-
1
-
-
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, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S (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
Hadjigeorgiou, G.M.8
Shtilbans, A.9
Bonilla, E.10
DiMauro, S.11
-
2
-
-
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, Systrom DS, Brown RH, DiMauro S (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
Systrom, D.S.8
Brown, R.H.9
DiMauro, S.10
-
3
-
-
0033888963
-
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
-
in press
-
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 (in press)
-
(2000)
Pediatr Res
-
-
Andreu, A.L.1
Checcarelli, N.2
Iwata, S.3
Shanske, S.4
DiMauro, S.5
-
4
-
-
0033619147
-
Eixercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu AL, Hanna M G, Reichmann H, Bruno C, Penn A S, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes JA, DiMauro S (1999) Eixercise 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
Iwata, S.8
Bonilla, E.9
Lach, B.10
Morgan-Hughes, J.A.11
DiMauro, S.12
-
5
-
-
0033013692
-
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
-
Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue C M, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S (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
Shanske, S.8
Bonilla, E.9
DiMauro, S.10
-
6
-
-
0025013774
-
A case of mitochondrial myopathy, lactic acidosis and complex I deficiency
-
Bet L, Bresolin N, Moggio M, Meola G, Prelle A, Schapira AH, Binzoni T, Chomyn A, Fortunate F, Cerretelli P, Scarlato G (1990) A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. J Neurol 237: 399-404
-
(1990)
J Neurol
, vol.237
, pp. 399-404
-
-
Bet, L.1
Bresolin, N.2
Moggio, M.3
Meola, G.4
Prelle, A.5
Schapira, A.H.6
Binzoni, T.7
Chomyn, A.8
Fortunate, F.9
Cerretelli, P.10
Scarlato, G.11
-
7
-
-
0027282274
-
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA
-
Bindoff LA, Howell N, Poulton J, McCullogh DA, Morten KJ, Lightowlers RN, Turnbull DM, Webert K (1993) Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. J Biol Chem 268: 19559-19564
-
(1993)
J Biol Chem
, vol.268
, pp. 19559-19564
-
-
Bindoff, L.A.1
Howell, N.2
Poulton, J.3
McCullogh, D.A.4
Morten, K.J.5
Lightowlers, R.N.6
Turnbull, D.M.7
Webert, K.8
-
8
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome c oxidase 1 gene disrupts the functional structure of complex IV
-
Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase 1 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
Fu, J.8
Sue, C.M.9
Angelini, C.10
DiMauro, S.11
Manfredi, G.12
-
9
-
-
0031577531
-
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
-
in press
-
Campos Y, Martin M A, Rubio JC, Gutierrez del Olmo M, Cabello A, Arenas J (1997) Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem Biophys Res Comm in press:
-
(1997)
Biochem Biophys Res Comm
-
-
Campos, Y.1
Martin, M.A.2
Rubio, J.C.3
Gutierrez Del Olmo, M.4
Cabello, A.5
Arenas, J.6
-
10
-
-
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
-
11
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
in press
-
Chinnery PF, Wardell TM, Singh-Kler R, Hayes C, Johnson MA, Taylor RW, Bindoff LA, Turnbull DM (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol (in press)
-
(2000)
Ann Neurol
-
-
Chinnery, P.F.1
Wardell, T.M.2
Singh-Kler, R.3
Hayes, C.4
Johnson, M.A.5
Taylor, R.W.6
Bindoff, L.A.7
Turnbull, D.M.8
-
12
-
-
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, Wood NW, Lament PJ, Hanna MG, Lightowlers RN, Turnbull DM (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
Wood, N.W.8
Lament, P.J.9
Hanna, M.G.10
Lightowlers, R.N.11
Turnbull, D.M.12
-
13
-
-
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, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman J-W, Scarlato G (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
Zeviani, M.8
Napoli, L.9
Bresolin, N.10
Moggio, M.11
Ausenda, C.D.12
Taanman, J.-W.13
Scarlato, G.14
-
14
-
-
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, Smeets HJM (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
Smeets, H.J.M.8
-
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
-
-
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
-
17
-
-
0002629236
-
Mitochondrial encephalomyopathies
-
R. N. Rosenberg, S. B. Prusiner, S. DiMauro and R. L. Barchi (eds), 2nd. Butterworth-Heinemann, Boston
-
DiMauro S, Bonilla E. (1997). Mitochondrial encephalomyopathies. In: The Molecular and Genetic Basis of Neurological Disease, R. N. Rosenberg, S. B. Prusiner, S. DiMauro and R. L. Barchi (eds), 2nd. pp 201-235, Butterworth-Heinemann, Boston.
