-
1
-
-
0033525924
-
Oxidative phosphorylation at the fin de siecle
-
SARASTE M. Oxidative phosphorylation at the fin de siecle. Science 1999; 283: 1488-93.
-
(1999)
Science
, vol.283
, pp. 1488-1493
-
-
Saraste, M.1
-
3
-
-
0029587469
-
Molecular genetic aspects of human mitochondrial disorders
-
LARSSON N-G, CLAYTON D A. Molecular genetic aspects of human mitochondrial disorders. Annu Rev Genet 1995; 29: 157-78.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 157-178
-
-
Larsson, N.-G.1
Clayton, D.A.2
-
4
-
-
0031900991
-
The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics
-
CHOMYN A. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet 1998; 62: 745-51.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 745-751
-
-
Chomyn, A.1
-
5
-
-
0025128972
-
Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria
-
WATMOUGH N J, BINDOFF L A, BIRCH-MACHIN M A, et al. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. J Clin Invest 1990; 85: 177-84.
-
(1990)
J Clin Invest
, vol.85
, pp. 177-184
-
-
Watmough, N.J.1
Bindoff, L.A.2
Birch-Machin, M.A.3
-
6
-
-
0020486155
-
31P NMR examination of two patients with NADH-CoQ reductase deficiency
-
31P NMR examination of two patients with NADH-CoQ reductase deficiency. Nature 1982; 295: 608-9.
-
(1982)
Nature
, vol.295
, pp. 608-609
-
-
Radda, G.K.1
Bore, P.J.2
Gadian, D.G.3
-
7
-
-
0031940986
-
A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase
-
MELOV S, SCHNEIDER J A, DAY B J, et al. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat Genet 1998; 18: 159-63.
-
(1998)
Nat Genet
, vol.18
, pp. 159-163
-
-
Melov, S.1
Schneider, J.A.2
Day, B.J.3
-
8
-
-
0027943858
-
Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis
-
SOKOL R J, TWEDT D, MCKIM J M, et al. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994; 107: 1788-98.
-
(1994)
Gastroenterology
, vol.107
, pp. 1788-1798
-
-
Sokol, R.J.1
Twedt, D.2
Mckim, J.M.3
-
9
-
-
0030756162
-
Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease
-
MANSOURI A, GAOU I, FROMENTY B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 1997; 113: 599-605.
-
(1997)
Gastroenterology
, vol.113
, pp. 599-605
-
-
Mansouri, A.1
Gaou, I.2
Fromenty, B.3
-
10
-
-
0028836808
-
Hepatic mitochondrial DNA deletion in alcoholics: Association with microvesicular steatosis
-
FROMENTY B, GRIMBERT S, MANSOURI A, et al. Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis. Gastroenterology 1995; 108: 193-200.
-
(1995)
Gastroenterology
, vol.108
, pp. 193-200
-
-
Fromenty, B.1
Grimbert, S.2
Mansouri, A.3
-
11
-
-
0028817865
-
Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B
-
MCKENZIE R, FRIED M W, SALLIE R, et al. Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B. N Engl J Med 1995; 333: 1099-105.
-
(1995)
N Engl J Med
, vol.333
, pp. 1099-1105
-
-
Mckenzie, R.1
Fried, M.W.2
Sallie, R.3
-
12
-
-
0031713986
-
Disorders of the mitochondria
-
TREEM W R, SOKOL R J. Disorders of the mitochondria. Semin Liver Dis 1998; 38: 237-54.
-
(1998)
Semin Liver Dis
, vol.38
, pp. 237-254
-
-
Treem, W.R.1
Sokol, R.J.2
-
13
-
-
0026712925
-
Fatal neonatal liver failure and mitochondrial cytopathy: An observation with antenatal ascites
-
FAYON M, LAMIREAU T, BIOULAC-SAGE P, et al. Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology 1992; 103: 1332-5.
-
(1992)
Gastroenterology
, vol.103
, pp. 1332-1335
-
-
Fayon, M.1
Lamireau, T.2
Bioulac-Sage, P.3
-
14
-
-
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 1997: 130: 817-22.
-
(1997)
J Pediatr
, vol.130
, pp. 817-822
-
-
Cormier-Daire, V.1
Chretien, D.2
Rustin, P.3
-
15
-
-
0029086830
-
Mitochondrial respiratory chain defect: A new etiology for neonatal cholestasis and early liver insufficiency
-
GONCALVES I, HERMANS D, CHRETIEN D, et al. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. J Hepatol 1995; 23: 290-4.
