-
3
-
-
0024420201
-
Myoclonus epilepsy and ragged-red fibers (MERRF). A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
-
Berkovic F, Carpenter S, Evans A, et al. (1989) Myoclonus epilepsy and ragged-red fibers (MERRF). A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 112:1231-1260
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, F.1
Carpenter, S.2
Evans, A.3
-
4
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
-
Pavlakis SG, Philips PC, Dimauro S, et al. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome. Ann Neurol 16:481-488
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Philips, P.C.2
Dimauro, S.3
-
5
-
-
0029763025
-
Respiratory chain encephalomyopathies: A diagnostic classification
-
Walker UA, Collins S, Byrne E (1996) Respiratory chain encephalomyopathies: A diagnostic classification. Eur Neurol 36:260-267
-
(1996)
Eur Neurol
, vol.36
, pp. 260-267
-
-
Walker, U.A.1
Collins, S.2
Byrne, E.3
-
6
-
-
0037069229
-
Diagnostic criteria for respiratory chain disorders in adults and children
-
Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR, (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59:1406-1411
-
(2002)
Neurology
, vol.59
, pp. 1406-1411
-
-
Bernier, F.P.1
Boneh, A.2
Dennett, X.3
Chow, C.W.4
Cleary, M.A.5
Thorburn, D.R.6
-
7
-
-
0027049995
-
Oral glucose lactate stimulation test in mitochondrial diseases
-
Chi CS, Mak SC, Shian WJ, Chen CH (1992) Oral glucose lactate stimulation test in mitochondrial diseases. Pediatr Neurol 8:445-449
-
(1992)
Pediatr Neurol
, vol.8
, pp. 445-449
-
-
Chi, C.S.1
Mak, S.C.2
Shian, W.J.3
Chen, C.H.4
-
8
-
-
33746336630
-
Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency
-
Kang HC, Kim HD, Lee YM, Han SH (2006) Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency. Pediatr Neurol 35:158-161
-
(2006)
Pediatr Neurol
, vol.35
, pp. 158-161
-
-
Kang, H.C.1
Kim, H.D.2
Lee, Y.M.3
Han, S.H.4
-
9
-
-
0036221686
-
The role of mitochondria in epileptogenesis
-
Kunz WS (2002) The role of mitochondria in epileptogenesis. Curr Opin Neurol 15:179-184
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 179-184
-
-
Kunz, W.S.1
-
10
-
-
0024334848
-
Exercise intolerance, lactic acidosis and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency
-
Haller RG, Lewis SF, Estabrook RW, DiMauro S, Servidei S, Foster DW (1989) Exercise intolerance, lactic acidosis and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. J Clin Invest 84:155-161
-
(1989)
J Clin Invest
, vol.84
, pp. 155-161
-
-
Haller, R.G.1
Lewis, S.F.2
Estabrook, R.W.3
DiMauro, S.4
Servidei, S.5
Foster, D.W.6
-
12
-
-
0032893995
-
Respiratory chain complex I deficiency
-
Kirby DM, Crawford M, Cleary MA, Dahl HM, Dennett X, Thorburn DR (1999) Respiratory chain complex I deficiency. Neurology 52:1255-1264
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.M.4
Dennett, X.5
Thorburn, D.R.6
-
13
-
-
0035933047
-
Epileptic phenotypes associated with mitochondrial disorders
-
Canafoglia L, Franceschetti S, Antozzi C, et al. (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56:1340-1346
-
(2001)
Neurology
, vol.56
, pp. 1340-1346
-
-
Canafoglia, L.1
Franceschetti, S.2
Antozzi, C.3
-
14
-
-
0347091766
-
Pyruvate dehydrogenase E1α subunit deficiency in a female patient: Evidence of antenatal origin of brain damage and possible etiology of infantile spasms
-
Wada N, Matsuishi T, Nonaka M, Naito E, Yoshino M (2004) Pyruvate dehydrogenase E1α subunit deficiency in a female patient: Evidence of antenatal origin of brain damage and possible etiology of infantile spasms. Brain Develop 26:57-60
-
(2004)
Brain Develop
, vol.26
, pp. 57-60
-
-
Wada, N.1
Matsuishi, T.2
Nonaka, M.3
Naito, E.4
Yoshino, M.5
-
15
-
-
0031456509
-
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets
-
Wexler ID, Hemalatha SG, McConnell J, et al. (1997) Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Neurology 49:1655-1661
-
(1997)
Neurology
, vol.49
, pp. 1655-1661
-
-
Wexler, I.D.1
Hemalatha, S.G.2
McConnell, J.3
-
16
-
-
0002970172
-
The ketogenic diet
-
In: Wyllie E (ed). 3rd edn. Lippincott Williams & Wilkins Co., Philadelphia
-
Nordli DR Jr, DeVivo DC (2001) The ketogenic diet. In: Wyllie E (ed). The treatment of epilepsy, principles & practice, 3rd edn. Lippincott Williams & Wilkins Co., Philadelphia, pp 1001-1006
-
(2001)
The Treatment of Epilepsy, Principles & Practice
, pp. 1001-1006
-
-
Nordli Jr., D.R.1
DeVivo, D.C.2
-
18
-
-
14244259670
-
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
-
Scaglia F, Towbin JA, Craigen WJ et al. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatr 114:925-931
-
(2004)
Pediatr
, vol.114
, pp. 925-931
-
-
Scaglia, F.1
Towbin, J.A.2
Craigen, W.J.3
-
19
-
-
0002224776
-
Clinical presentation of respiratory chain deficiency
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). 8th edn. Lippincott McGraw-Hill Co., New York
-
Munnich A, Rötig A, Cormier-Daire V, Rustin P (2001) Clinical presentation of respiratory chain deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metoblic & molecular bases of inherited disease, 8th edn. Lippincott McGraw-Hill Co., New York, pp 2261-2274
-
(2001)
The Metoblic & Molecular Bases of Inherited Disease
, pp. 2261-2274
-
-
Munnich, A.1
Rötig, A.2
Cormier-Daire, V.3
Rustin, P.4
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