-
1
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993; 50: 1197-208.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
DiMauro, S.1
Moraes, C.T.2
-
2
-
-
0024328462
-
Mitochondrial DNA deletion in progressive external opthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF et al. Mitochondrial DNA deletion in progressive external opthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
-
3
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
De Bruijn, M.H.L.4
Coulson, A.R.5
Drouin, J.6
-
4
-
-
0026587335
-
Mitochondrial genetics: A paradigm for aging and degenerative diseases?
-
Wallace DC. Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science 1992; 256: 628-32.
-
(1992)
Science
, vol.256
, pp. 628-632
-
-
Wallace, D.C.1
-
5
-
-
0029125857
-
Aging, energy and oxidative stress in neurodegenerative diseases
-
Beal MF. Aging, energy and oxidative stress in neurodegenerative diseases. Ann Neurol 1995; 38: 357-66.
-
(1995)
Ann Neurol
, vol.38
, pp. 357-366
-
-
Beal, M.F.1
-
6
-
-
0030090823
-
Clinical spectrum of mitochondrial diseases
-
Fadic R, Johns DR. Clinical spectrum of mitochondrial diseases. Semin Neurol 1996; 16: 11-20.
-
(1996)
Semin Neurol
, vol.16
, pp. 11-20
-
-
Fadic, R.1
Johns, D.R.2
-
7
-
-
0029743399
-
Mitochondrial encephalomyopathies: What next?
-
DiMauro S. Mitochondrial encephalomyopathies: What next? J Inherit Metab Dis 1996; 19: 489-503.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 489-503
-
-
DiMauro, S.1
-
9
-
-
0011906872
-
Bioenergetics and oxidative metabolism
-
Devlin TM, Aktipis S, Angstadt CN (eds). New York, USA: Willey-Lis
-
Olson MS. Bioenergetics and oxidative metabolism. In: Devlin TM, Aktipis S, Angstadt CN (eds). Textbook of Biochemistry: with clinical correlations. New York, USA: Willey-Lis 1992: 237-87.
-
(1992)
Textbook of Biochemistry: With Clinical Correlations
, pp. 237-287
-
-
Olson, M.S.1
-
10
-
-
0025180756
-
A mitochondrial machinery for membrane traslocation of precursor proteins
-
Pfanner N, Neupert W. A mitochondrial machinery for membrane traslocation of precursor proteins. Biochem Soc Trans 1990; 18: 513-5.
-
(1990)
Biochem Soc Trans
, vol.18
, pp. 513-515
-
-
Pfanner, N.1
Neupert, W.2
-
11
-
-
0026002054
-
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical morphologic and biochemical studies
-
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical morphologic and biochemical studies. Neurology 1991; 41: 1053-9.
-
(1991)
Neurology
, vol.41
, pp. 1053-1059
-
-
Servidei, S.1
Zeviani, M.2
Manfredi, G.3
Ricci, E.4
Silvestri, G.5
Bertini, E.6
-
13
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61: 1175-212.
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
14
-
-
0025828342
-
Mitochondrial DNA deletions in inherited recurrent myoglobinuria
-
Ohno K, Tanaka M, Sahashi K. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 1991; 29: 364-9.
-
(1991)
Ann Neurol
, vol.29
, pp. 364-369
-
-
Ohno, K.1
Tanaka, M.2
Sahashi, K.3
-
15
-
-
0025250482
-
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
-
Zeviani M, Bresolin N, Gallera C. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47: 904-14.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 904-914
-
-
Zeviani, M.1
Bresolin, N.2
Gallera, C.3
-
16
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servendi S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servendi, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
17
-
-
0026015896
-
MtDNa depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler HJ. MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
-
18
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic function
-
Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic function. J Pediatr 1979; 95: 976.
-
(1979)
J Pediatr
, vol.95
, pp. 976
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
Naiman, J.L.4
Windmiller, J.5
Lammi, A.T.6
-
19
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequinot E et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995; 11: 144-9.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Viegas-Pequinot, E.6
-
20
-
-
85013551650
-
Mitochondrial myopathies: Biochemical aspects
-
Shanske S, DiMauro S. Mitochondrial myopathies: Biochemical aspects. Curr Top Bioener 1994; 17: 21-58.
-
(1994)
Curr Top Bioener
, vol.17
, pp. 21-58
-
-
Shanske, S.1
DiMauro, S.2
-
21
-
-
0030577222
-
Maternal inheritance and the evaluation of oxidative phosphorylation diseases
-
Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases, lancet 1996; 348: 1283-88
-
(1996)
Lancet
, vol.348
, pp. 1283-1288
-
-
Shoffner, J.M.1
-
22
-
-
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. 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 1962; 41: 1776-804.
-
(1962)
J Clin Invest
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
-
23
-
-
0017346294
-
Mitochondrial encephalopathy: A group of neuromuscular disorders with defects in oxidative metabolism
-
Shapira Y, Harel S, Russell A. Mitochondrial encephalopathy: a group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci 1977; 13: 161-4.
