-
1
-
-
0034700807
-
Mitochondrial respiratory chain disorders I
-
Leonard J.V., and Schapira A. Mitochondrial respiratory chain disorders I. Lancet 355 (2000) 299-305
-
(2000)
Lancet
, vol.355
, pp. 299-305
-
-
Leonard, J.V.1
Schapira, A.2
-
2
-
-
0034728096
-
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects
-
Leonard J.V., and Schapira A. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 355 (2000) 389-395
-
(2000)
Lancet
, vol.355
, pp. 389-395
-
-
Leonard, J.V.1
Schapira, A.2
-
3
-
-
0027311861
-
The expanding clinical spectrum of mitochondrial diseases
-
De Vivo D.C. The expanding clinical spectrum of mitochondrial diseases. Brain Develop 15 (1993) 1-22
-
(1993)
Brain Develop
, vol.15
, pp. 1-22
-
-
De Vivo, D.C.1
-
4
-
-
0006949363
-
Mitochondrial Disorders
-
Moser H.W. (Ed), Elsevier, Amsterdam
-
De Vivo D.C., Hirano M., and DiMauro S. Mitochondrial Disorders. In: Moser H.W. (Ed). Handbook of Clinical Neurology 22(66): Neurodystrophies and Neurolipidoses. (1996), Elsevier, Amsterdam 389-446
-
(1996)
Handbook of Clinical Neurology 22(66): Neurodystrophies and Neurolipidoses.
, pp. 389-446
-
-
De Vivo, D.C.1
Hirano, M.2
DiMauro, S.3
-
6
-
-
0032044694
-
Mitochondrial encephalomyopathies: gene mutation
-
Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 8 (1998) 18-19
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 18-19
-
-
Servidei, S.1
-
7
-
-
0033525773
-
Mitochondrial diseases in mouse and man
-
Wallace D.C. Mitochondrial diseases in mouse and man. Science 283 (1999) 1482-1488
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
9
-
-
0033040309
-
Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype
-
Morgan-Hughes J.A., and Hanna M.G. Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype. Biochim Biophys Acta 1410 (1999) 125-145
-
(1999)
Biochim Biophys Acta
, vol.1410
, pp. 125-145
-
-
Morgan-Hughes, J.A.1
Hanna, M.G.2
-
11
-
-
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 J.S., Uimonen S., 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 63 (1998) 447-454
-
(1998)
Am J Hum Genet
, vol.63
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
-
12
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
Chinnery P.F., Johnson M.A., Wardell T.M., et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48 (2000) 188-193
-
(2000)
Ann Neurol
, vol.48
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
-
14
-
-
0029914927
-
Maternally inherited diabetes and deafness: a new diabetes subtype
-
Maassen J.A., and Kadowaki T. Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 39 (1996) 375-382
-
(1996)
Diabetologia
, vol.39
, pp. 375-382
-
-
Maassen, J.A.1
Kadowaki, T.2
-
15
-
-
78651126508
-
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control; a correlated clinical, biochemical, and morphological study
-
Luft R., Ikkos D., Palmieri G., et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control; a correlated clinical, biochemical, and morphological study. J Clin Invest 41 (1962) 1776-1804
-
(1962)
J Clin Invest
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
-
16
-
-
0016921885
-
Luft's disease: further biochemical and ultrastructural studies of skeletal muscle in the second case
-
DiMauro S., Bonilla E., Lee C.P., et al. Luft's disease: further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci 27 (1976) 217-232
-
(1976)
J Neurol Sci
, vol.27
, pp. 217-232
-
-
DiMauro, S.1
Bonilla, E.2
Lee, C.P.3
-
17
-
-
0019909046
-
Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain
-
Morgan-Hughes J.A., Hayes D.J., Clark J.B., et al. Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain. Brain 105 (1982) 553-582
-
(1982)
Brain
, vol.105
, pp. 553-582
-
-
Morgan-Hughes, J.A.1
Hayes, D.J.2
Clark, J.B.3
-
18
-
-
0015309883
-
Oculocraniosomatic neuromuscular disease with "ragged-red" fibers; histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia
-
Olson W., Engel W.K., Walsh G.O., et al. Oculocraniosomatic neuromuscular disease with "ragged-red" fibers; histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia. Arch Neurol 26 (1972) 193-211
-
(1972)
Arch Neurol
, vol.26
, pp. 193-211
-
-
Olson, W.1
Engel, W.K.2
Walsh, G.O.3
-
19
-
-
0015876657
-
Atypical muscle mitochondria in oculoskeletal myopathy
-
Morgan-Hughes J.A., and Mair W.G. Atypical muscle mitochondria in oculoskeletal myopathy. Brain 96 (1973) 215-224
-
(1973)
Brain
, vol.96
, pp. 215-224
-
-
Morgan-Hughes, J.A.1
Mair, W.G.2
-
20
-
-
0001698695
-
Rapid examination of muscle tissue; an improved trichrome stain method for fresh-frozen biopsy sections
-
Engel W.K., and Cunningham C.G. Rapid examination of muscle tissue; an improved trichrome stain method for fresh-frozen biopsy sections. Neurology 13 (1963) 919-923
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunningham, C.G.2
-
21
-
-
0017346294
-
Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects of oxidative metabolism
-
Shapira Y., Harel S., and Russell A. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects of oxidative metabolism. Isr J Med Sci 13 (1977) 161-164
-
(1977)
Isr J Med Sci
, vol.13
, pp. 161-164
-
-
Shapira, Y.1
Harel, S.2
Russell, A.3
-
22
-
-
0018885541
-
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature
-
Fukuhara N., Tokiguchi S., Shirakawa K., et al. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 47 (1980) 117-133
-
(1980)
J Neurol Sci
, vol.47
, pp. 117-133
-
-
Fukuhara, N.1
Tokiguchi, S.2
Shirakawa, K.3
-
24
-
-
0029003333
-
Complementation and segregation behaviour of disease causing mitochondrial DNA mutations in cellular model systems
-
Attardi G., Yoneda M., and Chomyn A. Complementation and segregation behaviour of disease causing mitochondrial DNA mutations in cellular model systems. Biochim Biophys Acta 1271 (1995) 241-248
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 241-248
-
-
Attardi, G.1
Yoneda, M.2
Chomyn, A.3
-
25
-
-
0030791665
-
Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotypes
-
Chinnery P.F., Howell N., Lightowlers R.N., et al. Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotypes. Brain 120 (1997) 1713-1721
-
(1997)
Brain
, vol.120
, pp. 1713-1721
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
-
26
-
-
0030771308
-
Genetic counselling and mitochondrial diseases
-
Warner T.T., and Schapira A. Genetic counselling and mitochondrial diseases. Curr Opin Neurol 10 (1997) 408-412
-
(1997)
Curr Opin Neurol
, vol.10
, pp. 408-412
-
-
Warner, T.T.1
Schapira, A.2
-
27
-
-
0033137096
-
Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Cock H.R., Cooper J.M., and Schapira A.H. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. J Neurol Sci 165 (1999) 10-17
-
(1999)
J Neurol Sci
, vol.165
, pp. 10-17
-
-
Cock, H.R.1
Cooper, J.M.2
Schapira, A.H.3
-
28
-
-
0027454928
-
Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects
-
Sparaco M., Bonilla E., DiMauro S., et al. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 52 (1993) 1-10
-
(1993)
J Neuropathol Exp Neurol
, vol.52
, pp. 1-10
-
-
Sparaco, M.1
Bonilla, E.2
DiMauro, S.3
-
29
-
-
0027158055
-
Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients
-
Tanno Y., Yoneda M., Tanaka K., et al. Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients. Neurology 43 (1993) 1198-2000
-
(1993)
Neurology
, vol.43
, pp. 1198-2000
-
-
Tanno, Y.1
Yoneda, M.2
Tanaka, K.3
-
31
-
-
0034676760
-
Increased risk of stroke in patients with the A12308G polymorphism in mitochondria
-
Pulkes T., Sweeney M.G., and Hanna M.G. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Lancet 356 (2000) 2068-2069
-
(2000)
Lancet
, vol.356
, pp. 2068-2069
-
-
Pulkes, T.1
Sweeney, M.G.2
Hanna, M.G.3
-
32
-
-
0031895748
-
A tRNA suppressor mutation in human mitochondria
-
El Meziane A., Lehtinen S.K., Hance N., et al. A tRNA suppressor mutation in human mitochondria. Nat Genet 18 (1998) 350-353
-
(1998)
Nat Genet
, vol.18
, pp. 350-353
-
-
El Meziane, A.1
Lehtinen, S.K.2
Hance, N.3
-
33
-
-
0017338735
-
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?