-
(1997)
The Molecular and Genetic Basis of Neurological Disease
, pp. 201-235
-
-
DiMauro, S.1
Bonilla, E.2
-
18
-
-
0031749161
-
Mitochondria and heart disease
-
DiMauro S, Hirano M (1998) Mitochondria and heart disease. Curr Opin Cardiol 13:190-197
-
(1998)
Curr Opin Cardiol
, vol.13
, pp. 190-197
-
-
DiMauro, S.1
Hirano, M.2
-
19
-
-
0031814491
-
Mitochondrial DNA and diseases of the nervous system: The spectrum
-
DiMauro S, Schon E A (1998) Mitochondrial DNA and diseases of the nervous system: The spectrum. The Neuroscientist 4: 53-63
-
(1998)
The Neuroscientist
, vol.4
, pp. 53-63
-
-
DiMauro, S.1
Schon, E.A.2
-
20
-
-
0033950567
-
Oxidative phosphorylation defect in the brains of carriers of the tRNAIeu (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 tRNAIeu (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
-
21
-
-
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
-
22
-
-
0001698695
-
Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections
-
Engel AG, Cunnigham CG (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, A.G.1
Cunnigham, C.G.2
-
23
-
-
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
-
24
-
-
0026664015
-
A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy
-
Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I (1992) A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 31: 672-675
-
(1992)
Ann Neurol
, vol.31
, pp. 672-675
-
-
Goto, Y.1
Tojo, M.2
Tohyama, J.3
Horai, S.4
Nonaka, I.5
-
25
-
-
0033120859
-
Leu(UUR) gene associated with familial myopathy
-
Leu(UUR) gene associated with familial myopathy. J Neurol Sci 164: 153-157
-
(1999)
J Neurol Sci
, vol.164
, pp. 153-157
-
-
Hadjigeorgiou, G.M.1
Kim, S.H.2
Fischbeck, K.H.3
Andreu, A.L.4
Berry, G.T.5
Bingham, P.6
Shanske, S.7
Bonilla, E.8
DiMauro, S.9
-
26
-
-
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, Schapira AHV, Morgan-Hughes JA, Wood NW (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
Schapira, A.H.V.8
Morgan-Hughes, J.A.9
Wood, N.W.10
-
27
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan Hughes, J.A.3
-
29
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus 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
-
30
-
-
0029997198
-
Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
-
Ivanov PL, Wadhams MJ, Roby RK, Holland MM, Weedn VW, Parsons TJ (1996) Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nature Genet 12: 417-420
-
(1996)
Nature Genet
, vol.12
, pp. 417-420
-
-
Ivanov, P.L.1
Wadhams, M.J.2
Roby, R.K.3
Holland, M.M.4
Weedn, V.W.5
Parsons, T.J.6
-
31
-
-
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 Comm 187: 1551-1557
-
(1992)
Biochem Biophys Res Comm
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
32
-
-
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 (1994) 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 Nat Acad Sci USA 91: 6206-6210
-
(1994)
Proc Nat Acad Sci USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
33
-
-
0033811149
-
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA
-
in press
-
Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S (2000) Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA. Neurology (in press)
-
(2000)
Neurology
-
-
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