-
(1977)
Isr J Med Sci
, vol.13
, pp. 161-164
-
-
Shapira, Y.1
Harel, S.2
Russell, A.3
-
24
-
-
0019795278
-
Mytochondrial cytopathy. A multisystem disorder with ragged-red fibers on muscle biopsy
-
Egger J, Lake BD, Wilson J. Mytochondrial cytopathy. A multisystem disorder with ragged-red fibers on muscle biopsy. Arch Dis Child 1981; 56: 741-52.
-
(1981)
Arch Dis Child
, vol.56
, pp. 741-752
-
-
Egger, J.1
Lake, B.D.2
Wilson, J.3
-
25
-
-
0021798888
-
Mitochondrial myopathies
-
DiMauro S, Bonilla E, Zeviani M, Nakawaga M, DeVivo DC. Mitochondrial myopathies. Ann Neurol 1985; 17: 521-38.
-
(1985)
Ann Neurol
, vol.17
, pp. 521-538
-
-
DiMauro, S.1
Bonilla, E.2
Zeviani, M.3
Nakawaga, M.4
DeVivo, D.C.5
-
26
-
-
0014300876
-
Ophtalmoplegia-plus: The neurodegenerative disorders associated with progressive external ophtalmoplegia
-
Drachman DA. Ophtalmoplegia-plus: The neurodegenerative disorders associated with progressive external ophtalmoplegia. Arch Neurol 1968; 18: 654.
-
(1968)
Arch Neurol
, vol.18
, pp. 654
-
-
Drachman, D.A.1
-
27
-
-
0017338735
-
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?
-
Berenberg RA, Pellock JM, DiMauro S et al. Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann Neurol 1977; 1: 37-54.
-
(1977)
Ann Neurol
, vol.1
, pp. 37-54
-
-
Berenberg, R.A.1
Pellock, J.M.2
DiMauro, S.3
-
28
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myophaties
-
Holt IJ, Miller DH, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myophaties. Nature 1988; 331: 717-9.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Miller, D.H.2
Harding, A.E.3
Morgan-Hughes, J.A.4
-
29
-
-
0026061191
-
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: Chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy
-
Kosmorsky C, Johns DR. Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: Chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. Neurol Clin 1991; 9: 147-61.
-
(1991)
Neurol Clin
, vol.9
, pp. 147-161
-
-
Kosmorsky, C.1
Johns, D.R.2
-
30
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia and complete heart block: Unusual syndrome with histologic study in one of two cases
-
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block: unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 1958; 60: 280-9.
-
(1958)
Arch Ophthalmol
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
31
-
-
0030727194
-
Ophthalmic eponyms from the Mayo Clinic
-
Bartley GB. Ophthalmic eponyms from the Mayo Clinic. Mayo Clin Proc 1997; 72: 990-5.
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 990-995
-
-
Bartley, G.B.1
-
32
-
-
0026800561
-
Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts
-
Poll-The BT, Billette de Villemeur T, Abitbol M, Dufier JL, Saudubray JM. Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts. Eur J Pediatr 1992; 151: 2-11.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 2-11
-
-
Poll-The, B.T.1
Billette De Villemeur, T.2
Abitbol, M.3
Dufier, J.L.4
Saudubray, J.M.5
-
33
-
-
0031932272
-
Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation
-
Isashiki Y, Nakagawa M, Ohba N, Kamimura K, Sakoda Y, Higuchi I, Izumo S, Osame M. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. Acta Ophthalmol Scand 1998; 76: 6-13.
-
(1998)
Acta Ophthalmol Scand
, vol.76
, pp. 6-13
-
-
Isashiki, Y.1
Nakagawa, M.2
Ohba, N.3
Kamimura, K.4
Sakoda, Y.5
Higuchi, I.6
Izumo, S.7
Osame, M.8
-
34
-
-
0029638664
-
Mitochondrial DNA and disease
-
Johns DR. Mitochondrial DNA and disease. N Eng J Med 1995; 333: 638-44.
-
(1995)
N Eng J Med
, vol.333
, pp. 638-644
-
-
Johns, D.R.1
-
35
-
-
0020826554
-
Molecular genetics, pseudogenetics and clinical neurology
-
Cleveland
-
Rowland LR Molecular genetics, pseudogenetics and clinical neurology. Neurology (Cleveland) 1983; 33: 1179-95.
-
(1983)
Neurology
, vol.33
, pp. 1179-1195
-
-
Rowland, L.R.1
-
36
-
-
0020472199
-
Kearns syndrome: A heterogeneous group of disorders with CPEO, or a nosological entity?
-
Bastiaensen LAK, Frenken CWGM, Ter Laak HJ, Jaspar HH, Stadhouders AM, Ruitenbeek W, Veerkamp JH. Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity? Doc Ophthalmol 1982; 52: 207-55.
-
(1982)
Doc Ophthalmol
, vol.52
, pp. 207-255
-
-
Bastiaensen, L.A.K.1
Frenken, C.W.G.M.2
Ter Laak, H.J.3
Jaspar, H.H.4
Stadhouders, A.M.5
Ruitenbeek, W.6
Veerkamp, J.H.7
-
37
-
-
0020661249
-
Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphological and biochemical studies
-
Mitsumoto H, Aprille JR, Wray SH, Nemni R, Bradley WG. Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphological and biochemical studies. Neurology 1983; 33: 452-61.