-
Berenberg R.A., Pellock J.M., DiMauro S., et al. Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?. Ann Neurol 1 (1977) 37-54
-
(1977)
Ann Neurol
, vol.1
, pp. 37-54
-
-
Berenberg, R.A.1
Pellock, J.M.2
DiMauro, S.3
-
34
-
-
0018752988
-
Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia, and pigmentary retinopathy). Report of 2 cases and review of 17 published cases
-
Roberts N.K., Perloff J.K., and Kark R.A. Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia, and pigmentary retinopathy). Report of 2 cases and review of 17 published cases. Am J Cardiol 44 (1979) 1396-1400
-
(1979)
Am J Cardiol
, vol.44
, pp. 1396-1400
-
-
Roberts, N.K.1
Perloff, J.K.2
Kark, R.A.3
-
35
-
-
0023003310
-
The clinical features of mitochondrial myopathy
-
Petty R.K., Harding A.E., and Morgan-Hughes J.A. The clinical features of mitochondrial myopathy. Brain 109 (1986) 915-938
-
(1986)
Brain
, vol.109
, pp. 915-938
-
-
Petty, R.K.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
36
-
-
0025873627
-
Clinical syndromes associated with ragged red fibres
-
Rowland L.P., Blake D.M., Hirano M., et al. Clinical syndromes associated with ragged red fibres. Rev Neurol 147 (1991) 467-473
-
(1991)
Rev Neurol
, vol.147
, pp. 467-473
-
-
Rowland, L.P.1
Blake, D.M.2
Hirano, M.3
-
37
-
-
0025905698
-
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples
-
Hammans S.R., Sweeney M.G., Brockington M., et al. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 337 (1991) 1311-1313
-
(1991)
Lancet
, vol.337
, pp. 1311-1313
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
39
-
-
0026585685
-
Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia
-
Quade A., Zierz S., and Klingmuller D. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin Invest 70 (1992) 396-402
-
(1992)
Clin Invest
, vol.70
, pp. 396-402
-
-
Quade, A.1
Zierz, S.2
Klingmuller, D.3
-
40
-
-
0026773036
-
Endocrine dysfunction in Kearns-Sayre syndrome
-
Harvey J.N., and Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 37 (1992) 97-103
-
(1992)
Clin Endocrinol
, vol.37
, pp. 97-103
-
-
Harvey, J.N.1
Barnett, D.2
-
41
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt I.J., Harding A.E., and Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331 (1988) 717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
42
-
-
0024798264
-
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
-
Holt I.J., Harding A.E., Cooper J.M., et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol 26 (1989) 699-708
-
(1989)
Ann Neurol
, vol.26
, pp. 699-708
-
-
Holt, I.J.1
Harding, A.E.2
Cooper, J.M.3
-
43
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320 (1989) 1293-1299
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
45
-
-
0026849690
-
Maternal transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
-
Ballinger S.W., Shoffner J.M., Hadaya E.V., et al. Maternal transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1 (1992) 11-15
-
(1992)
Nat Genet
, vol.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hadaya, E.V.3
-
46
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M., Moraes C.T., DiMauro S., et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38 (1998) 1339-1346
-
(1998)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
47
-
-
0029032410
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
-
Mariotti C., Savarese N., Suomalainen A., et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 242 (1995) 304-312
-
(1995)
J Neurol
, vol.242
, pp. 304-312
-
-
Mariotti, C.1
Savarese, N.2
Suomalainen, A.3
-
48
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M., Servidei S., Gellera C., et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339 (1989) 309-311
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
-
49
-
-
0026002054
-
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies
-
Servidei S., Zeviani M., Manfredi G., et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 41 (1991) 1053-1059
-
(1991)
Neurology
, vol.41
, pp. 1053-1059
-
-
Servidei, S.1
Zeviani, M.2
Manfredi, G.3
-
50
-
-
0028833524
-
An autosomal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A., Kaukonen J., Amati P., et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9 (1995) 146-151
-
(1995)
Nat Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.2
Amati, P.3
-
51
-
-
19144363053
-
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
-
Kaukonen J.A., Amati P., Suomalainen A., et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 58 (1996) 763-769
-
(1996)
Am J Hum Genet
, vol.58
, pp. 763-769
-
-
Kaukonen, J.A.1
Amati, P.2
Suomalainen, A.3
-
52
-
-
0025828342
-
Mitochondrial DNA deletions in inherited recurrent myoglobinuria
-
Ohno K., Tanaka M., Sahashi K., et al. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 29 (1991) 364-369
-
(1991)
Ann Neurol
, vol.29
, pp. 364-369
-
-
Ohno, K.1
Tanaka, M.2
Sahashi, K.3
-
53
-
-
0031935230
-
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions
-
Blumenthal D.T., Shanske S., Schochet S.S., et al. Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions. Neurology 50 (1998) 524-525
-
(1998)
Neurology
, vol.50
, pp. 524-525
-
-
Blumenthal, D.T.1
Shanske, S.2
Schochet, S.S.3
-
54
-
-
0027478804
-
Mitochondrial DNA deletions in inclusion body myositis
-
Oldfors A., Larsson N.G., Lindberg C., et al. Mitochondrial DNA deletions in inclusion body myositis. Brain 116 (1993) 325-336
-
(1993)
Brain
, vol.116
, pp. 325-336
-
-
Oldfors, A.1
Larsson, N.G.2
Lindberg, C.3
-
55
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome
-
Pavlakis S.G., Phillips P.C., DiMauro S., et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 16 (1984) 481-488
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
-
56
-
-
0029840031
-
Adult onset MELAS: evidence for involvement of neurones as well as cerebral vasculature in strokelike episodes
-
Gilchrist J.M., Sikirica M., Stopa E., et al. Adult onset MELAS: evidence for involvement of neurones as well as cerebral vasculature in strokelike episodes. Stroke 27 (1996) 1420-1423
-
(1996)
Stroke
, vol.27
, pp. 1420-1423
-
-
Gilchrist, J.M.1
Sikirica, M.2
Stopa, E.3
-
57
-
-
0027280496
-
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): clinical, radiological, pathological, and genetic observations
-
Koo B., Becker L.E., Chuang S., et al. Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol 34 (1993) 25-32
-
(1993)
Ann Neurol
, vol.34
, pp. 25-32
-
-
Koo, B.1
Becker, L.E.2
Chuang, S.3
-
58
-
-
0024433287
-
Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy
-
Yoneda M., Tanaka M., Nishikimi M., et al. Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy. J Neurol Sci 92 (1989) 143-158
-
(1989)
J Neurol Sci
, vol.92
, pp. 143-158
-
-
Yoneda, M.1
Tanaka, M.2
Nishikimi, M.3
-
59
-
-
0027752796
-
MELAS syndrome masquerading as herpes simplex encephalitis
-
Johns D.R., Stein A.G., and Wityk R. MELAS syndrome masquerading as herpes simplex encephalitis. Neurology 43 (1993) 2471-2473
-
(1993)
Neurology
, vol.43
, pp. 2471-2473
-
-
Johns, D.R.1
Stein, A.G.2
Wityk, R.3
-
60
-
-
0033020196
-
Adult-onset MELAS presenting as herpes encephalitis
-
Sharfstein S.R., Gordon M.F., Libman R.B., et al. Adult-onset MELAS presenting as herpes encephalitis. Arch Neurol 56 (1999) 241-243
-
(1999)
Arch Neurol
, vol.56
, pp. 241-243
-
-
Sharfstein, S.R.1
Gordon, M.F.2
Libman, R.B.3
-
61
-
-
0034921209
-
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
-
Briones P., Vilaseca M.A., Cargia-Silva M.T., et al. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. Eur J Paediatr Neurol 5 (2001) 127-131
-
(2001)
Eur J Paediatr Neurol
, vol.5
, pp. 127-131
-
-
Briones, P.1
Vilaseca, M.A.2
Cargia-Silva, M.T.3
-
63
-
-
0031727452
-
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity
-
Hanna M.G., Nelson I.P., Morgan-Hughes J.A., et al. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry 65 (1998) 512-517
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 512-517
-
-
Hanna, M.G.1
Nelson, I.P.2
Morgan-Hughes, J.A.3
-
64
-
-
0030686478
-
The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct
-
Majamaa K., Turkka J., Kärppä M., et al. The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology 49 (1997) 1331-1334
-
(1997)
Neurology
, vol.49
, pp. 1331-1334
-
-
Majamaa, K.1
Turkka, J.2
Kärppä, M.3
-
65
-
-
0027249378
-
The aetiology of posterior circulation infarcts: a prospective study using magnetic resonance imaging and magnetic resonance angiography
-
Bogousslavsky J., Regli F., Maeder P., et al. The aetiology of posterior circulation infarcts: a prospective study using magnetic resonance imaging and magnetic resonance angiography. Neurology 43 (1993) 1528-1533
-
(1993)
Neurology
, vol.43
, pp. 1528-1533
-
-
Bogousslavsky, J.1
Regli, F.2
Maeder, P.3
-
66
-
-
0023270881
-
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy
-
Ohama E., Ohara S., Ikuta F., et al. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol 74 (1987) 226-233
-
(1987)
Acta Neuropathol
, vol.74
, pp. 226-233
-
-
Ohama, E.1
Ohara, S.2
Ikuta, F.3
-
67
-
-
0021369845
-
Mitochondrial encephalomyopathy with lactatepyruvate elevation and brain infarctions
-
Kuriyama M., Umezaki H., Fukuda Y., et al. Mitochondrial encephalomyopathy with lactatepyruvate elevation and brain infarctions. Neurology 34 (1984) 72-77
-
(1984)
Neurology
, vol.34
, pp. 72-77
-
-
Kuriyama, M.1
Umezaki, H.2
Fukuda, Y.3
-
68
-
-
0030802354
-
Time course of the apparent diffusion coefficient (ADC) abnormality in human stroke
-
Schlaug G., Siewert B., Benfield A., et al. Time course of the apparent diffusion coefficient (ADC) abnormality in human stroke. Neurology 49 (1997) 113-119
-
(1997)
Neurology
, vol.49
, pp. 113-119
-
-
Schlaug, G.1
Siewert, B.2
Benfield, A.3
-
69
-
-
0034000525
-
Increased cerebral blood flow in MELAS shown by Tc-99m HMPOA brain SPECT
-
Peng N.J., Liu R.S., Li J.Y., et al. Increased cerebral blood flow in MELAS shown by Tc-99m HMPOA brain SPECT. Neuroradiology 42 (2000) 26-29
-
(2000)
Neuroradiology
, vol.42
, pp. 26-29
-
-
Peng, N.J.1
Liu, R.S.2
Li, J.Y.3
-
70
-
-
0032507974
-
Cerebral blood flow and oxygen metabolism before and after a stroke-like episode in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Takahashi S., Tohgi H., Yonezawa H., et al. Cerebral blood flow and oxygen metabolism before and after a stroke-like episode in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). J Neurol Sci 158 (1998) 58-64
-
(1998)
J Neurol Sci
, vol.158
, pp. 58-64
-
-
Takahashi, S.1
Tohgi, H.2
Yonezawa, H.3
-
73
-
-
0030774614
-
Heterogeneous presentation in Leigh syndrome
-
Vilarinho L., Maia C., Coelho T., et al. Heterogeneous presentation in Leigh syndrome. J Inherit Metab Dis 20 (1997) 704-705
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 704-705
-
-
Vilarinho, L.1
Maia, C.2
Coelho, T.3
-
75
-
-
0031861971
-
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy
-
Kuroiwa T., Kuwata T., Nakayama T., et al. Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. Acta Neuropathol 96 (1998) 86-90
-
(1998)
Acta Neuropathol
, vol.96
, pp. 86-90
-
-
Kuroiwa, T.1
Kuwata, T.2
Nakayama, T.3
-
76
-
-
0027216950
-
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred
-
Crimmins D.S., Morris J.G.L., Walker G.L., et al. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. J Neurol Neurosurg Psychiatry 56 (1993) 900-905
-
(1993)
J Neurol Neurosurg Psychiatry
, vol.56
, pp. 900-905
-
-
Crimmins, D.S.1
Morris, J.G.L.2
Walker, G.L.3
-
77
-
-
0031689851
-
A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Okajima Y., Tanabe Y., Takayanagi M., et al. A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Heart 80 (1998) 292-295
-
(1998)
Heart
, vol.80
, pp. 292-295
-
-
Okajima, Y.1
Tanabe, Y.2
Takayanagi, M.3
-
78
-
-
0029161867
-
Leu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness
-
Leu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet 32 (1995) 654-656
-
(1995)
J Med Genet
, vol.32
, pp. 654-656
-
-
Maneuver, S.1
Rotig, A.2
Hannebique, G.3
-
79
-
-
0029331289
-
Leu(UUR) 3243 presenting as hypertrophic cardiomyopathy
-
Leu(UUR) 3243 presenting as hypertrophic cardiomyopathy. Intern Med 34 (1995) 670-673
-
(1995)
Intern Med
, vol.34
, pp. 670-673
-
-
Hiruta, Y.1
Chin, K.2
Shitomi, K.3
-
81
-
-
0028918471
-
Cardiac involvement in mitochondrial diseases-a study of 17 patients with documented mitochondrial defects
-
Anan R., Nakagawa M., Miyata M., et al. Cardiac involvement in mitochondrial diseases-a study of 17 patients with documented mitochondrial defects. Circulation 91 (1995) 955-961
-
(1995)
Circulation
, vol.91
, pp. 955-961
-
-
Anan, R.1
Nakagawa, M.2
Miyata, M.3
-
82
-
-
0030715313
-
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation
-
Sue C.M., Mitchell P., Crimmins D.S., et al. Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation. Neurology 49 (1997) 1013-1017
-
(1997)
Neurology
, vol.49
, pp. 1013-1017
-
-
Sue, C.M.1
Mitchell, P.2
Crimmins, D.S.3
-
83
-
-
0028934221
-
An international classification and grading system for age-related macular degeneration. The international ARM epidemiological study group
-
Bird A.C., Bressler N.M., Bressler S.B., et al. An international classification and grading system for age-related macular degeneration. The international ARM epidemiological study group. Surv Ophthalmol 39 (1995) 367-374
-
(1995)
Surv Ophthalmol
, vol.39
, pp. 367-374
-
-
Bird, A.C.1
Bressler, N.M.2
Bressler, S.B.3
-
84
-
-
0032927702
-
Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS)
-
Karvonen S.-L., Haapasaari K.-M., Kallioinen M., et al. Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). Br J Dermatol 140 (1999) 634-639
-
(1999)
Br J Dermatol
, vol.140
, pp. 634-639
-
-
Karvonen, S.-L.1
Haapasaari, K.-M.2
Kallioinen, M.3
-
85
-
-
0025867042
-
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy
-
Horiguchi Y., Fujii T., and Imamura S. Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. J Dermatol 18 (1991) 295-301
-
(1991)
J Dermatol
, vol.18
, pp. 295-301
-
-
Horiguchi, Y.1
Fujii, T.2
Imamura, S.3
-
86
-
-
0025853407
-
MELAS of infantile onset: mitochondrial angiopathy or cytopathy?