Davidson, M.M.8
Shanske, S.9
Bonilla, E.10
DiMauro, S.11
-
34
-
-
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, Kennaway NG (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nature Genet 12:410-415
-
(1996)
Nature 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
Kennaway, N.G.8
-
35
-
-
0002345378
-
Mitochondrial encephalomyopathy associated with a nonsense mutation in cytochrome b
-
Kennaway NG, Keightley JA, Burton MD, Quan F, Libby B D, Buist NRM (1998) Mitochondrial encephalomyopathy associated with a nonsense mutation in cytochrome b. Mol Genet Metab 63: 49
-
(1998)
Mol Genet Metab
, vol.63
, pp. 49
-
-
Kennaway, N.G.1
Keightley, J.A.2
Burton, M.D.3
Quan, F.4
Libby, B.D.5
Buist, N.R.M.6
-
36
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King MR 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.R.1
Attardi, G.2
-
37
-
-
0032499622
-
A novel mitochondrial tRNAPhe mutation inhibiting anticodon stem formation associated with a muscle disease
-
Kleinle S, Schneider V, Moosmann P, Brandner S, Krahenbuhl S, Liechti-Gallati S (1998) A novel mitochondrial tRNAPhe mutation inhibiting anticodon stem formation associated with a muscle disease. Biochem Biophys Res Comm 247: 112-115
-
(1998)
Biochem Biophys Res Comm
, vol.247
, pp. 112-115
-
-
Kleinle, S.1
Schneider, V.2
Moosmann, P.3
Brandner, S.4
Krahenbuhl, S.5
Liechti-Gallati, S.6
-
38
-
-
0024365289
-
Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination
-
Kruse B, Narasimhan N, Attardi G (1989) Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination. Cell 58: 391-397
-
(1989)
Cell
, vol.58
, pp. 391-397
-
-
Kruse, B.1
Narasimhan, N.2
Attardi, G.3
-
39
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
-
Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Karppa M, Majamaa-Voltti KAM, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE (1998) Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am J Hum Genet 63: 447-454
-
(1998)
Am J Hum Genet
, vol.63
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
Remes, A.M.4
Salmela, P.I.5
Karppa, M.6
Majamaa-Voltti, K.A.M.7
Rusanen, H.8
Sorri, M.9
Peuhkurinen, K.J.10
Hassinen, I.E.11
-
40
-
-
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
-
41
-
-
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, Sladky JT, DiMauro S (1995) A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromusc Disord 5: 391-398
-
(1995)
Neuromusc Disord
, vol.5
, pp. 391-398
-
-
Manfredi, G.1
Schon, E.A.2
Moraes, C.T.3
Bonilla, E.4
Berry, G.T.5
Sladky, J.T.6
DiMauro, S.7
-
42
-
-
0027161003
-
A mitochondrial tRNA anticodon swap associated with a muscle disease
-
Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease. Nature Genet 4: 284-288
-
(1993)
Nature Genet
, vol.4
, pp. 284-288
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Ionasescu, V.4
Schon, E.A.5
DiMauro, S.6
-
43
-
-
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 A J, Brownnel A, Schmidt B, Schotland DL, Zupanc M, DeVivo DC, Schon EA, Rowland LP (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320: 1293-1299
-
(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
Brownnel, A.14
Schmidt, B.15
Schotland, D.L.16
Zupanc, M.17
DeVivo, D.C.18
Schon, E.A.19
Rowland, L.P.20
more..
