-
1
-
-
0028952052
-
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients
-
Jackson MJ, Schaefer JA, Johnson MA, Morris AAM, Turnbull DM, Birrdoff LA. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain 1995; 118: 339-57.
-
(1995)
Brain
, vol.118
, pp. 339-357
-
-
Jackson, M.J.1
Schaefer, J.A.2
Johnson, M.A.3
Morris, A.A.M.4
Turnbull, D.M.5
Birrdoff, L.A.6
-
2
-
-
85047697283
-
Mitochondrial dysfunction and neuromuscular disease
-
Nardin RA, Johns DR. Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve 2001; 24: 170-91.
-
(2001)
Muscle Nerve
, vol.24
, pp. 170-191
-
-
Nardin, R.A.1
Johns, D.R.2
-
3
-
-
0015309883
-
Oculocraneosomatic neuromuscular disease with ragged-red fibers
-
Cesen W, Engel WK, Walsh GO, Einangler R. Oculocraneosomatic neuromuscular disease with ragged-red fibers. Arch Neurol 1972; 26: 193-211.
-
(1972)
Arch Neurol
, vol.26
, pp. 193-211
-
-
Cesen, W.1
Engel, W.K.2
Walsh, G.O.3
Einangler, R.4
-
4
-
-
0017588990
-
A mitochondrial myopathy characterized by a deficiency in reductible cytochrome b
-
Morgan-Hughes JA, Darveniza P, Kahn SN, Landon DN, Sherratt RM, Land JM, et al. A mitochondrial myopathy characterized by a deficiency in reductible cytochrome b. Brain 1977; 100: 617-40.
-
(1977)
Brain
, vol.100
, pp. 617-640
-
-
Morgan-Hughes, J.A.1
Darveniza, P.2
Kahn, S.N.3
Landon, D.N.4
Sherratt, R.M.5
Land, J.M.6
-
5
-
-
0023429777
-
Cytochrome c oxidase deficiency in Leigh syndrome
-
DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987; 22: 498-506.
-
(1987)
Ann Neurol
, vol.22
, pp. 498-506
-
-
DiMauro, S.1
Servidei, S.2
Zeviani, M.3
DiRocco, M.4
DeVivo, D.C.5
DiDonato, S.6
-
6
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt lJ, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46: 428-33.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 428-433
-
-
lJ, H.1
Harding, A.E.2
Petty, R.K.H.3
Morgan-Hughes, J.A.4
-
7
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427-30.
-
(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.M.6
-
8
-
-
0025666322
-
A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
9
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001; 106: 94-101.
-
(2001)
Am J Med Genet
, vol.106
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
10
-
-
0027388963
-
Cytocrome C oxidase activity in single muscle fibers: Assay techniques and diagnostic applications
-
Johnson MA, Bindoff LA, Turnbull DM. Cytocrome C oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Ann Neurol 1993; 33: 28-35.
-
(1993)
Ann Neurol
, vol.33
, pp. 28-35
-
-
Johnson, M.A.1
Bindoff, L.A.2
Turnbull, D.M.3
-
12
-
-
0029763025
-
Respiratory chain encephalomyopathies: A diagnostic classification
-
Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol 1996; 36: 260-7.
-
(1996)
Eur Neurol
, vol.36
, pp. 260-267
-
-
Walker, U.A.1
Collins, S.2
Byrne, E.3
-
13
-
-
0036239058
-
Laboratory diagnosis of metabolic myopathies
-
Vladutin GD. Laboratory diagnosis of metabolic myopathies. Muscle Nerve 2002; 25: 649-63.
-
(2002)
Muscle Nerve
, vol.25
, pp. 649-663
-
-
Vladutin, G.D.1
-
15
-
-
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, et al. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 1998; 51: 1444-47.
-
(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
-
16
-
-
0033659683
-
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
-
Keightley JA, Anitory R, Burton MD, Quan F, Buist NR, Kennaway NG. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 2000; 67: 1400-10.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1400-1410
-
-
Keightley, J.A.1
Anitory, R.2
Burton, M.D.3
Quan, F.4
Buist, N.R.5
Kennaway, N.G.6
-
17
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
-
Paulakis SG, Phillips PC, Di Mauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-8.