-
(1995)
J Hepatol
, vol.23
, pp. 290-294
-
-
Goncalves, I.1
Hermans, D.2
Chretien, D.3
-
16
-
-
0025880926
-
Hepatic failure in disorders of oxidative phosphorylation of neonatal onset
-
CORMIER V, RUSTIN P, BONNEFONT J-P, et al. Hepatic failure in disorders of oxidative phosphorylation of neonatal onset. J Pediatr 1991; 119: 951-4.
-
(1991)
J Pediatr
, vol.119
, pp. 951-954
-
-
Cormier, V.1
Rustin, P.2
Bonnefont, J.-P.3
-
17
-
-
0025835577
-
Fatal neonatal hepatocellular deficiency with lactic acidosis: A defect of the respiratory chain
-
PARROT-ROULAUD F, CARRE M, LAMIRAU T et al. Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain. J Inherit Metab Dis 1991; 14: 289-92.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 289-292
-
-
Parrot-Roulaud, F.1
Carre, M.2
Lamirau, T.3
-
18
-
-
0029046683
-
Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain
-
MORRIS A A, TAYLOR R W, BIRCH-MACHIN M A, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 1995; 9: 407-11.
-
(1995)
Pediatr Nephrol
, vol.9
, pp. 407-411
-
-
Morris, A.A.1
Taylor, R.W.2
Birch-Machin, M.A.3
-
19
-
-
0029147133
-
Spectrum of mitochondrial DNA deletions in the Pearson marrow-pancreas syndrome
-
RÖTIG A, BOURGERON T, CHRETIEN D, et al. Spectrum of mitochondrial DNA deletions in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995; 4: 1327-30.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1327-1330
-
-
Rötig, A.1
Bourgeron, T.2
Chretien, D.3
-
20
-
-
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 1998; 28: 556-63.
-
(1998)
J Hepatol
, vol.28
, pp. 556-563
-
-
Morris, A.A.1
Taanman, J.W.2
Blake, J.3
-
21
-
-
0030615059
-
Mitochondrial electron transport chain defect presenting as hypoglycaemia
-
FRECKMANN M-L, THORBURN D R, KIRBY D M, et al. Mitochondrial electron transport chain defect presenting as hypoglycaemia. J Pediatr 1997; 130: 431-6.
-
(1997)
J Pediatr
, vol.130
, pp. 431-436
-
-
Freckmann, M.-L.1
Thorburn, D.R.2
Kirby, D.M.3
-
22
-
-
0032900339
-
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers syndrome
-
NAVIAUX R K, NYHAN W L, BARSHOP B A, et al. Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers syndrome. Ann Neurol 1999; 45: 54-8.
-
(1999)
Ann Neurol
, vol.45
, pp. 54-58
-
-
Naviaux, R.K.1
Nyhan, W.L.2
Barshop, B.A.3
-
23
-
-
0029980584
-
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
-
MAASWINKEL-MOOIJ P D, VAN DEN BOGERT C, SCHOLTE H R, et al. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996; 128: 679-83.
-
(1996)
J Pediatr
, vol.128
, pp. 679-683
-
-
Maaswinkel-Mooij, P.D.1
Van Den Bogert, C.2
Scholte, H.R.3
-
24
-
-
0028156783
-
Mitochondrial rearrangements with onset as chronic diarrhea with villous atrophy
-
CORMIER-DAIRE V, BONNEFONT J-P, RUSTIN P, et al. Mitochondrial rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994; 124: 63-70.
-
(1994)
J Pediatr
, vol.124
, pp. 63-70
-
-
Cormier-Daire, V.1
Bonnefont, J.-P.2
Rustin, P.3
-
25
-
-
0025133424
-
Pearson's marrow-pancreas syndrome, a multisystem mitochondrial disorder in infancy
-
RÖTIG A, CORMIER V, BLANCHE S, et al. Pearson's marrow-pancreas syndrome, a multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601-8.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rötig, A.1
Cormier, V.2
Blanche, S.3
-
26
-
-
0024999128
-
Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review
-
HARDING B H. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher Syndrome): a personal review. J Child Neurol 1990; 5: 273-87.
-
(1990)
J Child Neurol
, vol.5
, pp. 273-287
-
-
Harding, B.H.1
-
27
-
-
0026469782
-
Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatoxicity
-
BICKNESE A R, MAY W, HICKEY W F, DODSON W E. Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatoxicity. Ann Neurol 1992; 32: 767-75.