-
Fujii T., Okuno T., Masatoshi I., et al. MELAS of infantile onset: mitochondrial angiopathy or cytopathy?. J Neurol Sci 103 (1991) 37-41
-
(1991)
J Neurol Sci
, vol.103
, pp. 37-41
-
-
Fujii, T.1
Okuno, T.2
Masatoshi, I.3
-
87
-
-
0025237072
-
Mitochondrial encephalomyopathy (MELAS) with mental disorder CT, MRI, and SPECT findings
-
Suzuki T., Koizumi J., Shiraishi H., et al. Mitochondrial encephalomyopathy (MELAS) with mental disorder CT, MRI, and SPECT findings. Neuroradiology 32 (1990) 74-76
-
(1990)
Neuroradiology
, vol.32
, pp. 74-76
-
-
Suzuki, T.1
Koizumi, J.2
Shiraishi, H.3
-
89
-
-
0033546906
-
Age and cause of death in mitochondrial diseases
-
Klopstock T., Jaksch M., and Gasser T. Age and cause of death in mitochondrial diseases. Neurology 53 (1999) 855
-
(1999)
Neurology
, vol.53
, pp. 855
-
-
Klopstock, T.1
Jaksch, M.2
Gasser, T.3
-
91
-
-
0026557947
-
Disorders of lysosomes, peroximes, and mitochondria
-
Kendall B.E. Disorders of lysosomes, peroximes, and mitochondria. Am J Neuroradiol 13 (1992) 621-639
-
(1992)
Am J Neuroradiol
, vol.13
, pp. 621-639
-
-
Kendall, B.E.1
-
92
-
-
0000597163
-
Striopallidodentate Calcifications
-
Vinken P.J., and Bruyn G.W. (Eds), Elsevier, Amsterdam
-
Lowenthal A. Striopallidodentate Calcifications. In: Vinken P.J., and Bruyn G.W. (Eds). Handbook of Clinical Neurology. (1986), Elsevier, Amsterdam 417-436
-
(1986)
Handbook of Clinical Neurology.
, pp. 417-436
-
-
Lowenthal, A.1
-
93
-
-
0017687063
-
Oculocraniosomatic neuromuscular disease with hypoparathyroidism
-
Toppet M., Telerman-Toppet N., Szliwowski H.B., et al. Oculocraniosomatic neuromuscular disease with hypoparathyroidism. Am J Dis Child 131 (1997) 437-441
-
(1997)
Am J Dis Child
, vol.131
, pp. 437-441
-
-
Toppet, M.1
Telerman-Toppet, N.2
Szliwowski, H.B.3
-
94
-
-
0017191458
-
A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency
-
Reynolds S.F., and Blass J.P. A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency. Neurology 26 (1976) 625-628
-
(1976)
Neurology
, vol.26
, pp. 625-628
-
-
Reynolds, S.F.1
Blass, J.P.2
-
95
-
-
0023182889
-
Computerized tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes); report of three cases
-
Hasuo K., Tamura S., Yasumori K., et al. Computerized tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes); report of three cases. Neuroradiology 29 (1987) 393-397
-
(1987)
Neuroradiology
, vol.29
, pp. 393-397
-
-
Hasuo, K.1
Tamura, S.2
Yasumori, K.3
-
96
-
-
0027722281
-
Proton MR spectroscopic characterisation of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies
-
Matthews P.M., Andermann F., Silver K., et al. Proton MR spectroscopic characterisation of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Neurology 43 (1993) 2484-2490
-
(1993)
Neurology
, vol.43
, pp. 2484-2490
-
-
Matthews, P.M.1
Andermann, F.2
Silver, K.3
-
97
-
-
0021175401
-
Mitochondrial encephalopathy: fluctuating symptoms and CT
-
Yamamoto T., Beppu H., and Tsubaki T. Mitochondrial encephalopathy: fluctuating symptoms and CT. Neurology 34 (1984) 1456-1460
-
(1984)
Neurology
, vol.34
, pp. 1456-1460
-
-
Yamamoto, T.1
Beppu, H.2
Tsubaki, T.3
-
98
-
-
0025953999
-
Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
-
Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 41 (1991) 1663-1665
-
(1991)
Neurology
, vol.41
, pp. 1663-1665
-
-
Ciafaloni, E.1
Ricci, E.2
Servidei, S.3
-
99
-
-
0027256708
-
Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS
-
Love S., Nicoll A.R., and Kinrade E. Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS. J Pathol 170 (1993) 9-14
-
(1993)
J Pathol
, vol.170
, pp. 9-14
-
-
Love, S.1
Nicoll, A.R.2
Kinrade, E.3
-
100
-
-
0027453170
-
Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes
-
Shoji Y., Sato W., Hayasaka K., et al. Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes. J Inherit Metab Dis 16 (1993) 27-30
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 27-30
-
-
Shoji, Y.1
Sato, W.2
Hayasaka, K.3
-
101
-
-
0023810655
-
An autopsy case of mitochondrial encephalopathy: biochemical and electron microscopic studies of the brain
-
Kishi M., Yamamura Y., Kuriharra T., et al. An autopsy case of mitochondrial encephalopathy: biochemical and electron microscopic studies of the brain. J Neurol Sci 86 (1988) 31-40
-
(1988)
J Neurol Sci
, vol.86
, pp. 31-40
-
-
Kishi, M.1
Yamamura, Y.2
Kuriharra, T.3
-
102
-
-
0027510301
-
Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes
-
Ooiwa Y., Uematsu Y., Terada T., et al. Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes. Stroke 24 (1993) 304-309
-
(1993)
Stroke
, vol.24
, pp. 304-309
-
-
Ooiwa, Y.1
Uematsu, Y.2
Terada, T.3
-
103
-
-
0029072327
-
Clinical features of MELAS and mitochondrial DNA mutations
-
Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 3 (1995) S107-S112
-
(1995)
Muscle Nerve
, Issue.3
-
-
Goto, Y.1
-
104
-
-
0024343409
-
Vascular involvement in mitochondrial myopathy
-
Sakuta R., and Nonaka I. Vascular involvement in mitochondrial myopathy. Ann Neurol 25 (1989) 594-601
-
(1989)
Ann Neurol
, vol.25
, pp. 594-601
-
-
Sakuta, R.1
Nonaka, I.2
-
105
-
-
0027419495
-
Increased mitochondrial DNA in blood vessels and ragged-red fibres in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS)
-
Tokunaga M., Mita S., Sakuta R., et al. Increased mitochondrial DNA in blood vessels and ragged-red fibres in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). Ann Neurol 33 (1993) 275-280
-
(1993)
Ann Neurol
, vol.33
, pp. 275-280
-
-
Tokunaga, M.1
Mita, S.2
Sakuta, R.3
-
106
-
-
0025825012
-
Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS)
-
Hasegawa T., Matsuoka T., Goto Y., et al. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). Ann Neurol 29 (1991) 601-605
-
(1991)
Ann Neurol
, vol.29
, pp. 601-605
-
-
Hasegawa, T.1
Matsuoka, T.2
Goto, Y.3
-
107
-
-
0026469751
-
Strongly succinate dehydrogenase-reactive blood vessels (SSV) in various neuromuscular diseases
-
Matsuoka T., Hasegawa T., and Nonaka I. Strongly succinate dehydrogenase-reactive blood vessels (SSV) in various neuromuscular diseases. Clin Neurol 32 (1992) 645-647
-
(1992)
Clin Neurol
, vol.32
, pp. 645-647
-
-
Matsuoka, T.1
Hasegawa, T.2
Nonaka, I.3
-
108
-
-
0027228506
-
Mitochondrial disorders: analysis of their clinical and imaging characteristics
-
Barkovich A.J., Good W.V., Koch T.K., et al. Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am J Neuroradiol 14 (1993) 1119-1137
-
(1993)
Am J Neuroradiol
, vol.14
, pp. 1119-1137
-
-
Barkovich, A.J.1
Good, W.V.2
Koch, T.K.3
-
110
-
-
0023723011
-
Brain metabolism in mitochondrial encephalopathy: a PET study
-
De Volder A., Ghilain S., de Barsy T., et al. Brain metabolism in mitochondrial encephalopathy: a PET study. J Comput Assist Tomogr 12 (1988) 854-857
-
(1988)
J Comput Assist Tomogr
, vol.12
, pp. 854-857
-
-
De Volder, A.1
Ghilain, S.2
de Barsy, T.3
-
111
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348 (1990) 651-653
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
112
-
-
0025534162
-
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes)
-
Kobayashi Y., Momoi M.Y., Tominaga K., et al. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). Biochem Biophys Res Commun 173 (1990) 816-822
-
(1990)
Biochem Biophys Res Commun
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
-
113
-
-
0033865170
-
Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation
-
Penisson-Besnier I., Reynier P., Asfar P., et al. Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation. Neurology 55 (2000) 317-318
-
(2000)
Neurology
, vol.55
, pp. 317-318
-
-
Penisson-Besnier, I.1
Reynier, P.2
Asfar, P.3
-
114
-
-
0027311193
-
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA
-
Graf W.D., Sumi S.M., Copass M.K., et al. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA. Ann Neurol 33 (1993) 640-645
-
(1993)
Ann Neurol
, vol.33
, pp. 640-645
-
-
Graf, W.D.1
Sumi, S.M.2
Copass, M.K.3
-
115
-
-
0027288377
-
The mitochondrial DNA transfer RNALysA→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 S.R., Sweeney M.G., Brockington M., et al. The mitochondrial DNA transfer RNALysA→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 (1993) 617-632
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
116
-
-
0029977170
-
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
-
Howell N., Kubacka I., Smith R., et al. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 46 (1996) 219-222
-
(1996)
Neurology
, vol.46
, pp. 219-222
-
-
Howell, N.1
Kubacka, I.2
Smith, R.3
-
117
-
-
0025992003
-
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS)
-
Kobayashi Y., Momoi M.Y., Tominaga K., et al. Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). Am J Hum Genet 49 (1991) 590-599