-
44
-
-
0029872652
-
Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
-
Moraes CT, Schon EA (1996) Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Meth Enzymol 264: 522-540
-
(1996)
Meth Enzymol
, vol.264
, pp. 522-540
-
-
Moraes, C.T.1
Schon, E.A.2
-
45
-
-
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 G P, Rothstein R, Schon EA, DiMauro S (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
DiMauro, S.8
-
46
-
-
78651128209
-
Intramitochondrial fibers with DNA characteristics
-
Nass S, Nass M (1963) Intramitochondrial fibers with DNA characteristics. J Cell Biol 19: 593-629
-
(1963)
J Cell Biol
, vol.19
, pp. 593-629
-
-
Nass, S.1
Nass, M.2
-
47
-
-
0030730874
-
Mitochondrial myopathy with tRNALeu(UUR) mutation complex I deficiency responsive to riboflavin
-
Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl H-HM, Thorburn DR (1997) Mitochondrial myopathy with tRNALeu(UUR) mutation complex I deficiency responsive to riboflavin. J Pediatr 130:138-145
-
(1997)
J Pediatr
, vol.130
, pp. 138-145
-
-
Ogle, R.F.1
Christodoulou, J.2
Fagan, E.3
Blok, R.B.4
Kirby, D.M.5
Seller, K.L.6
Dahl, H.-H.M.7
Thorburn, D.R.8
-
48
-
-
0021186586
-
Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
-
Papadimitriou A, Neustein HB, DiMauro S, Stanton R, Bresolin N (1984) Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res 18: 1023-1028
-
(1984)
Pediatr Res
, vol.18
, pp. 1023-1028
-
-
Papadimitriou, A.1
Neustein, H.B.2
DiMauro, S.3
Stanton, R.4
Bresolin, N.5
-
49
-
-
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
-
50
-
-
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 M G, Garcia JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AHV (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
Garcia, J.J.8
Capaldi, R.A.9
Lake, B.D.10
Leonard, J.V.11
Schapira, A.H.V.12
-
51
-
-
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 Comm 238: 326-328
-
(1997)
Biochem Biophys Res Comm
, 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
-
53
-
-
0031925719
-
A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene
-
Silvestri G, Rana M, DiMuzio A, Uncini A, Tonali P, Servidei S (1998) A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene. Neuromusc Disord 8: 291-295
-
(1998)
Neuromusc Disord
, vol.8
, pp. 291-295
-
-
Silvestri, G.1
Rana, M.2
DiMuzio, A.3
Uncini, A.4
Tonali, P.5
Servidei, S.6
-
54
-
-
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 mitochondrial 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
-
55
-
-
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 J, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH (1992) Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50: 852-858
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
Clarke, J.4
Wherret, J.5
Smith, C.6
Rudd, N.7
Petrova-Benedict, R.8
Robinson, B.H.9
-
57
-
-
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
-
58
-
-
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, Rustin P, Rotig A (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
Rustin, P.8
Rotig, A.9
-
59
-
-
0031801084
-
A new mitochondrial tRNAMet gene mutation in a patient with dystrophic muscle and exercise intolerance
-
Vissing J, Salamon M B, Arlien-Soborg P, Norby S, Manta P, DiMauro S, Schmalbruch H (1998) A new mitochondrial tRNAMet gene mutation in a patient with dystrophic muscle and exercise intolerance. Neurology 50: 1875-1878
-
(1998)
Neurology
, vol.50
, pp. 1875-1878
-
-
Vissing, J.1
Salamon, M.B.2
Arlien-Soborg, P.3
Norby, S.4
Manta, P.5
DiMauro, S.6
Schmalbruch, H.7
-
60
-
-
0032833421
-
Mitochondrial DNA variation in human evolution and disease
-
Wallace DC, Brown MD, Lott MT (1999) Mitochondrial DNA variation in human evolution and disease. Gene 238: 211-230
-
(1999)
Gene
, vol.238
, pp. 211-230
-
-
Wallace, D.C.1
Brown, M.D.2
Lott, M.T.3
-
61
-
-
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, Nikoskelainen EK (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
Nikoskelainen, E.K.8
-
62
-
-
0031020420
-
A new mtDNA mutation showing accumulation with lime and restriction to skeletal muscle
-
Weber K, Wilson JN, Taylor L, Brierly E, Johnson MA, Turnbull DM, Bindoff LA (1997) A new mtDNA mutation showing accumulation with lime and restriction to skeletal muscle. Am J Hum Genet 60: 373-380
-
(1997)
Am J Hum Genet
, vol.60
, pp. 373-380
-
-
Weber, K.1
Wilson, J.N.2
Taylor, L.3
Brierly, E.4
Johnson, M.A.5
Turnbull, D.M.6
Bindoff, L.A.7
-
63
-
-
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. Prenatal Diagnosis 19: 1165-1168
-
(1999)
Prenatal Diagnosis
, 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
-
64
-
-
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 M T, DiMauro S, Dahl H-HM, Thorburn DR (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue-or age-related variation. J Inher Metab Dis 22: 899-914
-
(1999)
J Inher 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
Thorburn, D.R.8
-
65
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38: 1339-1346
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
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