-
(1983)
Neurology
, vol.33
, pp. 452-461
-
-
Mitsumoto, H.1
Aprille, J.R.2
Wray, S.H.3
Nemni, R.4
Bradley, W.G.5
-
38
-
-
0020619577
-
A partial deficiency of cytochrome c oxidase in chronic progressive ophthalmoplegia
-
Johnson MA, Turnbull DM, Dick DJ, Sherrat HSA. A partial deficiency of cytochrome c oxidase in chronic progressive ophthalmoplegia. J Neurol Sci 1983; 60: 31-53.
-
(1983)
J Neurol Sci
, vol.60
, pp. 31-53
-
-
Johnson, M.A.1
Turnbull, D.M.2
Dick, D.J.3
Sherrat, H.S.A.4
-
39
-
-
0021796659
-
Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia
-
Turnbull DM, Johnson MA, Dick DJ, Cartlidge NE, Sherratt HS. Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia. J Neurol Sci 1985; 70: 93-100.
-
(1985)
J Neurol Sci
, vol.70
, pp. 93-100
-
-
Turnbull, D.M.1
Johnson, M.A.2
Dick, D.J.3
Cartlidge, N.E.4
Sherratt, H.S.5
-
40
-
-
0022348869
-
Decreased activities in mitochondrial inner membrane electron transport from patients with Kearns-Sayre syndrome
-
Yorifuji S, Ogasahara S, Takahashi M, Tarui S. Decreased activities in mitochondrial inner membrane electron transport from patients with Kearns-Sayre syndrome. J Neurol Sci 1985; 71: 65-75.
-
(1985)
J Neurol Sci
, vol.71
, pp. 65-75
-
-
Yorifuji, S.1
Ogasahara, S.2
Takahashi, M.3
Tarui, S.4
-
41
-
-
0023814220
-
Les myopathies mitochondriales
-
Eymard B. Les myopathies mitochondriales. Rev Prat (Paris) 1988; 38: 1522-8..
-
(1988)
Rev Prat (Paris)
, vol.38
, pp. 1522-1528
-
-
Eymard, B.1
-
42
-
-
18844466863
-
Bloqueo atrioventricular en el síndrome de Kearns-Sayre
-
Pedrote A, Varela JM, Sánchez A, Gil-Neciga E, Acosta D, Errazquín F, Burgos J. Bloqueo atrioventricular en el síndrome de Kearns-Sayre. Rev Esp Cardiol 1990; 43: 192-4.
-
(1990)
Rev Esp Cardiol
, vol.43
, pp. 192-194
-
-
Pedrote, A.1
Varela, J.M.2
Sánchez, A.3
Gil-Neciga, E.4
Acosta, D.5
Errazquín, F.6
Burgos, J.7
-
43
-
-
0025295125
-
Kearns-Sayre syndrome in the elderly: Mitochondrial myopathy with advanced heart block
-
Kenny D, Wetherbee J. Kearns-Sayre syndrome in the elderly: Mitochondrial myopathy with advanced heart block. An Heart L 1990; 120: 440-3.
-
(1990)
An Heart L
, vol.120
, pp. 440-443
-
-
Kenny, D.1
Wetherbee, J.2
-
44
-
-
0028918471
-
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects
-
Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91: 955-61.
-
(1995)
Circulation
, vol.91
, pp. 955-961
-
-
Anan, R.1
Nakagawa, M.2
Miyata, M.3
Higuchi, I.4
Nakao, S.5
Suehara, M.6
-
45
-
-
0345698798
-
The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome
-
Hocker-Muller J, Jacob U, Seibel P. The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome. Mod Pathol 1998; 11: 295-301.
-
(1998)
Mod Pathol
, vol.11
, pp. 295-301
-
-
Hocker-Muller, J.1
Jacob, U.2
Seibel, P.3
-
46
-
-
0031594759
-
Mtochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid
-
Tengan CH, Kiyomoto BH, Rochas MS, Tavares VL, Gabbai AA, Moraes CT. Mtochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. J Clin Endocrinol Metab 1998; 83: 125-9.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 125-129
-
-
Tengan, C.H.1
Kiyomoto, B.H.2
Rochas, M.S.3
Tavares, V.L.4
Gabbai, A.A.5
Moraes, C.T.6
-
47
-
-
0029661640
-
The influence of coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre syndrome and hypoparathyroidism
-
Papadimitriou A, Hadjigeorgiou GM, Divari R, Papagalanis N, Comi G, Bresolin N. The influence of coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre syndrome and hypoparathyroidism. Neuromusc Disord 1996; 6: 49-53.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 49-53
-
-
Papadimitriou, A.1
Hadjigeorgiou, G.M.2
Divari, R.3
Papagalanis, N.4
Comi, G.5
Bresolin, N.6
-
49
-
-
0020369604
-
Mitochondrial cytopathy or Leigh's syndrome: Mitochondrial abnormalities in spongiform encephalophaties
-
Egger RC, Wynne-Williams CJ, Erdchazi M. Mitochondrial cytopathy or Leigh's syndrome: Mitochondrial abnormalities in spongiform encephalophaties. Neuropediatrics 1982; 13: 219-24.