-
(1991)
Am J Hum Genet
, vol.49
, pp. 590-599
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
-
118
-
-
0026621445
-
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Boulet L., Karpati G., and Shoubridge E.A. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51 (1992) 1187-1200
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.A.3
-
119
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt I.J., Harding A.E., Petty R.K.H., et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46 (1990) 428-433
-
(1990)
Am J Hum Genet
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.K.H.3
-
120
-
-
0027328501
-
Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation
-
Macmillan C., Lach B., and Shoubridge E.A. Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 43 (1993) 1586-1590
-
(1993)
Neurology
, vol.43
, pp. 1586-1590
-
-
Macmillan, C.1
Lach, B.2
Shoubridge, E.A.3
-
121
-
-
0026764974
-
The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) were selectively amplified through generations
-
Kobayashi Y., Ichihashi K., Ohta S., et al. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) were selectively amplified through generations. J Inherit Metab Dis 15 (1992) 803-808
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 803-808
-
-
Kobayashi, Y.1
Ichihashi, K.2
Ohta, S.3
-
122
-
-
0026685812
-
Correlation between clinical and molecular features in two MELAS families
-
Martinuzzi A., Bartolomei L., Carrozzo R., et al. Correlation between clinical and molecular features in two MELAS families. J Neurol Sci 113 (1992) 222-229
-
(1992)
J Neurol Sci
, vol.113
, pp. 222-229
-
-
Martinuzzi, A.1
Bartolomei, L.2
Carrozzo, R.3
-
123
-
-
0027751319
-
Content of mutant mitochondrial DNA organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies
-
Shiraiwa N., Ishii A., Iwamoto H., et al. Content of mutant mitochondrial DNA organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies. J Neurol Sci 120 (1993) 174-179
-
(1993)
J Neurol Sci
, vol.120
, pp. 174-179
-
-
Shiraiwa, N.1
Ishii, A.2
Iwamoto, H.3
-
124
-
-
0028072138
-
MELAS syndrome: correlation between clinical features and molecular genetic analysis
-
Liou C.W., Huang C.C., Chee E.C., et al. MELAS syndrome: correlation between clinical features and molecular genetic analysis. Acta Neurol Scand 90 (1994) 354-359
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 354-359
-
-
Liou, C.W.1
Huang, C.C.2
Chee, E.C.3
-
125
-
-
0028928815
-
Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA
-
Campos Y., Bautista J., Gutierrez-Rivas E., et al. Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA. Acta Neurol Scand 91 (1995) 62-65
-
(1995)
Acta Neurol Scand
, vol.91
, pp. 62-65
-
-
Campos, Y.1
Bautista, J.2
Gutierrez-Rivas, E.3
-
126
-
-
0031712755
-
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring
-
Chinnery P.F., Howell N., Lightowlers R.N., et al. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 121 (1998) 1889-1894
-
(1998)
Brain
, vol.121
, pp. 1889-1894
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
-
127
-
-
0001035745
-
Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities
-
Tsairis P., Engel W.K., and Kark P. Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology 23 (1973) 408
-
(1973)
Neurology
, vol.23
, pp. 408
-
-
Tsairis, P.1
Engel, W.K.2
Kark, P.3
-
128
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fibre disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner J.M., Lott M.T., Lezza A.M., et al. Myoclonic epilepsy and ragged-red fibre disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61 (1990) 931-937
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
-
129
-
-
0024420201
-
Myoclonus epilepsy and ragged red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
-
Berkovic S.F., Carpenter S., Evans A., et al. Myoclonus epilepsy and ragged red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 112 (1989) 1231-1260
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, S.F.1
Carpenter, S.2
Evans, A.3
-
130
-
-
0025769336
-
Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes
-
Tulinius M.H., Holme E., Kristiansson B., et al. Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes. J Pediatr 119 (1991) 251-259
-
(1991)
J Pediatr
, vol.119
, pp. 251-259
-
-
Tulinius, M.H.1
Holme, E.2
Kristiansson, B.3
-
131
-
-
0025822001
-
Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review
-
Geny C., Cormier V., Meyrignac C., et al. Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review. J Neurol 238 (1991) 171-176
-
(1991)
J Neurol
, vol.238
, pp. 171-176
-
-
Geny, C.1
Cormier, V.2
Meyrignac, C.3
-
132
-
-
0028047561
-
Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with a progressive myoclonic epilepsy
-
Sweeney M.G., Hammans S.R., Duchen L.W., et al. Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with a progressive myoclonic epilepsy. J Neurol Sci 121 (1994) 57-65
-
(1994)
J Neurol Sci
, vol.121
, pp. 57-65
-
-
Sweeney, M.G.1
Hammans, S.R.2
Duchen, L.W.3
-
133
-
-
0031769033
-
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past
-
Santorelli F.M., Tanji K., Shanske S., et al. The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past. Ann Neurol 44 (1998) 962-964
-
(1998)
Ann Neurol
, vol.44
, pp. 962-964
-
-
Santorelli, F.M.1
Tanji, K.2
Shanske, S.3
-
134
-
-
0025924416
-
G(8344) mutation in Italian families with myoclonus, epilepsy and ragged red fibres (MERRF)
-
G(8344) mutation in Italian families with myoclonus, epilepsy and ragged red fibres (MERRF). Am J Hum Genet 48 (1991) 203-211
-
(1991)
Am J Hum Genet
, vol.48
, pp. 203-211
-
-
Zeviani, M.1
Servidei, S.2
Bresolin, N.3
-
135
-
-
0029059067
-
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
-
Enriquez J.A., Chomyn A., and Attardi G. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat Genet 10 (1995) 47-55
-
(1995)
Nat Genet
, vol.10
, pp. 47-55
-
-
Enriquez, J.A.1
Chomyn, A.2
Attardi, G.3
-
136
-
-
0031026069
-
Myoclonus epilepsy associated with ragged-red fibres. a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families
-
Ozawa M., Nishino I., Horai S., et al. Myoclonus epilepsy associated with ragged-red fibres. a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve 20 (1997) 271-278
-
(1997)
Muscle Nerve
, vol.20
, pp. 271-278
-
-
Ozawa, M.1
Nishino, I.2
Horai, S.3
-
137
-
-
0029119782
-
Maternally inherited hearing loss, ataxia, and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
-
Tiranti V., Chariot P., Carella F., et al. Maternally inherited hearing loss, ataxia, and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 4 (1995) 1421-1427
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
-
138
-
-
0024428794
-
Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies
-
So N., Berkovic S.F., Andermann F., et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain 112 (1989) 1261-1276
-
(1989)
Brain
, vol.112
, pp. 1261-1276
-
-
So, N.1
Berkovic, S.F.2
Andermann, F.3
-
139
-
-
0021929746
-
Maternally inherited mitochondrial myopathy and myoclonic epilepsy
-
Rosing H.S., Hopkins L.C., Wallace D.C., et al. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 17 (1985) 228-237
-
(1985)
Ann Neurol
, vol.17
, pp. 228-237
-
-
Rosing, H.S.1
Hopkins, L.C.2
Wallace, D.C.3
-
140
-
-
0025784125
-
MERRF: a model disease for understanding the principles of mitochondrial genetics
-
Shoffner J.M., Lott M.T., and Wallace D.C. MERRF: a model disease for understanding the principles of mitochondrial genetics. Rev Neurol 147 (1991) 431-435
-
(1991)
Rev Neurol
, vol.147
, pp. 431-435
-
-
Shoffner, J.M.1
Lott, M.T.2
Wallace, D.C.3
-
141
-
-
0025811391
-
Mitochondrial dysfunction in multiple symmetrical lipomatosis
-
Berkovic S.F., Andermann F., Shoubridge E.A., et al. Mitochondrial dysfunction in multiple symmetrical lipomatosis. Ann Neurol 29 (1991) 566-599
-
(1991)
Ann Neurol
, vol.29
, pp. 566-599
-
-
Berkovic, S.F.1
Andermann, F.2
Shoubridge, E.A.3
-
142
-
-
0023855065
-
Neuropathology of myoclonus epilepsy associated with ragged red fibres (Fukuhara's disease)
-
Takeda S., Wakabayashi K., Ohama E., et al. Neuropathology of myoclonus epilepsy associated with ragged red fibres (Fukuhara's disease). Acta Neuropathol 75 (1988) 433-440
-
(1988)
Acta Neuropathol
, vol.75
, pp. 433-440
-
-
Takeda, S.1
Wakabayashi, K.2
Ohama, E.3
-
143
-
-
0027441181
-
Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation
-
Ortiz R., Newman N.J., Shoffner J.M., et al. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 111 (1993) 1525-1530
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1525-1530
-
-
Ortiz, R.1
Newman, N.J.2
Shoffner, J.M.3
-
144
-
-
0027974169
-
Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including "cerebral palsy."
