of in vitro ovum nuclear transplantation. Camb Q Healthc Ethics 4:316-339
-
(1995)
Camb Q Healthc Ethics
, vol.4
, pp. 316-339
-
-
Rubenstein, D.S.1
Thomasma, D.C.2
Schon, E.A.3
Zinaman, M.J.4
-
49
-
-
0003393207
-
The pros and cons of mitochondrial manipulation in the human germ line
-
in press
-
Thorburn DR, Dahl H-HM, Singh KK (2001) The pros and cons of mitochondrial manipulation in the human germ line. Mitochondrion 1 (in press).
-
(2001)
Mitochondrion
, vol.1
-
-
Thorburn, D.R.1
Dahl, H.-H.M.2
Singh, K.K.3
-
50
-
-
0032712903
-
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
-
White SL, Shanske S, McGill JJ, Mountain H, Geraghty MT, DiMauro S, Dahl H-HM et al. (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. J Inherit Metab Dis 22:899-914
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 899-914
-
-
White, S.L.1
Shanske, S.2
McGill, J.J.3
Mountain, H.4
Geraghty, M.T.5
DiMauro, S.6
Dahl, H.-H.M.7
-
51
-
-
0032700777
-
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
-
White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, DiMauro S (1999) Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. Prenat Diagn 19:1165-1168
-
(1999)
Prenat Diagn
, vol.19
, pp. 1165-1168
-
-
White, S.L.1
Shanske, S.2
Biros, I.3
Warwick, L.4
Dahl, H.M.5
Thorburn, D.R.6
DiMauro, S.7
-
52
-
-
0030271757
-
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
-
Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G, Mousson B (1996) A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 10:389-391
-
(1996)
Mol Cell Probes
, vol.10
, pp. 389-391
-
-
Dumoulin, R.1
Sagnol, I.2
Ferlin, T.3
Bozon, D.4
Stepien, G.5
Mousson, B.6
-
53
-
-
0031744009
-
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy
-
Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L et al. (1998) Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 51:1444-1447
-
(1998)
Neurology
, vol.51
, pp. 1444-1447
-
-
Andreu, A.L.1
Bruno, C.2
Shanske, S.3
Shtilbans, A.4
Hirano, M.5
Krishna, S.6
Hayward, L.7
-
54
-
-
0032929367
-
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
-
Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S et al. (1999) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol 45:127-130
-
(1999)
Ann Neurol
, vol.45
, pp. 127-130
-
-
Andreu, A.L.1
Bruno, C.2
Dunne, T.C.3
Tanji, K.4
Shanske, S.5
Sue, C.M.6
Krishna, S.7
-
55
-
-
0011877594
-
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined defect of complexes I and III
-
in press
-
Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M (2001) A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined defect of complexes I and III. Neuromuscl Disord (in press)
-
(2001)
Neuromuscl Disord
-
-
Lamantea, E.1
Carrara, F.2
Mariotti, C.3
Morandi, L.4
Tiranti, V.5
Zeviani, M.6
-
56
-
-
0001411977
-
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy
-
Rahman S, Taanman J-W, Cooper M, Nelson I, Hargreaves I, Meunier B, Hanna MG et al. (1999) A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am J Hum Genet 65:1030-1039
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1030-1039
-
-
Rahman, S.1
Taanman, J.-W.2
Cooper, M.3
Nelson, I.4
Hargreaves, I.5
Meunier, B.6
Hanna, M.G.7
-
57
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 326-328
-
(1997)
Biochem Biophys Res Commun
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
Shanske, S.4
Vilarinho, L.5
Hays, A.P.6
DiMauro, S.7
-
58
-
-
0034955881
-
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
-
Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM (2001) Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 50:104-107
-
(2001)
Ann Neurol
, vol.50
, pp. 104-107
-
-
Taylor, R.W.1
Singh-Kler, R.2
Hayes, C.M.3
Smith, P.E.M.4
Turnbull, D.M.5
-
59
-
-
0031577531
-
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
-
Campos Y, Martin MA, Rubio JC, Gutierrez del Olmo MC, Cabello A, Arenas J (1997) Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem Biophys Res Commun 238:323-325
-
(1997)
Biochem Biophys Res Commun
, vol.238
, pp. 323-325
-
-
Campos, Y.1
Martin, M.A.2
Rubio, J.C.3
Gutierrez del Olmo, M.C.4
Cabello, A.5
Arenas, J.6
-
60
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydro-genase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydro-genase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 91:6206-6210
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
61
-
-
0032899012
-
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome
-
De Coo IFM, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schagger H, Van Oost BA et al. (1999) A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome. Ann Neurol 45:130-133
-
(1999)
Ann Neurol
, vol.45
, pp. 130-133
-
-
De Coo, I.F.M.1
Renier, W.O.2
Ruitenbeek, W.3
Ter Laak, H.J.4
Bakker, M.5
Schagger, H.6
Van Oost, B.A.7
-
62
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
-
Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S et al. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet 65:611-620
-
(1999)
Am J Hum Genet
, vol.65
, pp. 611-620
-
-
Bruno, C.1
Martinuzzi, A.2
Tang, Y.3
Andreu, A.L.4
Pallotti, F.5
Bonilla, E.6
Shanske, S.7
-
63
-
-
0033362085
-
A mtDNA mutation in the initiation codon of the cytochrome c oxidase subunit II results in lower levels of the protein and a mitochondrial encephalomyopathy
-
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers Z, Andrews RM, Nelson IP et al. (1999) A mtDNA mutation in the initiation codon of the cytochrome c oxidase subunit II results in lower levels of the protein and a mitochondrial encephalomyopathy. Am J Hum Genet 64:1330-1339
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1330-1339
-
-
Clark, K.M.1
Taylor, R.W.2
Johnson, M.A.3
Chinnery, P.F.4
Chrzanowska-Lightowlers, Z.5
Andrews, R.M.6
Nelson, I.P.7
-
64
-
-
0032231458
-
Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA
-
Hanna MG, Nelson IP, Rahman S, Lane RJM, Land J, Heales S, Cooper MJ et al. (1998) Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 63:29-36
-
(1998)
Am J Hum Genet
, vol.63
, pp. 29-36
-
-
Hanna, M.G.1
Nelson, I.P.2
Rahman, S.3
Lane, R.J.M.4
Land, J.5
Heales, S.6
Cooper, M.J.7
-
65
-
-
0029122341
-
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
-
Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo DC, DiMauro S (1995) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 38:468-472
-
(1995)
Ann Neurol
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
Shanske, S.2
Vazquez-Memije, M.3
De Vivo, D.C.4
DiMauro, S.5
-
66
-
-
0002629236
-
-
Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. Butterworth-Heinemann, Boston
-
DiMauro S, Bonilla E (1997) Mitochondrial Encephalomyopathies (Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds) pp. 201-235. Butterworth-Heinemann, Boston
-
(1997)
Mitochondrial Encephalomyopathies
, pp. 201-235
-
-
DiMauro, S.1
Bonilla, E.2
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