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Paulakis, S.G.1
Phillips, P.C.2
Di Mauro, S.3
De Vivo, D.C.4
Rowland, L.P.5
-
18
-
-
0030715313
-
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation
-
Sue CM, Mitchell P, Crimms DS, Moschegov C, Byrne E, Morris JGL. Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation. Neurology 1997; 49: 1013-7.
-
(1997)
Neurology
, vol.49
, pp. 1013-1017
-
-
Sue, C.M.1
Mitchell, P.2
Crimms, D.S.3
Moschegov, C.4
Byrne, E.5
Morris, J.G.L.6
-
19
-
-
1542328875
-
The diagnosis of mitochondrial muscle disease
-
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 2004; 14: 237-45.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 237-245
-
-
Taylor, R.W.1
Schaefer, A.M.2
Barron, M.J.3
McFarland, R.4
Turnbull, D.M.5
-
20
-
-
0025873627
-
Clinical syndromes associated with ragged-red fibers
-
Rowland LP, Blake DM, Hirano M, Di Mauro S, Schon EA, Hays AP, et al. Clinical syndromes associated with ragged-red fibers. Rev Neurol (Paris) 1991; 147: 467-73.
-
(1991)
Rev Neurol (Paris)
, vol.147
, pp. 467-473
-
-
Rowland, L.P.1
Blake, D.M.2
Hirano, M.3
Di Mauro, S.4
Schon, E.A.5
Hays, A.P.6
-
21
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
Di Mauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993; 50: 1197-208.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
Di Mauro, S.1
Moraes, C.T.2
-
22
-
-
0242298796
-
-
Ricoy-Campo JR, Cabello A. Mitocondriopatías. Rev Neurol 2003; 37: 775-9.
-
Ricoy-Campo JR, Cabello A. Mitocondriopatías. Rev Neurol 2003; 37: 775-9.
-
-
-
-
23
-
-
0029072327
-
Clinical features of MELAS and mitochondrial DNA mutations
-
Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve (Suppl 3) 1995; S107-12.
-
(1995)
Muscle Nerve
, Issue.SUPPL. 3
-
-
Goto, Y.1
-
24
-
-
0020067001
-
Electrophysiological findings including single fiber EMG in a family with mitochondrial myopathy
-
Fawcett PRW, Mastaglia FL, Mechler F. Electrophysiological findings including single fiber EMG in a family with mitochondrial myopathy. J Neurol Sci 1982; 53: 397-410.
-
(1982)
J Neurol Sci
, vol.53
, pp. 397-410
-
-
Fawcett, P.R.W.1
Mastaglia, F.L.2
Mechler, F.3
-
25
-
-
0023150575
-
Single fiber electromyography in chronic progressive external ophtalmoplegia
-
Krendel DA, Sanders DB, Massey JM. Single fiber electromyography in chronic progressive external ophtalmoplegia. Muscle Nerve 1987; 10: 299-302.
-
(1987)
Muscle Nerve
, vol.10
, pp. 299-302
-
-
Krendel, D.A.1
Sanders, D.B.2
Massey, J.M.3
-
26
-
-
0015789658
-
Microphysiology of vertebrate neuromuscular transmission
-
Hubbard JL. Microphysiology of vertebrate neuromuscular transmission. Physiol Rev 1973; 53: 674-723.
-
(1973)
Physiol Rev
, vol.53
, pp. 674-723
-
-
Hubbard, J.L.1
-
27
-
-
0023003310
-
The clinical features of mitochondrial myopathy
-
Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986; 109: 915-38.
-
(1986)
Brain
, vol.109
, pp. 915-938
-
-
Petty, R.K.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
28
-
-
0032477340
-
Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
-
Campos Y, Martín MA, García-Silva T, Del Hoyo P, Rubio JC, Castro-Gago M, et al. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromuscul Disord 1998; 8: 568-73.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 568-573
-
-
Campos, Y.1
Martín, M.A.2
García-Silva, T.3
Del Hoyo, P.4
Rubio, J.C.5
Castro-Gago, M.6
-
29
-
-
0034795802
-
Mutations in mitochondrial DNA as a cause of exercise intolerance
-
DiMauro S, Andreu AL. Mutations in mitochondrial DNA as a cause of exercise intolerance. Ann Med 2001; 33: 472-6.