-
Fryer A., Appleton R., Sweeney M.G., et al. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including "cerebral palsy.". Arch Dis Child 71 (1994) 419-422
-
(1994)
Arch Dis Child
, vol.71
, pp. 419-422
-
-
Fryer, A.1
Appleton, R.2
Sweeney, M.G.3
-
145
-
-
0028936818
-
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
-
Makela-Bengs P., Soumalainene A., Majander A., et al. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Paediatr Res 378 (1995) 634-639
-
(1995)
Paediatr Res
, vol.378
, pp. 634-639
-
-
Makela-Bengs, P.1
Soumalainene, A.2
Majander, A.3
-
146
-
-
0027476863
-
Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family
-
Puddu P., Barboni P., Mantovani V., et al. Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br J Ophthalmol 77 (1993) 84-88
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 84-88
-
-
Puddu, P.1
Barboni, P.2
Mantovani, V.3
-
147
-
-
0030749664
-
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families
-
Uziel G., Moroni I., Lamantea E., et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63 (1997) 16-22
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 16-22
-
-
Uziel, G.1
Moroni, I.2
Lamantea, E.3
-
149
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of mtDNA is high
-
Tatuch Y., Christodoulou J., Feigenbaum A., et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of mtDNA is high. Am J Hum Genet 50 (1992) 852-858
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
-
151
-
-
0027197011
-
A T→G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome
-
Yoshinaga Y., Tatsuya O., Shunsuke O., et al. A T→G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome. J Child Neurol 8 (1993) 129-133
-
(1993)
J Child Neurol
, vol.8
, pp. 129-133
-
-
Yoshinaga, Y.1
Tatsuya, O.2
Shunsuke, O.3
-
152
-
-
0027451284
-
The mutation at 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
-
Santorelli F.M., Shanske S., Macaya A., et al. The mutation at 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34 (1993) 827-834
-
(1993)
Ann Neurol
, vol.34
, pp. 827-834
-
-
Santorelli, F.M.1
Shanske, S.2
Macaya, A.3
-
153
-
-
0027166021
-
A second missense mutation in the ATPase 6 gene in Leigh's syndrome
-
De Vries D.D., van Engelen B.G., Gabreëls F.J., et al. A second missense mutation in the ATPase 6 gene in Leigh's syndrome. Ann Neurol 34 (1993) 410-412
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
De Vries, D.D.1
van Engelen, B.G.2
Gabreëls, F.J.3
-
154
-
-
0028182912
-
A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
-
Santorelli F.M., Shanske S., Jain K.D., et al. A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 44 (1994) 972-974
-
(1994)
Neurology
, vol.44
, pp. 972-974
-
-
Santorelli, F.M.1
Shanske, S.2
Jain, K.D.3
-
155
-
-
0022492015
-
The mechanism of ATP synthase: a reassessment of the function of the β and α subunit
-
Cox G.B., Fimmel A.L., Gibson F., et al. The mechanism of ATP synthase: a reassessment of the function of the β and α subunit. Biochim Biophys Acta 849 (1986) 62-69
-
(1986)
Biochim Biophys Acta
, vol.849
, pp. 62-69
-
-
Cox, G.B.1
Fimmel, A.L.2
Gibson, F.3
-
156
-
-
0024371966
-
A perspective of the binding change mechanism for ATP synthesis
-
Boyer P.D. A perspective of the binding change mechanism for ATP synthesis. FASEB J 3 (1989) 2146-2178
-
(1989)
FASEB J
, vol.3
, pp. 2146-2178
-
-
Boyer, P.D.1
-
157
-
-
0029919608
-
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
-
Vazquez-Memije M.E., Shanske S., Santorelli F.M., et al. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. J Inherit Metab Dis 19 (1996) 43-50
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 43-50
-
-
Vazquez-Memije, M.E.1
Shanske, S.2
Santorelli, F.M.3
-
158
-
-
0031442397
-
Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP
-
Sembrano E., Barthlen G.M., Wallace S., et al. Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP. Neurology 49 (1997) 1714-1717
-
(1997)
Neurology
, vol.49
, pp. 1714-1717
-
-
Sembrano, E.1
Barthlen, G.M.2
Wallace, S.3
-
159
-
-
0033039431
-
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
-
Parfait B., de Lonlay P., von Kleist-Retzow J.C., et al. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr 158 (1999) 55-58
-
(1999)
Eur J Pediatr
, vol.158
, pp. 55-58
-
-
Parfait, B.1
de Lonlay, P.2
von Kleist-Retzow, J.C.3
-
160
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14 (1951) 216-221
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
161
-
-
0029891215
-
Genetic heterogeneity in Leigh syndrome
-
Di Mauro S., and De Vivo D.C. Genetic heterogeneity in Leigh syndrome. Ann Neurol 40 (1996) 5-7
-
(1996)
Ann Neurol
, vol.40
, pp. 5-7
-
-
Di Mauro, S.1
De Vivo, D.C.2
-
162
-
-
0023236562
-
Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency
-
Van Erven P.M., Gabreels F.J., Ruitenbeek W., et al. Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency. Arch Neurol 44 (1987) 775-778
-
(1987)
Arch Neurol
, vol.44
, pp. 775-778
-
-
Van Erven, P.M.1
Gabreels, F.J.2
Ruitenbeek, W.3
-
163
-
-
0017659070
-
Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue
-
Willems J.L., Monnens L.A., Trijbels J.M., et al. Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 60 (1977) 850-857
-
(1977)
Pediatrics
, vol.60
, pp. 850-857
-
-
Willems, J.L.1
Monnens, L.A.2
Trijbels, J.M.3
-
164
-
-
0025831999
-
Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations
-
Van Coster R., Lombes A., De Vivo D.C., et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci 104 (1991) 97-111
-
(1991)
J Neurol Sci
, vol.104
, pp. 97-111
-
-
Van Coster, R.1
Lombes, A.2
De Vivo, D.C.3
-
165
-
-
0023136125
-
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotising encephalopathy (Leigh disease)
-
Kretzschmar H.A., De Armond S.J., Koch T.K., et al. Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotising encephalopathy (Leigh disease). Pediatrics 79 (1987) 370-373
-
(1987)
Pediatrics
, vol.79
, pp. 370-373
-
-
Kretzschmar, H.A.1
De Armond, S.J.2
Koch, T.K.3
-
166
-
-
0024457140
-
Biotinidase deficiency: a cause of subacute necrotising encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome
-
Baumgartner E.R., Suormala T.M., Wick H., et al. Biotinidase deficiency: a cause of subacute necrotising encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res 26 (1989) 260-266
-
(1989)
Pediatr Res
, vol.26
, pp. 260-266
-
-
Baumgartner, E.R.1
Suormala, T.M.2
Wick, H.3
-
167
-
-
0029985716
-
Leigh syndrome: clinical features and biochemical and DNA abnormalities
-
Rahman S., Blok R.B., Dahl H.H., et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39 (1996) 343-351
-
(1996)
Ann Neurol
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
-
168
-
-
0027208229
-
Molecular genetic characterization of an X-linked form of Leigh's syndrome
-
Matthews P.M., Marchington D.R., Squier M., et al. Molecular genetic characterization of an X-linked form of Leigh's syndrome. Ann Neurol 33 (1993) 652-655
-
(1993)
Ann Neurol
, vol.33
, pp. 652-655
-
-
Matthews, P.M.1
Marchington, D.R.2
Squier, M.3
-
169
-
-
0032471351
-
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
-
Loeffen J., Smeitink J., Triepels R., et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 6 (1998) 1598-1608
-
(1998)
Am J Hum Genet
, vol.6
, pp. 1598-1608
-
-
Loeffen, J.1
Smeitink, J.2
Triepels, R.3
-
170
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T., Rustin P., Chretien M., et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 11 (1995) 144-149
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, M.3
-
171
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti V., Hoertnagel K., Carrozzo R., et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63 (1998) 1609-1621
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
-
172
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu Z., Yao J., Johns T., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20 (1998) 337-343
-
(1998)
Nat Genet
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
-
173
-
-
0034015368
-
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
-
Sue C.M., Karadimas C., Checcarelli N., et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 47 (2000) 589-595
-
(2000)
Ann Neurol
, vol.47
, pp. 589-595
-
-
Sue, C.M.1
Karadimas, C.2
Checcarelli, N.3
-
174
-
-
17744421507
-
MELAS exhibits dominant negative effects on mitochondrial RNA processing
-
Koga Y., Yoshino M., and Kato H. MELAS exhibits dominant negative effects on mitochondrial RNA processing. Ann Neurol 43 (1998) 835
-
(1998)
Ann Neurol
, vol.43
, pp. 835
-
-
Koga, Y.1
Yoshino, M.2
Kato, H.3
-
175
-
-
0030766076
-
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome
-
Chalmers R.M., Lamont P.J., Nelson I., et al. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology 49 (1997) 589-592
-
(1997)
Neurology
, vol.49
, pp. 589-592
-
-
Chalmers, R.M.1
Lamont, P.J.2
Nelson, I.3
-
176
-
-
0025986459
-
Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients
-
Yamamoto M., Clemens P.R., and Engel A.G. Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients. Neurology 41 (1991) 1822-1828
-
(1991)
Neurology
, vol.41
, pp. 1822-1828
-
-
Yamamoto, M.1
Clemens, P.R.2
Engel, A.G.3
-