-
(1982)
Neuropediatrics
, vol.13
, pp. 219-224
-
-
Egger, R.C.1
Wynne-Williams, C.J.2
Erdchazi, M.3
-
50
-
-
0018885541
-
Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or syndrome? Light and electronmicroscopic studies of two cases and review of the literature
-
Fukuhara N, Tokiguchi S, Shirakawa S, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or syndrome? Light and electronmicroscopic studies of two cases and review of the literature. J Neurol Sci 1980; 47: 117-33.
-
(1980)
J Neurol Sci
, vol.47
, pp. 117-133
-
-
Fukuhara, N.1
Tokiguchi, S.2
Shirakawa, S.3
Tsubaki, T.4
-
51
-
-
0021929746
-
Maternally inherited mitochondrial myophaty and myoclonic epilepsy
-
Rosing HS, Hopkins LC, Wallace DC. Maternally inherited mitochondrial myophaty and myoclonic epilepsy. Ann Neurol 1985; 17: 228-37.
-
(1985)
Ann Neurol
, vol.17
, pp. 228-237
-
-
Rosing, H.S.1
Hopkins, L.C.2
Wallace, D.C.3
-
52
-
-
0027415727
-
Progressive myoclonus epilepsies: An electroclinical, biochemical, morphological and molecular genetic study of 17 cases
-
Franceschetti S, Antozzi C, Binelli, Carrara F, Nardocci N, Zeviani M, Avanzini C. Progressive myoclonus epilepsies: An electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 1993; 87: 219-23.
-
(1993)
Acta Neurol Scand
, vol.87
, pp. 219-223
-
-
Franceschetti, S.1
Antozzi, C.2
Binelli3
Carrara, F.4
Nardocci, N.5
Zeviani, M.6
Avanzini, C.7
-
53
-
-
0027417099
-
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder
-
De Vries DD, de Wijs IJ, Wolff G, Ketelsen UP, Ropers HH, van Oost BA. X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. Hum Genet 1993; 91: 51-4.
-
(1993)
Hum Genet
, vol.91
, pp. 51-54
-
-
De Vries, D.D.1
De Wijs, I.J.2
Wolff, G.3
Ketelsen, U.P.4
Ropers, H.H.5
Van Oost, B.A.6
-
54
-
-
0027190874
-
Clinical features associated with the a → G transition al nucleotide 8344 of mtDNa ("MERRF mutation")
-
Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Suni M, DiMauro S. Clinical features associated with the A → G transition al nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993; 43: 1200-6.
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
Shanske, S.4
Servidei, S.5
Graf, W.D.6
Suni, M.7
DiMauro, S.8
-
55
-
-
0027335882
-
Atypical clinical presentation associated with de MELAS mutation al position 3243 of human mitochondrial DNA
-
Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Atypical clinical presentation associated with de MELAS mutation al position 3243 of human mitochondrial DNA. Neuromusc Disord 1993; 3: 43-50.
-
(1993)
Neuromusc Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
Shanske, S.4
Sciacco, M.5
Hirano, M.6
Schon, E.A.7
Bonilla, E.8
DiMauro, S.9
-
56
-
-
0027318529
-
Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relative of MELAS patients in a family with the tRNA(Leu(UUR)) mutation
-
Remes AM, Majamaa K, Herva R, Hassinen IE. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relative of MELAS patients in a family with the tRNA(Leu(UUR)) mutation. Neurology 1993; 43: 1015-20.
-
(1993)
Neurology
, vol.43
, pp. 1015-1020
-
-
Remes, A.M.1
Majamaa, K.2
Herva, R.3
Hassinen, I.E.4
-
58
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neurophathy
-
Wallace DC, Singh G, Lott MT. Mitochondrial DNA mutation associated with Leber's hereditary optic neurophathy. Science 1988; 242: 1427-30.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
59
-
-
0028949749
-
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNa mutation
-
Riordan-Eva P, Sanders MD, Govan GG. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-37.
-
(1995)
Brain
, vol.118
, pp. 319-337
-
-
Riordan-Eva, P.1
Sanders, M.D.2
Govan, G.G.3
-
60
-
-
0027180961
-
Leber's hereditary optic neuropathy: New genetic considerations
-
Newman NJ. Leber's hereditary optic neuropathy: new genetic considerations. Arch Neurol 1993; 50: 540-8.
-
(1993)
Arch Neurol
, vol.50
, pp. 540-548
-
-
Newman, N.J.1
-
61
-
-
0028227936
-
Mitochondrial encephalomyopathies: Clinical and molecular analysis
-
Schon EA, Hirano M, DiMauro S. Mitochondrial encephalomyopathies: clinical and molecular analysis. J Bioenerg Biomembr 1994; 26: 291-9.
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 291-299
-
-
Schon, E.A.1
Hirano, M.2
DiMauro, S.3
-
63
-
-
0345992934
-
Expanding the phenotype of the 8344 t RNAlys mitochondrial DNA mutation
-
Austin SG, Thandroyen FT, Hecht JT, Vriesendorp FJ, Jones OW, Johns DR. Expanding the phenotype of the 8344 t RNAlys mitochondrial DNA mutation. Neurology 1994; 44: Supl 2: A403.