-
(1992)
Ann Neurol
, vol.32
, pp. 767-775
-
-
Bicknese, A.R.1
May, W.2
Hickey, W.F.3
Dodson, W.E.4
-
28
-
-
0026611398
-
3, depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration
-
3, depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration. Biochem Pharmacol 1992; 43: 644-7.
-
(1992)
Biochem Pharmacol
, vol.43
, pp. 644-647
-
-
Ponchaut, S.1
Van Hoof, F.2
Veitch, K.3
-
29
-
-
0027679504
-
Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver
-
BIOULAC-SAGE P, PARROT-ROULAUD F, MAZAT J P, et al. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology 1993; 18: 839-46.
-
(1993)
Hepatology
, vol.18
, pp. 839-846
-
-
Bioulac-Sage, P.1
Parrot-Roulaud, F.2
Mazat, J.P.3
-
30
-
-
0020557211
-
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
-
BOUSTANY R N, APRILLE J R, HALPERIN J, et al. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol 1983; 14: 462-70.
-
(1983)
Ann Neurol
, vol.14
, pp. 462-470
-
-
Boustany, R.N.1
Aprille, J.R.2
Halperin, J.3
-
31
-
-
0029869935
-
Depletion of mitochondrial DNA in a family with fatal neonatal liver disease
-
BARKER H D, SCHOLTE H R, DINGEMANS K P, et al. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr 1996; 128: 683-7.
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Barker, H.D.1
Scholte, H.R.2
Dingemans, K.P.3
-
32
-
-
0018712317
-
A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
-
PEARSON H, LOBEL J, KOCOSHIS S, et al. A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976-984.
-
(1979)
J Pediatr
, vol.95
, pp. 976-984
-
-
Pearson, H.1
Lobel, J.2
Kocoshis, S.3
-
33
-
-
0343251498
-
Liver disease in the perinatal infant
-
Wiggleworth J S, Singer D B eds. Oxford: Blackwell
-
DIMMICK J E, JEVON G P. Liver disease in the perinatal infant. In: Wiggleworth J S, Singer D B eds. Textbook of fetal and perinatal pathology. Oxford: Blackwell, 1998: 865-99.
-
(1998)
Textbook of Fetal and Perinatal Pathology
, pp. 865-899
-
-
Dimmick, J.E.1
Jevon, G.P.2
-
34
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
CASARI G, DE Fusco M, CIARMATORI S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-83.
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
-
35
-
-
0025345775
-
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
-
LARSSON N G, HOLME E, KRISTIANSSON B, et al. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990; 28: 131-6.
-
(1990)
Pediatr Res
, vol.28
, pp. 131-136
-
-
Larsson, N.G.1
Holme, E.2
Kristiansson, B.3
-
36
-
-
0025968682
-
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
-
MCSHANE M A, HAMMANS S R, SWEENEY M, et al. Pearson Syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991; 48: 39-42.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 39-42
-
-
Mcshane M, A.1
Hammans, S.R.2
Sweeney, M.3
-
37
-
-
0026569283
-
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia
-
RöTIG A, BESSIS J-L, ROMERO N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 1992; 50: 364-70.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 364-370
-
-
Rötig, A.1
Bessis, J.-L.2
Romero, N.3
-
38
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 2223000)
-
RÖTIG A, CORMIER V, CHATELAIN P. Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 2223000). J Clin Invest 1993; 91: 1095-8.
-
(1993)
J Clin Invest
, vol.91
, pp. 1095-1098
-
-
Rötig, A.1
Cormier, V.2
Chatelain, P.3
-
40
-
-
0026015896
-
mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
MORAES C T, SHANSKE S, TRISCHLER H-J, et al. 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
Trischler, H.-J.3
-
41
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
TRITSCHLER H J, ANDREETTA F, MORAES C T, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992; 42: 209-17.
-
(1992)
Neurology
, vol.42
, pp. 209-217
-
-
Tritschler, H.J.1
Andreetta, F.2
Moraes, C.T.3
-
42
-
-
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 1997; 6: 935-42.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 935-942
-
-
Taanman, J.W.1
Bodnar, A.G.2
Cooper, J.M.3
-
43
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
MAZZIOTTA M R, RICCI E, BERTINI E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992; 121: 896-901.
-
(1992)
J Pediatr
, vol.121
, pp. 896-901
-
-
Mazziotta, M.R.1
Ricci, E.2
Bertini, E.3
-
44
-
-
0029869891
-
Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family
-
BAKKER H D, VAN DEN BOGERT C, SCHOLTE H R, et al. Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J Inherit Metab Dis 1996; 19: 112-4.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 112-114
-
-
Bakker, H.D.1
Van Den Bogert, C.2
Scholte, H.R.3
-
45
-
-
0028223609
-
Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion
-
LARSSON N G, OLDFORS A, HOLME E, CLAYTON D A. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 1994; 200: 1374-81.