177
-
-
0026646537
-
Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study
-
Yamadori I., Kurose A., Kobayashi S., et al. Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study. Acta Neuropathol 84 (1992) 337-341
-
(1992)
Acta Neuropathol
, vol.84
, pp. 337-341
-
-
Yamadori, I.1
Kurose, A.2
Kobayashi, S.3
-
178
-
-
0031971261
-
Liver failure associated with mitochondrial DNA depletion
-
Morris A.A., Taanman J.W., Blake J., et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 28 (1998) 556-563
-
(1998)
J Hepatol
, vol.28
, pp. 556-563
-
-
Morris, A.A.1
Taanman, J.W.2
Blake, J.3
-
179
-
-
0028810803
-
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
-
De Meirleir L., Seneca S., Lissens W., et al. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Paediatr Neurol 13 (1995) 242-246
-
(1995)
Paediatr Neurol
, vol.13
, pp. 242-246
-
-
De Meirleir, L.1
Seneca, S.2
Lissens, W.3
-
180
-
-
0029122341
-
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
-
Thyagarajan D., Shanske S., Vazquez Memije M., et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 38 (1995) 468-472
-
(1995)
Ann Neurol
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
Shanske, S.2
Vazquez Memije, M.3
-
181
-
-
0026015896
-
MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial disease
-
Moraes C.T., Shanske S., Tritschler H.J., et al. MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial disease. Am J Hum Genet 48 (1991) 492-501
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
-
182
-
-
0030927245
-
Molecular mechanisms in mitochondrial DNA depletion syndrome
-
Taanman J.W., Bodnar A.G., Cooper J.M., et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet 6 (1997) 935-942
-
(1997)
Hum Mol Genet
, vol.6
, pp. 935-942
-
-
Taanman, J.W.1
Bodnar, A.G.2
Cooper, J.M.3
-
183
-
-
0031747955
-
Clinical manifestations of mitochondrial DNA depletion
-
Vu T.H., Sciacco M., Tanji K., et al. Clinical manifestations of mitochondrial DNA depletion. Neurology 50 (1998) 1783-1790
-
(1998)
Neurology
, vol.50
, pp. 1783-1790
-
-
Vu, T.H.1
Sciacco, M.2
Tanji, K.3
-
184
-
-
0030249589
-
Mitochondrial myopathy simulating spinal muscular atrophy
-
Pons R., Andreetta F., Wang C.H., et al. Mitochondrial myopathy simulating spinal muscular atrophy. Pediatr Neurol 15 (1996) 153-258
-
(1996)
Pediatr Neurol
, vol.15
, pp. 153-258
-
-
Pons, R.1
Andreetta, F.2
Wang, C.H.3
-
185
-
-
0034950509
-
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
-
Vu T.H., Tanji K., Holve S.A., et al. Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?. Hepatology 34 (2001) 116-120
-
(2001)
Hepatology
, vol.34
, pp. 116-120
-
-
Vu, T.H.1
Tanji, K.2
Holve, S.A.3
-
186
-
-
0027496432
-
Nuclear complementation restores mtDNA levels in cultures cells from a patient with mtDNA depletion
-
Bodnar A.G., Cooper J.M., Holy I.J., et al. Nuclear complementation restores mtDNA levels in cultures cells from a patient with mtDNA depletion. Am J Hum Genet 53 (1993) 663-669
-
(1993)
Am J Hum Genet
, vol.53
, pp. 663-669
-
-
Bodnar, A.G.1
Cooper, J.M.2
Holy, I.J.3
-
187
-
-
0023615870
-
Myo-neuro-gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome c oxidase. A new mitochondrial multisystem disorder
-
Bardosi A., Creutzfeldt W., DiMauro S., et al. Myo-neuro-gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome c oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74 (1987) 248-258
-
(1987)
Acta Neuropathol
, vol.74
, pp. 248-258
-
-
Bardosi, A.1
Creutzfeldt, W.2
DiMauro, S.3
-
188
-
-
0028301915
-
Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M., Silvestri G., Blake D.M., et al. Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44 (1994) 721-727
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
-
189
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE: a human mitochondrial disorder
-
Nishino I., Spinazzola A., and Hirano M. Thymidine phosphorylase gene mutations in MNGIE: a human mitochondrial disorder. Science 283 (1999) 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
190
-
-
0000754075
-
Leber's Hereditary Optic Neuropathy
-
Schapira A., and DiMauro S. (Eds), Butterworth-Heinemann, Oxford
-
Harding A.E., and Sweeney M.G. Leber's Hereditary Optic Neuropathy. In: Schapira A., and DiMauro S. (Eds). Mitochondrial Disorders in Neurology. (1994), Butterworth-Heinemann, Oxford 181-198
-
(1994)
Mitochondrial Disorders in Neurology.
, pp. 181-198
-
-
Harding, A.E.1
Sweeney, M.G.2
-
191
-
-
0026746739
-
A variant of Leber's hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
-
Mackey D., and Howell N. A variant of Leber's hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 51 (1992) 1218-1228
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1218-1228
-
-
Mackey, D.1
Howell, N.2
-
192
-
-
0030788483
-
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?
-
Howell N. Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?. J Bioenerg Biomembr 29 (1997) 165-173
-
(1997)
J Bioenerg Biomembr
, vol.29
, pp. 165-173
-
-
Howell, N.1
-
193
-
-
0028349620
-
Platelet mitochondrial function in Leber's hereditary optic neuropathy
-
Smith P.R., Cooper J.M., Govan G.G., et al. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci 122 (1994) 80-83
-
(1994)
J Neurol Sci
, vol.122
, pp. 80-83
-
-
Smith, P.R.1
Cooper, J.M.2
Govan, G.G.3
-
194
-
-
0025936841
-
Leber's hereditary optic neuropathy and complex I deficiency in muscle
-
Larsson N.G., Andersen O., Holme E., et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 30 (1991) 701-708
-
(1991)
Ann Neurol
, vol.30
, pp. 701-708
-
-
Larsson, N.G.1
Andersen, O.2
Holme, E.3
-
195
-
-
0025820109
-
X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
-
Bu X.D., and Rotter J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci U S A 88 (1991) 8198-8202
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 8198-8202
-
-
Bu, X.D.1
Rotter, J.I.2
-
196
-
-
0029981001
-
Evidence against an X-linked visual susceptibility locus in Leber hereditary optic neuropathy
-
Chalmers R.M., Davis M.B., Sweeney M.G., et al. Evidence against an X-linked visual susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet 59 (1996) 103-108
-
(1996)
Am J Hum Genet
, vol.59
, pp. 103-108
-
-
Chalmers, R.M.1
Davis, M.B.2
Sweeney, M.G.3
-
197
-
-
0029041731
-
Antibodies to human optic nerve in Leber's hereditary optic neuropathy
-
Smith P.R., Cooper J.M., Govan G.G., et al. Antibodies to human optic nerve in Leber's hereditary optic neuropathy. J Neurol Sci 130 (1995) 134-138
-
(1995)
J Neurol Sci
, vol.130
, pp. 134-138
-
-
Smith, P.R.1
Cooper, J.M.2
Govan, G.G.3
-
198
-
-
0026782507
-
Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
-
Harding A.E., Sweeney M.G., Miller D.H., et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115 (1992) 979-989
-
(1992)
Brain
, vol.115
, pp. 979-989
-
-
Harding, A.E.1
Sweeney, M.G.2
Miller, D.H.3
-
199
-
-
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 A.S., Brown M.D., and Wallace D.C. 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 (1994) 6206-6210
-
(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
-
200
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
De Vries D.D., Went L.N., Bruyn G.W., et al. 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 (1996) 703-711
-
(1996)
Am J Hum Genet
, vol.58
, pp. 703-711
-
-
De Vries, D.D.1
Went, L.N.2
Bruyn, G.W.3
-
201
-
-
0021913432
-
Pre-excitation syndrome and Leber's hereditary optic neuropathy
-
Nikoskelainen E., Wanne O., and Dahl M. Pre-excitation syndrome and Leber's hereditary optic neuropathy. Lancet 1 (1985) 696
-
(1985)
Lancet
, vol.1
, pp. 696
-
-
Nikoskelainen, E.1
Wanne, O.2
Dahl, M.3
-
202
-
-
0015374330
-
Familial mitochondrial myopathy: disordered oxidative metabolism in muscle fibres
-
Hudgson P., Bradley W.G., and Jenkinson M. Familial mitochondrial myopathy: disordered oxidative metabolism in muscle fibres. J Neurol Sci 16 (1972) 343-370
-
(1972)
J Neurol Sci
, vol.16
, pp. 343-370
-
-
Hudgson, P.1
Bradley, W.G.2
Jenkinson, M.3
-
203
-
-
0017351423
-
Myopathies with abnormal mitochondria. A clinical, histological, and electro-physiological study
-
Kamieniecka Z. Myopathies with abnormal mitochondria. A clinical, histological, and electro-physiological study. Acta Neurol Scand 55 (1977) 57-75
-
(1977)
Acta Neurol Scand
, vol.55
, pp. 57-75
-
-
Kamieniecka, Z.1
-
204
-
-
0024269520
-
Findings in muscle in complex I (NADH Coenzyme Q reductase) deficiency
-
Koga Y., Nonaka I., Kobayashi H., et al. Findings in muscle in complex I (NADH Coenzyme Q reductase) deficiency. Ann Neurol 24 (1988) 749-756
-
(1988)
Ann Neurol
, vol.24
, pp. 749-756
-
-
Koga, Y.1
Nonaka, I.2
Kobayashi, H.3
-
205
-
-
0023085827
-
The Mitochondrial Myopathies. Defects of the Respiratory Chain and Oxidative Phosphorylation System
-
Ellingson R.J., Murray N.M.F., and Halliday A.M. (Eds), Elsevier, Amsterdam
-
Morgan-Hughes J.A., Cooper J.M., Schapira A., et al. The Mitochondrial Myopathies. Defects of the Respiratory Chain and Oxidative Phosphorylation System. In: Ellingson R.J., Murray N.M.F., and Halliday A.M. (Eds). The London Symposia. (1987), Elsevier, Amsterdam 103-114
-
(1987)
The London Symposia.