-
(1994)
Neurology
, vol.44
, Issue.2 SUPL
-
-
Austin, S.G.1
Thandroyen, F.T.2
Hecht, J.T.3
Vriesendorp, F.J.4
Jones, O.W.5
Johns, D.R.6
-
64
-
-
0031040049
-
Syndrome de Kearns-Sayre. Une indication rare d'implantation prophylactique de pacemaker
-
Lewy P, Leroy G, Haiat R, Halphen C, Kerrad L, Sander M, Weingrod M. Syndrome de Kearns-Sayre. Une indication rare d'implantation prophylactique de pacemaker. Arch Mal Coeur 1997; 90: 93-7.
-
(1997)
Arch Mal Coeur
, vol.90
, pp. 93-97
-
-
Lewy, P.1
Leroy, G.2
Haiat, R.3
Halphen, C.4
Kerrad, L.5
Sander, M.6
Weingrod, M.7
-
65
-
-
0023188495
-
Prolapso mitral en un paciente con síndrome de Kearns-Sayre
-
Martínez JL, Bello L, Casariego JR, Mazón P, Vigil-Escalera P, Rodríguez A. Prolapso mitral en un paciente con síndrome de Kearns-Sayre. Rev Esp Cardiol 1987; 40: 60-2.
-
(1987)
Rev Esp Cardiol
, vol.40
, pp. 60-62
-
-
Martínez, J.L.1
Bello, L.2
Casariego, J.R.3
Mazón, P.4
Vigil-Escalera, P.5
Rodríguez, A.6
-
66
-
-
0030891867
-
Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia
-
Akaike M, Kawai H, Yokoi K, Kunishige M, Mine H, Nishida Y, Saito S. Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. Clin Cardiol 1997; 20: 239-43.
-
(1997)
Clin Cardiol
, vol.20
, pp. 239-243
-
-
Akaike, M.1
Kawai, H.2
Yokoi, K.3
Kunishige, M.4
Mine, H.5
Nishida, Y.6
Saito, S.7
-
67
-
-
0027174565
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) decreased in diastolic left ventricular function assessed by echocardiography
-
Suzuki Y, Harada K, Miura Y, Sato W, Hayasaka K, Kawamura K, Takada G. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) decreased in diastolic left ventricular function assessed by echocardiography. Pediatr Cardiol 1993; 14: 162-6.
-
(1993)
Pediatr Cardiol
, vol.14
, pp. 162-166
-
-
Suzuki, Y.1
Harada, K.2
Miura, Y.3
Sato, W.4
Hayasaka, K.5
Kawamura, K.6
Takada, G.7
-
68
-
-
0026906885
-
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type Il diabetes mellitus and deafness
-
Van den Ouweland JM, Lemkes PJ, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type Il diabetes mellitus and deafness. Nat Genet 1992; 1: 368-71.
-
(1992)
Nat Genet
, vol.1
, pp. 368-371
-
-
Van Den Ouweland, J.M.1
Lemkes, P.J.2
Ruitenbeek, W.3
Sandkuijl, L.A.4
De Vijlder, M.F.5
Struyvenberg, P.A.6
-
69
-
-
0026463740
-
Does the mitochondrial DNa play a role in the development of diabetes?
-
Gerbitz KD. Does the mitochondrial DNA play a role in the development of diabetes? Diabetologia 1992; 35: 1181-6.
-
(1992)
Diabetologia
, vol.35
, pp. 1181-1186
-
-
Gerbitz, K.D.1
-
71
-
-
0027275218
-
Wolfram syndrome: A mitochondrial mediated disorder
-
Bu X, Rotter Jl. Wolfram syndrome: a mitochondrial mediated disorder. Lancet 1993; 342: 598-600.
-
(1993)
Lancet
, vol.342
, pp. 598-600
-
-
Bu, X.1
Rotter, Jl.2
-
72
-
-
0029279957
-
DIDMOAD or Wolfram syndrome: A mitochondrial-mediated disorder?
-
Bezold R, Hofmann S, Jaksch M, Kaufhold P, Gerbitz KD. DIDMOAD or Wolfram syndrome: a mitochondrial-mediated disorder? Diabetes Care 1995; 18: 583-4.
-
(1995)
Diabetes Care
, vol.18
, pp. 583-584
-
-
Bezold, R.1
Hofmann, S.2
Jaksch, M.3
Kaufhold, P.4
Gerbitz, K.D.5
-
73
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721-7.
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
Lombes, A.4
Minetti, C.5
Bonilla, E.6
-
74
-
-
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, Felgenhauer K, Friede RL, Goebel H et al. Myo-neuro-gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome c oxidase: A new mitochondrial multisystem disorder. Acta Neuropathol (Berl) 1987; 74: 248-58.
-
(1987)
Acta Neuropathol (Berl)
, vol.74
, pp. 248-258
-
-
Bardosi, A.1
Creutzfeldt, W.2
DiMauro, S.3
Felgenhauer, K.4
Friede, R.L.5
Goebel, H.6
-
75
-
-
0025128307
-
Polyneuropathy, ophthalmoplegia, leukoencephalopathy and intestinal pseudo-obstruction: POLIP syndrome
-
Simon L, Horoupian D, Dorfam L, Marks M, Herrick MK, Wasserstein P et al. Polyneuropathy, ophthalmoplegia, leukoencephalopathy and intestinal pseudo-obstruction: POLIP syndrome. Ann Neurol 1990; 28: 349-60.