-
(2001)
Ann Med
, vol.33
, pp. 472-476
-
-
DiMauro, S.1
Andreu, A.L.2
-
30
-
-
0027288551
-
Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies
-
Nagel T, Tichiya Y, Taguchi Y, Sakuta R, Ichiki Y, Nonaka L. Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies. Pedriatr Neurol 1993; 9: 151-4.
-
(1993)
Pedriatr Neurol
, vol.9
, pp. 151-154
-
-
Nagel, T.1
Tichiya, Y.2
Taguchi, Y.3
Sakuta, R.4
Ichiki, Y.5
Nonaka, L.6
-
31
-
-
0024420201
-
Myoclonus epilepsy and ragged-red fibres (MERRF). 1: A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
-
Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 1: A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989; 112: 1231-60.
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, S.F.1
Carpenter, S.2
Evans, A.3
Karpati, G.4
Shoubridge, E.A.5
Andermann, F.6
-
32
-
-
0032753146
-
Does the patient have a mitochondrial encephalomyopathy?
-
DiMauro S, Bonilla E, De Vivo DC. Does the patient have a mitochondrial encephalomyopathy? J Child Neurol; 14 (Suppl 1) 1999: S23-35.
-
(1999)
J Child Neurol
, vol.14
, Issue.SUPPL. 1
-
-
DiMauro, S.1
Bonilla, E.2
De Vivo, D.C.3
-
33
-
-
0034241059
-
-
Castro-Gago M, Novo-Rodríguez MI, Pintos-Martínez E, Campos Y, Arenas J, Eirís-Puñal J. Encefalopatías mitocondriales. Rev Neurol 2000; 31: 263-82.
-
Castro-Gago M, Novo-Rodríguez MI, Pintos-Martínez E, Campos Y, Arenas J, Eirís-Puñal J. Encefalopatías mitocondriales. Rev Neurol 2000; 31: 263-82.
-
-
-
-
34
-
-
0025905698
-
Mitochondrial encephalomyopathies: Molecular genetic diagnosis from blood samples
-
Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE. Mitochondrial encephalomyopathies: molecular genetic diagnosis from blood samples. Lancet 1991; 337: 1311-3.
-
(1991)
Lancet
, vol.337
, pp. 1311-1313
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Morgan-Hughes, J.A.4
Harding, A.E.5
-
36
-
-
0028070835
-
Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF
-
Calabresi PA, Silvestri G, DiMauro S, Griggs RC. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve 1994; 17: 943-5.
-
(1994)
Muscle Nerve
, vol.17
, pp. 943-945
-
-
Calabresi, P.A.1
Silvestri, G.2
DiMauro, S.3
Griggs, R.C.4
-
37
-
-
0025648465
-
Nerve-muscle involvement in a large family with mitochondrial cytopathy: Electrophysiological studies
-
Torbergsen T, Stålberg E, Bless JK. Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies. Muscle Nerve 1991; 14: 35-41.
-
(1991)
Muscle Nerve
, vol.14
, pp. 35-41
-
-
Torbergsen, T.1
Stålberg, E.2
Bless, J.K.3
-
39
-
-
0006323453
-
Demyelinating neuropathy as a feature of mitochondrial encephalomyopathy
-
Teener JW, Sludky JT. Demyelinating neuropathy as a feature of mitochondrial encephalomyopathy. Ann Neurol 1994; 34: 508-9.
-
(1994)
Ann Neurol
, vol.34
, pp. 508-509
-
-
Teener, J.W.1
Sludky, J.T.2
-
40
-
-
0027220826
-
EEG and evoked potentials findings in mitochondrial myopathies
-
Smith SJ, Harding AE. EEG and evoked potentials findings in mitochondrial myopathies. J Neurol 1993; 240: 367-72.