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 1374-1381
-
-
Larsson, N.G.1
Oldfors, A.2
Holme, E.3
Clayton, D.A.4
-
46
-
-
0027496432
-
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
-
BODNAR A G, COOPER J M, HOLT I J, et al. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 1993; 53: 663-9.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 663-669
-
-
Bodnar, A.G.1
Cooper, J.M.2
Holt, I.J.3
-
47
-
-
0032231707
-
A high rate (20-30%) of parental consanguinity in cytochrome oxidase activity
-
VON KLEIST-RETZOW J-C, CORMIER-DAIRE V, DE LONLAY P, et al. A high rate (20-30%) of parental consanguinity in cytochrome oxidase activity. Am J Hum Genet 1998; 63: 428-35.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 428-435
-
-
Von Kleist-Retzow, J.-C.1
Cormier-Daire, V.2
De Lonlay, P.3
-
48
-
-
17344365132
-
Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
-
VAN DER HEUVEL L, RUITENBEEK W, SMEETS R, et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 1998; 62: 262-8.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 262-268
-
-
Van Der Heuvel, L.1
Ruitenbeek, W.2
Smeets, R.3
-
49
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
BOURGERON T, RUSTIN P, CHRETIEN D, 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
-
50
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome oxidase, is mutated in Leigh syndrome
-
ZHU Z, YAO J, JOHNS T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome oxidase, is mutated in Leigh syndrome. Nat Genet 1998; 20: 337-43.
-
(1998)
Nat Genet
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
-
51
-
-
0027379869
-
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean
-
MORIN C, MITCHELL G, LAROCHELLE J, et al. Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. Am J Hum Genet 1993; 53: 488-96.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 488-496
-
-
Morin, C.1
Mitchell, G.2
Larochelle, J.3
-
52
-
-
0027364451
-
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec
-
MERANTE F, PETROVA-BENEDICT R, MACKAY N, et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 1993; 53: 481-7.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 481-487
-
-
Merante, F.1
Petrova-Benedict, R.2
Mackay, N.3
-
53
-
-
0000238410
-
Diffuse progressive degeneration of the gray matter of the cerebrum
-
ALPERS B J. Diffuse progressive degeneration of the gray matter of the cerebrum. Arch Neurol Psychiatry 1931; 25: 469-505.
-
(1931)
Arch Neurol Psychiatry
, vol.25
, pp. 469-505
-
-
Alpers, B.J.1
-
54
-
-
0017260560
-
Infantile diffuse cerebral degeneration with hepatic cirrhosis
-
HUTTENLOCHER P R, SOLITARE G B, ADAMS G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol 1976; 33: 186-92.
-
(1976)
Arch Neurol
, vol.33
, pp. 186-192
-
-
Huttenlocher, P.R.1
Solitare, G.B.2
Adams, G.3
-
56
-
-
0028955157
-
Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults
-
HARDING B N, ALSANJARI N, SMITH S J M, et al. Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. J Neurol Neurosurg Psychiatry 1994; 58: 320-5.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 320-325
-
-
Harding, B.N.1
Alsanjari, N.2
Smith, S.J.M.3
-
57
-
-
0029811567
-
Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease
-
MORRIS A A, SINGH-KLER R, PERRY R H, et al. Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease. J Child Neurol 1996; 11: 417-9.
-
(1996)
J Child Neurol
, vol.11
, pp. 417-419
-
-
Morris, A.A.1
Singh-Kler, R.2
Perry, R.H.3
-
58
-
-
0019815796
-
Progressive infantile poliodystrophy, association with disturbed pyruvate oxidation in muscle and liver
-
PRICK M J J, GABREELS F J M, REINER W O, et al. Progressive infantile poliodystrophy, association with disturbed pyruvate oxidation in muscle and liver. Arch Neurol 1981; 38: 767-72.
-
(1981)
Arch Neurol
, vol.38
, pp. 767-772
-
-
Prick, M.J.J.1
Gabreels, F.J.M.2
Reiner, W.O.3
-
59
-
-
0025769336
-
Mitochondrial encephalomyopathies in childhood. 2 clinical manifestations and syndromes
-
TULINIUS M H, HOLME E, KRISTIANSSON B, et al. Mitochondrial encephalomyopathies in childhood. 2 clinical manifestations and syndromes. J Pediatr 1991; 119: 251-9.