-
(1990)
Ann Neurol
, vol.28
, pp. 349-360
-
-
Simon, L.1
Horoupian, D.2
Dorfam, L.3
Marks, M.4
Herrick, M.K.5
Wasserstein, P.6
-
76
-
-
0020567546
-
Oculogastrointestinal muscular dystrophy
-
Ionasescu V. Oculogastrointestinal muscular dystrophy. Am J Med Genet 1983; 15: 103-12.
-
(1983)
Am J Med Genet
, vol.15
, pp. 103-112
-
-
Ionasescu, V.1
-
77
-
-
0000511618
-
Progressive external ophthalplegia and ocular myopathies
-
Vinkens PJ, Bruyn GW, Klawans HL (eds). Amsterdam: Elsevier Science Publishers
-
Rowland LR Progressive external ophthalplegia and ocular myopathies. In: Vinkens PJ, Bruyn GW, Klawans HL (eds). Handbook of clinical neurology. Vol 62. Amsterdam: Elsevier Science Publishers, 1992: 287-329.
-
(1992)
Handbook of Clinical Neurology
, vol.62
, pp. 287-329
-
-
Rowland, L.R.1
-
78
-
-
0026602653
-
Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: A muscular biochemical study of a mitochondrial disorder
-
Li V, Hostein J, Romero N et al. Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: A muscular biochemical study of a mitochondrial disorder. Dig Dis Sci 1991; 37: 456-63.
-
(1991)
Dig Dis Sci
, vol.37
, pp. 456-463
-
-
Li, V.1
Hostein, J.2
Romero, N.3
-
79
-
-
0025765287
-
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy
-
Cormier T, Rötig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. Am J Human Genet 1991; 48: 643-8.
-
(1991)
Am J Human Genet
, vol.48
, pp. 643-648
-
-
Cormier, T.1
Rötig, A.2
Tardieu, M.3
Colonna, M.4
Saudubray, J.M.5
Munnich, A.6
-
80
-
-
24244454463
-
-
Trabajo presentado en el XXI Congreso Nacional de Genética Humana y 1er. Encuentro Latinoamericano de Bioética y Genoma Humano. Manzanillo, Col, México, 9 al 12 de octubre de
-
Gómez GM, Mutchinick O, Vega-Boada F, García-Ramos G, Romero V, Barrera-Ramírez CF et al. Encefalopatía mitocondrial neurogastrointestinal (MNCIE). Trabajo presentado en el XXI Congreso Nacional de Genética Humana y 1er. Encuentro Latinoamericano de Bioética y Genoma Humano. Manzanillo, Col, México, 9 al 12 de octubre de 1996.
-
(1996)
Encefalopatía Mitocondrial Neurogastrointestinal (MNCIE)
-
-
Gómez, G.M.1
Mutchinick, O.2
Vega-Boada, F.3
García-Ramos, G.4
Romero, V.5
Barrera-Ramírez, C.F.6
-
81
-
-
0028913194
-
Renal amino acid transport in adults with oxidative phosphorylalion diseases
-
Shoffner JM, Voljavec AS, Dixon J, Kaufman A, Wallace DC, Mitch WE. Renal amino acid transport in adults with oxidative phosphorylalion diseases. Kid Int 1995; 47: 1101-7.
-
(1995)
Kid Int
, vol.47
, pp. 1101-1107
-
-
Shoffner, J.M.1
Voljavec, A.S.2
Dixon, J.3
Kaufman, A.4
Wallace, D.C.5
Mitch, W.E.6
-
82
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). USA: McGraw-Hill
-
Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited disease. Vol I. USA: McGraw-Hill, 1995: 1535-609.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, vol.1
, pp. 1535-1609
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
83
-
-
0032507986
-
A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNa in blood cells during 6 years of follow-up
-
Mohri I, Taniike M, Fujimura, Matsuoka T, Inui K, Nagai T et al. A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up, J Neurol Sci 1998; 158: 106-9.
-
(1998)
J Neurol Sci
, vol.158
, pp. 106-109
-
-
Mohri, I.1
Taniike, M.2
Fujimura3
Matsuoka, T.4
Inui, K.5
Nagai, T.6
-
84
-
-
0027439920
-
Barth syndrome: Clinical features and confirmation of gene localization to distal Xq28
-
Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC. Barth syndrome: Clinical features and confirmation of gene localization to distal Xq28. Am J Med Genet 1993; 45: 327-34.
-
(1993)
Am J Med Genet
, vol.45
, pp. 327-334
-
-
Ades, L.C.1
Gedeon, A.K.2
Wilson, M.J.3
Latham, M.4
Partington, M.W.5
Mulley, J.C.6
-
85
-
-
0016512469
-
Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria
-
Bonilla E, Schotland DL, DiMauro S, Aldover B. Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria. J Ultraestruct Res 1975; 51: 404-8.