, pp. 103-114
-
-
Morgan-Hughes, J.A.1
Cooper, J.M.2
Schapira, A.3
-
206
-
-
0025274663
-
Mitochondrial myopathy caused by long-term zidovudine therapy
-
Dalakas M.C., Illa I., Pezeshkpour G.H., et al. Mitochondrial myopathy caused by long-term zidovudine therapy. N Engl J Med 322 (1990) 1098-1105
-
(1990)
N Engl J Med
, vol.322
, pp. 1098-1105
-
-
Dalakas, M.C.1
Illa, I.2
Pezeshkpour, G.H.3
-
207
-
-
0028221762
-
Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage
-
Dalakas M.C., Monzon M.E., Bernardini I., et al. Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage. Ann Neurol 35 (1994) 483-487
-
(1994)
Ann Neurol
, vol.35
, pp. 483-487
-
-
Dalakas, M.C.1
Monzon, M.E.2
Bernardini, I.3
-
208
-
-
0025835105
-
Fulminant hepatic failure associated with 2′-3′-dideoxy-inosine (ddI)
-
Lai K.K., Gang D.L., Zawacki J.K., et al. Fulminant hepatic failure associated with 2′-3′-dideoxy-inosine (ddI). Ann Intern Med 115 (1991) 283-284
-
(1991)
Ann Intern Med
, vol.115
, pp. 283-284
-
-
Lai, K.K.1
Gang, D.L.2
Zawacki, J.K.3
-
209
-
-
0034699898
-
Adverse effects of antiretroviral therapy
-
Carr A., and Cooper D.A. Adverse effects of antiretroviral therapy. Lancet 356 (2000) 1423-1430
-
(2000)
Lancet
, vol.356
, pp. 1423-1430
-
-
Carr, A.1
Cooper, D.A.2
-
210
-
-
0033604060
-
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogs
-
Blanche S., Tardieu M., Rustin P., et al. Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogs. Lancet 354 (1999) 1084-1089
-
(1999)
Lancet
, vol.354
, pp. 1084-1089
-
-
Blanche, S.1
Tardieu, M.2
Rustin, P.3
-
212
-
-
0025727366
-
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
-
Zupanc M.I., Moraes C.T., Shanske S., et al. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann Neurol 29 (1991) 680-683
-
(1991)
Ann Neurol
, vol.29
, pp. 680-683
-
-
Zupanc, M.I.1
Moraes, C.T.2
Shanske, S.3
-
213
-
-
0024270364
-
Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies
-
Byrne E., Trounce I., Dennett X., et al. Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies. J Neurol Sci 88 (1988) 327-338
-
(1988)
J Neurol Sci
, vol.88
, pp. 327-338
-
-
Byrne, E.1
Trounce, I.2
Dennett, X.3
-
214
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., Agapian J.V., Bohlman M.C., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4 (1993) 289-294
-
(1993)
Nat Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
-
215
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid F.M., Vernham G.A., and Jacobs H.T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3 (1994) 243-247
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
216
-
-
0343171688
-
Sensorineural hearing loss with a mitochondrial gene point mutation is highly prevalent in Japan
-
St Petersburg, Florida
-
Oshima T, Ikeda K, Ueda N, et al. Sensorineural hearing loss with a mitochondrial gene point mutation is highly prevalent in Japan. In Association for Research in Otolaryngology. St Petersburg, Florida, 1999:11-99.
-
(1999)
Association for Research in Otolaryngology
, pp. 11-99
-
-
Oshima, T.1
Ikeda, K.2
Ueda, N.3
-
217
-
-
0002629236
-
Mitochondrial Encephalomyopathies
-
Rosenberg R.N., Prusiner S.B., DiMauro S., and Barchi R.L. (Eds), Butterworth-Heinemann, Boston
-
DiMauro S., and Bonilla E. Mitochondrial Encephalomyopathies. In: Rosenberg R.N., Prusiner S.B., DiMauro S., and Barchi R.L. (Eds). The Molecular and Genetic Basis of Neurological Disease. (1997), Butterworth-Heinemann, Boston 201-235
-
(1997)
The Molecular and Genetic Basis of Neurological Disease.
, pp. 201-235
-
-
DiMauro, S.1
Bonilla, E.2
-
218
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
-
Estivill X., Govea N., Barcelo E., et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62 (1998) 27-35
-
(1998)
Am J Hum Genet
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barcelo, E.3
-
219
-
-
0033911449
-
Candidate locus for a nuclear modifier gene for maternally inherited deafness
-
Bykhovskaya Y., Estivill X., Taylor K., et al. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am J Hum Genet 66 (2000) 1905-1910
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1905-1910
-
-
Bykhovskaya, Y.1
Estivill, X.2
Taylor, K.3
-
220
-
-
0030016359
-
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet 5 (1996) 963-971
-
(1996)
Hum Mol Genet
, vol.5
, pp. 963-971
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
221
-
-
0033976931
-
The spectrum of hearing loss due to mitochondrial DNA defects
-
Chinnery P.F., Elliot C., Green G.R., et al. The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123 (2000) 82-92
-
(2000)
Brain
, vol.123
, pp. 82-92
-
-
Chinnery, P.F.1
Elliot, C.2
Green, G.R.3
-
222
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia, and complete heart block; unusual syndrome with histologic study in one of two cases
-
Kearns T.P., and Sayre G.P. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block; unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 60 (1958) 280-289
-
(1958)
Arch Ophthalmol
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
223
-
-
0020369851
-
The atypical pigmentary retinopathy of Kearns-Sayre syndrome
-
Eagle R.C., Hedges T.R., and Yanoff M. The atypical pigmentary retinopathy of Kearns-Sayre syndrome. Ophthalmology 89 (1982) 1433-1440
-
(1982)
Ophthalmology
, vol.89
, pp. 1433-1440
-
-
Eagle, R.C.1
Hedges, T.R.2
Yanoff, M.3
-
224
-
-
0022344135
-
The retinal manifestations of mitochondrial myopathy
-
Mullie M.A., Harding A.E., Petty R.K.H., et al. The retinal manifestations of mitochondrial myopathy. Arch Ophthalmol 103 (1985) 1825-1830
-
(1985)
Arch Ophthalmol
, vol.103
, pp. 1825-1830
-
-
Mullie, M.A.1
Harding, A.E.2
Petty, R.K.H.3
-
226
-
-
0027213773
-
Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndrome
-
Chang T.S., Johns D.R., Walker D., et al. Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndrome. Arch Ophthalmol 111 (1993) 1254-1262
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1254-1262
-
-
Chang, T.S.1
Johns, D.R.2
Walker, D.3
-
227
-
-
0029939378
-
Clinical presentations and laboratory investigations in respiratory chain deficiency
-
Munnich A., Rotig A., Chretien D., et al. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Paediatr 155 (1996) 262-274
-
(1996)
Eur J Paediatr
, vol.155
, pp. 262-274
-
-
Munnich, A.1
Rotig, A.2
Chretien, D.3
-
228
-
-
0032211250
-
Mitochondrial DNA in idiopathic cardiomyopathy
-
Turner L.F., Kaddoura S., Harrington D., et al. Mitochondrial DNA in idiopathic cardiomyopathy. Eur Heart J 19 (1998) 1725-1729
-
(1998)
Eur Heart J
, vol.19
, pp. 1725-1729
-
-
Turner, L.F.1
Kaddoura, S.2
Harrington, D.3
-
229
-
-
0027335882
-
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
-
Moraes C.T., Ciacci F., Silvestri G., et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 3 (1993) 43-50
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
-
230
-
-
0028355321
-
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
-
Pastores G.M., Santorelli F.M., Shanske S., et al. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet 50 (1994) 265-271
-
(1994)
Am J Med Genet
, vol.50
, pp. 265-271
-
-
Pastores, G.M.1
Santorelli, F.M.2
Shanske, S.3
-
231
-
-
0028849791
-
Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia
-
Takei Y., Ikeda S., Yanagisawa N., et al. Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia. Muscle Nerve 18 (1995) 1321-1325
-
(1995)
Muscle Nerve
, vol.18
, pp. 1321-1325
-
-
Takei, Y.1
Ikeda, S.2
Yanagisawa, N.3
-
232
-
-
0026463567
-
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
-
Soumalainen A., Paetau A., Leinonen H., et al. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 340 (1992) 1319-1320
-
(1992)
Lancet
, vol.340
, pp. 1319-1320
-
-
Soumalainen, A.1
Paetau, A.2
Leinonen, H.3
-
233
-
-
0029996721
-
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S., Tanji K., Santorelli F.M., et al. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 46 (1996) 1329-1334
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.M.3
-
234
-
-
0016838747
-
Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise
-
Sengers R.C., Trijbels J.M., Willems J.L., et al. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Paediatr 86 (1975) 873-880
-
(1975)
J Paediatr
, vol.86
, pp. 873-880
-
-
Sengers, R.C.1
Trijbels, J.M.2
Willems, J.L.3
-
235
-
-
0003668905
-
Adenine nucleotide translocator deficiency in a patient with fatal congenital cardiomyopathy, cataract and mitochondrial myopathy
-
Smeitink J., Huizing M., Ruitenbeek W., et al. Adenine nucleotide translocator deficiency in a patient with fatal congenital cardiomyopathy, cataract and mitochondrial myopathy. J Inherit Metab Dis 20 (1997) 7
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 7
-
-
Smeitink, J.1
Huizing, M.2
Ruitenbeek, W.3
-
236
-
-
0033365348
-
A third locus predisposing to multiple deletions mtDNA in autosomal dominant progressive external ophthalmoplegia
-
Kaukonen J., Zeviani M., Comi G.P., et al. A third locus predisposing to multiple deletions mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65 (1999) 256-261
-
(1999)
Am J Hum Genet
, vol.65
, pp. 256-261
-
-
Kaukonen, J.1
Zeviani, M.2
Comi, G.P.3
-
237
-
-
0031011211
-
A mouse model for mitochondrial myopathy and car-diomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham B.H., Waymire K.G., Cottrell B., et al. A mouse model for mitochondrial myopathy and car-diomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 16 (1997) 226-234
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
-
238
-
-
0018712317
-
A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
-
Pearson H.A., Lobel J.S., Kocoshis S.A., et al. A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Paediatr 95 (1979) 976-984
-
(1979)
J Paediatr
, vol.95
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
-
239
-
-
0024590185
-
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome
-
Rotig A., Colonna M., Bonnefont J.P., et al. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1 (1989) 902-903
-
(1989)
Lancet
, vol.1
, pp. 902-903
-
-
Rotig, A.1
Colonna, M.2
Bonnefont, J.P.3
-
240
-
-
0027497228
-
Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
-
Bernes S.M., Bacino C., Prezant T.R., et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Paediatr 123 (1993) 598-602
-
(1993)
J Paediatr
, vol.123
, pp. 598-602
-
-
Bernes, S.M.1
Bacino, C.2
Prezant, T.R.3
-
241
-
-
0029147133
-
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