-
(1991)
J Pediatr
, vol.119
, pp. 251-259
-
-
Tulinius, M.H.1
Holme, E.2
Kristiansson, B.3
-
60
-
-
0344969176
-
Respiratory chain complex I and other defects in Alpers disease
-
PETERS H, CHOW C W, KIRBY D, et al. Respiratory chain complex I and other defects in Alpers disease. J Inherit Metab Dis 1998; 21: 75.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 75
-
-
Peters, H.1
Chow, C.W.2
Kirby, D.3
-
61
-
-
0027955658
-
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
-
EDERY P, GERARD B, CHRETIEN D, et al. Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur J Pediatr 1994; 153: 190-4.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 190-194
-
-
Edery, P.1
Gerard, B.2
Chretien, D.3
-
62
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
RUSTIN P, CHRETIEN D, BOURGERON T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228: 35-51.
-
(1994)
Clin Chim Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
-
63
-
-
0027481838
-
Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies
-
TRIJBELS J M F, SCHOLTE H R, RUITENBEEK W, et al. Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies. Eur J Pediatr 1993; 152: 178-84.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 178-184
-
-
Trijbels, J.M.F.1
Scholte, H.R.2
Ruitenbeek, W.3
-
64
-
-
0027388963
-
Cytochrome c oxidase activity in single muscle fibres: Assay techniques and diagnostic applications
-
JOHNSON M A, BINDOFF L A, TURNBULL D M. Cytochrome c oxidase activity in single muscle fibres: assay techniques and diagnostic applications. Ann Neurol 1993; 33: 28-35.
-
(1993)
Ann Neurol
, vol.33
, pp. 28-35
-
-
Johnson, M.A.1
Bindoff, L.A.2
Turnbull, D.M.3
-
65
-
-
0029773867
-
The treatment of congenital lactic acidoses
-
MORRIS A A, LEONARD J V. The treatment of congenital lactic acidoses. J Inherit Metab Dis 1996; 19: 573-80.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 573-580
-
-
Morris, A.A.1
Leonard, J.V.2
-
66
-
-
0141610413
-
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
-
OGASAHAWA S, ENGEL A G, FRENS D, MACK D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 1989; 86: 2379-82.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 2379-2382
-
-
Ogasahawa, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
-
67
-
-
0027336477
-
10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease
-
10 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
-
69
-
-
0021449807
-
3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
-
3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci U S A 1984; 81: 3529-33.
-
(1984)
Proc Natl Acad Sci U S A
, vol.81
, pp. 3529-3533
-
-
Eleff, S.1
Kennaway, N.G.2
Buist, N.R.M.3
-
70
-
-
0029072626
-
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
-
DE STEFANO N, MATTHEWS P M, FORD B, et al. 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
-
71
-
-
0031899233
-
Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplantation
-
THOMSON M, MCKIERNAN P, BUCKELS J, et al. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplantation. J Pediatr Gastroenterol Nutr 1998; 26: 478-81.
-
(1998)
J Pediatr Gastroenterol Nutr
, vol.26
, pp. 478-481
-
-
Thomson, M.1
Mckiernan, P.2
Buckels, J.3
-
72
-
-
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 Pediatr 1993; 123: 598-602.
-
(1993)
J Pediatr
, vol.123
, pp. 598-602
-
-
Bernes, S.M.1
Bacino, C.2
Prezant, T.R.3
-
73
-
-
85045129438
-
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures
-
In Press
-
BLAKE J C, TAANMAN J-W, MORRIS A A, et al. Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. Am J Pathol (In Press).
-
Am J Pathol
-
-
Blake, J.C.1
Taanman, J.-W.2
Morris, A.A.3
-
74
-
-
0029887691
-
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin permeabilised cells
-
WANDERS R J A, RUITER J P N, WIJBURG F A, et al. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin permeabilised cells. J Inherit Metab Dis 1996; 19: 133-6.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 133-136
-
-
Wanders, R.J.A.1
Ruiter, J.P.N.2
Wijburg, F.A.3
-
75
-
-
0030910828
-
Skewed segregation of the mtDNA nt 8993 (T to G) mutation in human oocytes
-
BLOK R B, GOOK D A, THORBURN D R, DAHL H-H M. Skewed segregation of the mtDNA nt 8993 (T to G) mutation in human oocytes. Am J Hum Genet 1997; 60: 1495-1501.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1495-1501
-
-
Blok, R.B.1
Gook, D.A.2
Thorburn, D.R.3
Dahl, H.-H.M.4
|