-
(1993)
J Neurol
, vol.240
, pp. 367-372
-
-
Smith, S.J.1
Harding, A.E.2
-
41
-
-
17744383576
-
Encefalomiopatías mitocondriales y síndrome de West: Una asociación frecuentemente infradiagnosticada
-
Blanco-Barca O, Pintos-Martínez E, Alonso-Martín A, Escribano-Rey MD, Campos-González Y, Arenas-Barbero J, et al. Encefalomiopatías mitocondriales y síndrome de West: una asociación frecuentemente infradiagnosticada. Rev Neurol 2004; 39: 618-23.
-
(2004)
Rev Neurol
, vol.39
, pp. 618-623
-
-
Blanco-Barca, O.1
Pintos-Martínez, E.2
Alonso-Martín, A.3
Escribano-Rey, M.D.4
Campos-González, Y.5
Arenas-Barbero, J.6
-
42
-
-
0023870035
-
Leigh disease (subacute necrotizing encephalomyopathy): CT and MR in five cases
-
Geyer CA, Sartor KJ, Prensky AJ, Abramson CL, Hodges FJ, Gado MH. Leigh disease (subacute necrotizing encephalomyopathy): CT and MR in five cases. J Comput Tomogr 1988; 12: 40-4.
-
(1988)
J Comput Tomogr
, vol.12
, pp. 40-44
-
-
Geyer, C.A.1
Sartor, K.J.2
Prensky, A.J.3
Abramson, C.L.4
Hodges, F.J.5
Gado, M.H.6
-
43
-
-
22144470443
-
Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial
-
Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, Del Toro-Riera M, Cabezuelo-Briones A, et al. Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial. Rev Neurol 2004; 39: 1129-32.
-
(2004)
Rev Neurol
, vol.39
, pp. 1129-1132
-
-
Raspall-Chaure, M.1
Solano, A.2
Vázquez, E.3
Macaya-Ruiz, A.4
Del Toro-Riera, M.5
Cabezuelo-Briones, A.6
-
44
-
-
0032471372
-
Neuroradiologic findings in children with mitochondrial disorders
-
Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 1998; 19: 369-77.
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, pp. 369-377
-
-
Valanne, L.1
Ketonen, L.2
Majander, A.3
Suomalainen, A.4
Pihko, H.5
-
45
-
-
0025673968
-
Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: An age-related alteration
-
Muller-Hocker J. Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. J Neurol Sci 1990; 100: 14-21.
-
(1990)
J Neurol Sci
, vol.100
, pp. 14-21
-
-
Muller-Hocker, J.1
-
46
-
-
0028936222
-
Ragged-red fibers in normal ageing and inflammatory myopathy
-
Rifai Z, Welle S, Kamp C, Thornton CA. Ragged-red fibers in normal ageing and inflammatory myopathy. Ann Neurol 1995; 37: 24-9.
-
(1995)
Ann Neurol
, vol.37
, pp. 24-29
-
-
Rifai, Z.1
Welle, S.2
Kamp, C.3
Thornton, C.A.4
-
47
-
-
2342471811
-
Mitochondrial encephalomyopathies: Diagnostic approach
-
DiMauro S, Tay S, Mancuso M. Mitochondrial encephalomyopathies: diagnostic approach. Ann N Y Acad Sci 2004; 1011: 217-31.
-
(2004)
Ann N Y Acad Sci
, vol.1011
, pp. 217-231
-
-
DiMauro, S.1
Tay, S.2
Mancuso, M.3
-
48
-
-
3843115466
-
Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial
-
Pineda M, Playan-Ariso A, Alcaine-Villarroya MJ, Vernet AM, Serra-Castanera A, Solano A, et al. Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial. Rev Neurol 2004; 38: 1023-7.
-
(2004)
Rev Neurol
, vol.38
, pp. 1023-1027
-
-
Pineda, M.1
Playan-Ariso, A.2
Alcaine-Villarroya, M.J.3
Vernet, A.M.4
Serra-Castanera, A.5
Solano, A.6
-
49
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: Prevalence of the mutation in an adult population
-
Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Karppa M, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998; 63: 447-54.
-
(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
-
50
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the north east of England
-
Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the north east of England. Am J Hum Genet 2003; 72: 333-9.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 333-339
-
-
Man, P.Y.1
Griffiths, P.G.2
Brown, D.T.3
Howell, N.4
Turnbull, D.M.5
Chinnery, P.F.6
|