-
Rotig A., Bourgeron T., Chretien D., et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4 (1995) 1327-1330
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1327-1330
-
-
Rotig, A.1
Bourgeron, T.2
Chretien, D.3
-
242
-
-
0025345775
-
Progressive increase of the mutated mitochondrial DNA fraction in the Kearns-Sayre syndrome
-
Larsson N.G., Holme E., Kristiansson B., et al. Progressive increase of the mutated mitochondrial DNA fraction in the Kearns-Sayre syndrome. Paediatr Res 28 (1990) 131-136
-
(1990)
Paediatr Res
, vol.28
, pp. 131-136
-
-
Larsson, N.G.1
Holme, E.2
Kristiansson, B.3
-
243
-
-
0030001270
-
A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia
-
Gattermann N., Retzlaff S., Wang Y.L., et al. A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia. Br J Haematol 93 (1996) 845-855
-
(1996)
Br J Haematol
, vol.93
, pp. 845-855
-
-
Gattermann, N.1
Retzlaff, S.2
Wang, Y.L.3
-
244
-
-
0031467871
-
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anaemia
-
Gattermann N., Retzlaff S., Wang Y.L., et al. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anaemia. Br J Haematol 90 (1997) 4961-4972
-
(1997)
Br J Haematol
, vol.90
, pp. 4961-4972
-
-
Gattermann, N.1
Retzlaff, S.2
Wang, Y.L.3
-
245
-
-
0030922559
-
A novel form of hereditary sideroblastic anaemia with macrocytosis
-
Tuckfield A., Ratnaike S., Hussein S., et al. A novel form of hereditary sideroblastic anaemia with macrocytosis. Br J Haematol 97 (1997) 279-285
-
(1997)
Br J Haematol
, vol.97
, pp. 279-285
-
-
Tuckfield, A.1
Ratnaike, S.2
Hussein, S.3
-
246
-
-
0028109484
-
Multiple deletions of mtDNA in two brothers with sideroblastic anaemia and mitochondrial myopathy and in their asymptomatic mother
-
Casademont J., Barrientos A., Cardellach F., et al. Multiple deletions of mtDNA in two brothers with sideroblastic anaemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 3 (1994) 1945-1949
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1945-1949
-
-
Casademont, J.1
Barrientos, A.2
Cardellach, F.3
-
247
-
-
0028817474
-
Myopathy, lactic acidosis, and sideroblastic anaemia: a new syndrome
-
Inbal A., Avissar N., Shaklai M., et al. Myopathy, lactic acidosis, and sideroblastic anaemia: a new syndrome. Am J Med Genet 55 (1995) 372-378
-
(1995)
Am J Med Genet
, vol.55
, pp. 372-378
-
-
Inbal, A.1
Avissar, N.2
Shaklai, M.3
-
248
-
-
0029999205
-
Renal involvement in mitochondrial cytopathies
-
Niaudet P., and Rotig A. Renal involvement in mitochondrial cytopathies. Paediatr Nephrol 10 (1996) 268-373
-
(1996)
Paediatr Nephrol
, vol.10
, pp. 268-373
-
-
Niaudet, P.1
Rotig, A.2
-
249
-
-
0025314193
-
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome
-
Goto Y., Itami N., Kajii N., et al. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. J Paediatr 116 (1990) 904-910
-
(1990)
J Paediatr
, vol.116
, pp. 904-910
-
-
Goto, Y.1
Itami, N.2
Kajii, N.3
-
250
-
-
0027474253
-
Mitochondrial gene mutation and insulin-dependent type of diabetes mellitus
-
Kadowaki H., Tobe K., Mori Y., et al. Mitochondrial gene mutation and insulin-dependent type of diabetes mellitus. Lancet 341 (1993) 893-894
-
(1993)
Lancet
, vol.341
, pp. 893-894
-
-
Kadowaki, H.1
Tobe, K.2
Mori, Y.3
-
251
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
Rotig A., Cormier V., Chatelain P., et al. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91 (1993) 1095-1098
-
(1993)
J Clin Invest
, vol.91
, pp. 1095-1098
-
-
Rotig, A.1
Cormier, V.2
Chatelain, P.3
-
252
-
-
13344260008
-
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
-
Barrientos A., Volpini V., Casademont J., et al. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 97 (1996) 1570-1576
-
(1996)
J Clin Invest
, vol.97
, pp. 1570-1576
-
-
Barrientos, A.1
Volpini, V.2
Casademont, J.3
-
253
-
-
0030843425
-
A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy
-
Verma A., Picolli D.A., Bonilla E., et al. A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Pediatr Res 42 (1997) 448-454
-
(1997)
Pediatr Res
, vol.42
, pp. 448-454
-
-
Verma, A.1
Picolli, D.A.2
Bonilla, E.3
-
254
-
-
0028156783
-
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
-
Cormier Daire V., Bonnefont J.P., Rustin P., et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 124 (1994) 63-70
-
(1994)
J Pediatr
, vol.124
, pp. 63-70
-
-
Cormier Daire, V.1
Bonnefont, J.P.2
Rustin, P.3
-
255
-
-
0030817294
-
Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
-
Cormier Daire V., Chretien D., Rustin P., et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 130 (1997) 817-822
-
(1997)
J Pediatr
, vol.130
, pp. 817-822
-
-
Cormier Daire, V.1
Chretien, D.2
Rustin, P.3
-
256
-
-
0028952052
-
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients
-
Jackson M.J., Schaefer J.A., Johnson M.A., et al. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain 118 (1995) 339-357
-
(1995)
Brain
, vol.118
, pp. 339-357
-
-
Jackson, M.J.1
Schaefer, J.A.2
Johnson, M.A.3
-
257
-
-
0019415904
-
Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease)
-
Schwartz W.J., Hutchinson H.T., and Berg B.O. Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol 10 (1981) 268-271
-
(1981)
Ann Neurol
, vol.10
, pp. 268-271
-
-
Schwartz, W.J.1
Hutchinson, H.T.2
Berg, B.O.3
-
258
-
-
0022497643
-
Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh disease)
-
Koch T.K., Yee M.H., Hutchinson H.T., et al. Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol 19 (1986) 605-607
-
(1986)
Ann Neurol
, vol.19
, pp. 605-607
-
-
Koch, T.K.1
Yee, M.H.2
Hutchinson, H.T.3
-
260
-
-
0032471372
-
Neuroradiologic findings in children with mitochondrial disorders
-
Valanne L., Ketonen L., Majander A., et al. Neuroradiologic findings in children with mitochondrial disorders. Am J Neuroradiol 19 (1998) 369-377
-
(1998)
Am J Neuroradiol
, vol.19
, pp. 369-377
-
-
Valanne, L.1
Ketonen, L.2
Majander, A.3
-
261
-
-
0025968255
-
In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondrial disease
-
Matthews P.M., Allaire C., Shoubridge E.A., et al. In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondrial disease. Neurology 41 (1991) 114-120
-
(1991)
Neurology
, vol.41
, pp. 114-120
-
-
Matthews, P.M.1
Allaire, C.2
Shoubridge, E.A.3
-
262
-
-
0025785934
-
EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases
-
Tukinius M.H., and Hagne I. EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases. Brain Dev 13 (1991) 167-173
-
(1991)
Brain Dev
, vol.13
, pp. 167-173
-
-
Tukinius, M.H.1
Hagne, I.2
-
263
-
-
0031053990
-
Peripheral neuropathy in mitochondrial encephalomyopathies
-
Chu C.C., Huang C.C., Fang W., et al. Peripheral neuropathy in mitochondrial encephalomyopathies. Eur Neurol 37 (1997) 110-115
-
(1997)
Eur Neurol
, vol.37
, pp. 110-115
-
-
Chu, C.C.1
Huang, C.C.2
Fang, W.3
-
264
-
-
0025673968
-
Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm in man without muscular disease: an age related alteration
-
Müller-Höcker J. Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm in man without muscular disease: an age related alteration. J Neurol Sci 100 (1990) 14-21
-
(1990)
J Neurol Sci
, vol.100
, pp. 14-21
-
-
Müller-Höcker, J.1
-
265
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
Santorelli F.M., Tanji K., Kulikova R., et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 238 (1997) 326-328
-
(1997)
Biochem Biophys Res Commun
, vol.238
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
-
266
-
-
0026682616
-
A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies
-
[Published erratum appears in pt following
-
Hammans S.R., Sweeney M.G., Wicks D.A., et al. A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. Brain 115 (1992) 343-365 [Published erratum appears in pt following
-
(1992)
Brain
, vol.115
, pp. 343-365
-
-
Hammans, S.R.1
Sweeney, M.G.2
Wicks, D.A.3
-
267
-
-
77957130405
-
-
Brain 116 1 (1993) 306
-
(1993)
Brain
, vol.116
, Issue.1
, pp. 306
-
-
-
268
-
-
0026022136
-
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region
-
Moraes C.T., Andreetta F., Bonilla E., et al. Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region. Mol Cell Biol 11 (1991) 1631-1642
-
(1991)
Mol Cell Biol
, vol.11
, pp. 1631-1642
-
-
Moraes, C.T.1
Andreetta, F.2
Bonilla, E.3
-
269
-
-
0026907560
-
Molecular analysis of muscle pathology associated with the mitochondrial DNA deletions
-
Moraes C.T., Ricci E., Petruzella V., et al. Molecular analysis of muscle pathology associated with the mitochondrial DNA deletions. Nat Genet 1 (1992) 359-367
-
(1992)
Nat Genet
, vol.1
, pp. 359-367
-
-
Moraes, C.T.1
Ricci, E.2
Petruzella, V.3
-
270
-
-
0025276996
-
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fibre segments in mitochondrial disease
-
Shoubridge E.A., Karpati G., and Hastings K. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fibre segments in mitochondrial disease. Cell 62 (1990) 43
-
(1990)
Cell
, vol.62
, pp. 43
-
-
Shoubridge, E.A.1
Karpati, G.2
Hastings, K.3
-
271
-
-
0023237333
-
Morphological observations in skeletal muscle from patients with a mitochondrial myopathy
-
Stadhouders A.M., and Sengers R.C. Morphological observations in skeletal muscle from patients with a mitochondrial myopathy. J Inherit Metab Dis 10 1 (1987) 62-80
-
(1987)
J Inherit Metab Dis
, vol.10
, Issue.1
, pp. 62-80
-
-
Stadhouders, A.M.1
Sengers, R.C.2
-
273
-
-
0026718556
-
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle
-
Moraes C.T., Ricci E., Bonilla E., et al. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 50 (1992) 934-949
-
(1992)
Am J Hum Genet
, vol.50
, pp. 934-949
-
-
Moraes, C.T.1
Ricci, E.2
Bonilla, E.3
-
274
-
-
0026090209
-
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study
-
Bindoff L.A., Desnuelle C., Birch-Machin A., et al. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci 102 (1991) 17-24
-
(1991)
J Neurol Sci
, vol.102
, pp. 17-24
-
-
Bindoff, L.A.1
Desnuelle, C.2
Birch-Machin, A.3
-
275
-
-
0026042096
-
Genetic, biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)
-
Seibel P., Degoul F., Bonne G., et al. Genetic, biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci 105 (1991) 217-224
-
(1991)
J Neurol Sci
, vol.105
, pp. 217-224
-
-
Seibel, P.1
Degoul, F.2
Bonne, G.3
-
276
-
-
0023820495
-
1 complex in mitochondrial disease
-
1 complex in mitochondrial disease. J Bioenerg Biomembr 20 (1988) 325-352
-
(1988)
J Bioenerg Biomembr
, vol.20
, pp. 325-352
-
-
Kennaway, N.G.1
|