-
(1975)
J Ultraestruct Res
, vol.51
, pp. 404-408
-
-
Bonilla, E.1
Schotland, D.L.2
DiMauro, S.3
Aldover, B.4
-
86
-
-
0018944621
-
Ultrastructural study of globular inclusions in human skeletal muscle mitochondria
-
Bonilla E, Schotland DL, DiMauro S. Ultrastructural study of globular inclusions in human skeletal muscle mitochondria. Acta Neurophatol (Berl) 1980; 52: 35-40.
-
(1980)
Acta Neurophatol (Berl)
, vol.52
, pp. 35-40
-
-
Bonilla, E.1
Schotland, D.L.2
DiMauro, S.3
-
87
-
-
0016425461
-
Stages in fiber breakdown in Duchenne muscular dystrophy. An electronmicroscopic study
-
Cullen MJ, Fulthorpe JJ. Stages in fiber breakdown in Duchenne muscular dystrophy. An electronmicroscopic study. J Neurol Sci 1975; 24: 179-200.
-
(1975)
J Neurol Sci
, vol.24
, pp. 179-200
-
-
Cullen, M.J.1
Fulthorpe, J.J.2
-
88
-
-
0014009761
-
Electron microscopy in the study of muscular dystrophy
-
Pearse GW. Electron microscopy in the study of muscular dystrophy. Ann NY Acad Sci 1966; 138: 138-50.
-
(1966)
Ann NY Acad Sci
, vol.138
, pp. 138-150
-
-
Pearse, G.W.1
-
89
-
-
0014422480
-
"Megaconial" mitochondria observed in a case of chronic polymyositis
-
Chou SM. "Megaconial" mitochondria observed in a case of chronic polymyositis. Acta Neumphatol (Berl) 1969; 12: 68-89.
-
(1969)
Acta Neumphatol (Berl)
, vol.12
, pp. 68-89
-
-
Chou, S.M.1
-
90
-
-
0017580792
-
Dermatomyositis: Ultrastructure of abnormal mitochondria in the skeletal muscle
-
Chew EC, Araoz C, Sun CN, White HJ. Dermatomyositis: ultrastructure of abnormal mitochondria in the skeletal muscle. Ann Clin Lab Sci 1977; 7: 29-34.
-
(1977)
Ann Clin Lab Sci
, vol.7
, pp. 29-34
-
-
Chew, E.C.1
Araoz, C.2
Sun, C.N.3
White, H.J.4
-
91
-
-
0031716076
-
Aspecto clínico de las enfermedades mitocondriales
-
Guerrero A, Castro M, Martín-Estefanía C. Aspecto clínico de las enfermedades mitocondriales. Rev Neurol 1988; 26 (suppl 1): S 50-560.
-
(1988)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Guerrero, A.1
Castro, M.2
Martín-Estefanía, C.3
-
92
-
-
0027752796
-
MELAS syndrome masquerading as herpes simplex encephalitis
-
Johns DR, Stein AG, Wityk R. MELAS syndrome masquerading as herpes simplex encephalitis. Neurology 1993; 43: 2471-3.
-
(1993)
Neurology
, vol.43
, pp. 2471-2473
-
-
Johns, D.R.1
Stein, A.G.2
Wityk, R.3
-
93
-
-
0028506682
-
A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease
-
Isozumi K, Fukuuchi Y, Tanaka K, Nogawa S, Ishihara T, Sakota R. A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease. Int Med 1994; 33: 543-6.
-
(1994)
Int Med
, vol.33
, pp. 543-546
-
-
Isozumi, K.1
Fukuuchi, Y.2
Tanaka, K.3
Nogawa, S.4
Ishihara, T.5
Sakota, R.6
-
95
-
-
0021940365
-
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome
-
Ogasahara S, Yorifuji S, Nishikawa Y, Takahashi M, Wada K, Hazama T et al. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. Neurology 1985; 35: 372-7.
-
(1985)
Neurology
, vol.35
, pp. 372-377
-
-
Ogasahara, S.1
Yorifuji, S.2
Nishikawa, Y.3
Takahashi, M.4
Wada, K.5
Hazama, T.6
-
96
-
-
0022645911
-
Treatment of Kearns-Sayre syndrome with coenzyme Q10
-
Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M et al. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 1986; 36: 45-53.
-
(1986)
Neurology
, vol.36
, pp. 45-53
-
-
Ogasahara, S.1
Nishikawa, Y.2
Yorifuji, S.3
Soga, F.4
Nakamura, Y.5
Takahashi, M.6
-
97
-
-
0023899584
-
Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10
-
Bresolin N, Bet L, Binda A, Moggio M, Comi G, Nador F et al. Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology 1988; 38: 892-9.
-
(1988)
Neurology
, vol.38
, pp. 892-899
-
-
Bresolin, N.1
Bet, L.2
Binda, A.3
Moggio, M.4
Comi, G.5
Nador, F.6
-
98
-
-
0025673969
-
Ubidecarenone in the treatment of mitochondrial myopathies: A multicenter double-blind trial
-
Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E et al. Ubidecarenone in the treatment of mitochondrial myopathies: a multicenter double-blind trial. J Neurol Sci 1990; 100: 70-8.
-
(1990)
J Neurol Sci
, vol.100
, pp. 70-78
-
-
Bresolin, N.1
Doriguzzi, C.2
Ponzetto, C.3
Angelini, C.4
Moroni, I.5
Castelli, E.6
-
99
-
-
0027336477
-
Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease
-
Matthews PM, Ford B, Dandurand RJ, Eidelman DH, O'Connor D, Sherwin A et al. Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease. Neurology 1993; 43: 884-90.
-
(1993)
Neurology
, vol.43
, pp. 884-890
-
-
Matthews, P.M.1
Ford, B.2
Dandurand, R.J.3
Eidelman, D.H.4
O'Connor, D.5
Sherwin, A.6
-
100
-
-
0030062623
-
Long-term therapy with cytochrome c, flavine mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
-
Nakagawa E, Osari S, Yamanouchi H, Matsuda H, Goto Y, Nonaka I. Long-term therapy with cytochrome c, flavine mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome. Brain Dev 1996; 18: 68-70.
-
(1996)
Brain Dev
, vol.18
, pp. 68-70
-
-
Nakagawa, E.1
Osari, S.2
Yamanouchi, H.3
Matsuda, H.4
Goto, Y.5
Nonaka, I.6
-
101
-
-
0025964461
-
Succesful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine
-
Bernsen PL, Cabreëls FJ, Ruitenbeek W, Sengers RC, Stadhouders AM, Renier WO. Succesful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol 1991; 48: 334-8.
-
(1991)
Arch Neurol
, vol.48
, pp. 334-338
-
-
Bernsen, P.L.1
Cabreëls, F.J.2
Ruitenbeek, W.3
Sengers, R.C.4
Stadhouders, A.M.5
Renier, W.O.6
-
102
-
-
0022974034
-
Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase
-
Roodhooft AM, Van Acker KJ, Martin JJ, Ceuterick C, Scholte HR, Luyt-Houwen IE. Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase. Neuropediatrics 1986; 17: 221-6.
-
(1986)
Neuropediatrics
, vol.17
, pp. 221-226
-
-
Roodhooft, A.M.1
Van Acker, K.J.2
Martin, J.J.3
Ceuterick, C.4
Scholte, H.R.5
Luyt-Houwen, I.E.6
-
103
-
-
0029072626
-
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
-
De Stefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995; 45: 1193-8.
-
(1995)
Neurology
, vol.45
, pp. 1193-1198
-
-
De Stefano, N.1
Matthews, P.M.2
Ford, B.3
Genge, A.4
Karpati, G.5
Arnold, D.L.6
-
104
-
-
0026717291
-
Remission of Leber's hereditary optic neuropathy with idebenone
-
Mashima Y, Hiida Y, Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 1992; 340: 368-9.
-
(1992)
Lancet
, vol.340
, pp. 368-369
-
-
Mashima, Y.1
Hiida, Y.2
Oguchi, Y.3
-
105
-
-
0029024853
-
Anesthetic management for a patient with Kearns-Sayre syndrome
-
Kitoh T, Mizuno K, Otagiri T, Ichinose A, Sasao J, Goto H. Anesthetic management for a patient with Kearns-Sayre syndrome. Anesth Analg 1995; 80: 1240-2.
-
(1995)
Anesth Analg
, vol.80
, pp. 1240-1242
-
-
Kitoh, T.1
Mizuno, K.2
Otagiri, T.3
Ichinose, A.4
Sasao, J.5
Goto, H.6
-
106
-
-
0028558576
-
The development of mitochondrial medicine
-
Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci USA 1994; 91: 8731-8.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8731-8738
-
-
Luft, R.1
-
107
-
-
0030031156
-
Mitochondrial DNA and diseases
-
Johns DR. Mitochondrial DNA and diseases. N Engl J Med 1996; 334: 270-1.
-
(1996)
N Engl J Med
, vol.334
, pp. 270-271
-
-
Johns, D.R.1
-
108
-
-
0026587335
-
Mitochondrial genetics: A paradigm for aging an degenerative diseases?
-
Wallace DC. Mitochondrial genetics: A paradigm for aging an degenerative diseases? Science 1992; 256: 628-32.
-
(1992)
Science
, vol.256
, pp. 628-632
-
-
Wallace, D.C.1
-
109
-
-
0031711019
-
Sistema genético mitocondrial humano
-
Enríquez JA, Martínez-Azorín F, Garesse R, López-Pérez MJ, Pérez-Martos A, Borstein B, Montoya J. Sistema genético mitocondrial humano. Rev Neurol 1998; 26 (supl 1): S21-S26.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL
-
-
Enríquez, J.A.1
Martínez-Azorín, F.2
Garesse, R.3
López-Pérez, M.J.4
Pérez-Martos, A.5
Borstein, B.6
Montoya, J.7
-
110
-
-
0030452291
-
Human evolution and the mitochondrial genome
-
Stoneking M, Soodyall H. Human evolution and the mitochondrial genome. Curr Opin Genet Dev 1996; 6: 731-6.
-
(1996)
Curr Opin Genet Dev
, vol.6
, pp. 731-736
-
-
Stoneking, M.1
Soodyall, H.2
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