-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genuine
-
Anderson S, Bankier AT, Barell BG, de Bruijn MHL, Coulson AR, Drouin J et al (1981) Sequence and organization of the human mitochondrial genuine. Nature 290: 457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barell, B.G.3
De Bruijn, M.H.L.4
Coulson, A.R.5
Drouin, J.6
-
2
-
-
0027538383
-
Role of mitochondria in carcinogenesis
-
Baggetto LG (1993) Role of mitochondria in carcinogenesis. Eur J Cancer 1: 156-159
-
(1993)
Eur J Cancer
, vol.1
, pp. 156-159
-
-
Baggetto, L.G.1
-
3
-
-
0027474519
-
Deficiency of the adeninc nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: A new mitochondrial defect
-
Bakker HD, Scholte HR, Van den Bogert C, Ruitenbeek W, Jeneson JAL, Wanders RJA, et al (1993) Deficiency of the adeninc nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. Pediatr Res 4: 412-417
-
(1993)
Pediatr Res
, vol.4
, pp. 412-417
-
-
Bakker, H.D.1
Scholte, H.R.2
Van den Bogert, C.3
Ruitenbeek, W.4
Jeneson, J.A.L.5
Wanders, R.J.A.6
-
4
-
-
0029869935
-
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
-
Bakker HD, Scholte H, Dingemans KP, Spelbrink JN, Wijburg F, Van den Bogert C (1996) Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 128: 683-687
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Bakker, H.D.1
Scholte, H.2
Dingemans, K.P.3
Spelbrink, J.N.4
Wijburg, F.5
Van den Bogert, C.6
-
5
-
-
0014747536
-
Defect in pyruvate decarboxy lase in a child with an intermittent movement disorder
-
Blass JP, Avigan J, Uhlendorf BWA (1970) Defect in pyruvate decarboxy lase in a child with an intermittent movement disorder. J Clin Invest 49: 423-432
-
(1970)
J Clin Invest
, vol.49
, pp. 423-432
-
-
Blass, J.P.1
Avigan, J.2
Uhlendorf, B.W.A.3
-
6
-
-
0023838498
-
Cerebral lactic acidosis: Defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
-
Brown GK, Haan EA, Kirby DM, Scholem RD, Wraith JE, Rogers JG, Danks DM (1988) Cerebral lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr 147: 10-14
-
(1988)
Eur J Pediatr
, vol.147
, pp. 10-14
-
-
Brown, G.K.1
Haan, E.A.2
Kirby, D.M.3
Scholem, R.D.4
Wraith, J.E.5
Rogers, J.G.6
Danks, D.M.7
-
7
-
-
0028286006
-
Molecular basis of mitochondrial DNA disease
-
Brown MD, Wallace DC (1994) Molecular basis of mitochondrial DNA disease. J Bioenerg Biomembr 26: 273-289
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 273-289
-
-
Brown, M.D.1
Wallace, D.C.2
-
8
-
-
0027275218
-
Wolfram syndrome. A mitochondrial-mediated disorder?
-
Bu X, Rotter JI (1993) Wolfram syndrome. A mitochondrial-mediated disorder? Lancet 342: 598-600
-
(1993)
Lancet
, vol.342
, pp. 598-600
-
-
Bu, X.1
Rotter, J.I.2
-
10
-
-
0028156783
-
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
-
Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogier H, Schmitz J. et al (1994) Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 124: 63-70
-
(1994)
J Pediatr
, vol.124
, pp. 63-70
-
-
Cormier-Daire, V.1
Bonnefont, J.P.2
Rustin, P.3
Maurage, C.4
Ogier, H.5
Schmitz, J.6
-
11
-
-
0028221762
-
Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage
-
Dalakas MC, Leon-Monzon ME, Bernardini I, Gahl WA, Cheryl CA (1994) Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage. Ann Neurol 35: 482-487
-
(1994)
Ann Neurol
, vol.35
, pp. 482-487
-
-
Dalakas, M.C.1
Leon-Monzon, M.E.2
Bernardini, I.3
Gahl, W.A.4
Cheryl, C.A.5
-
12
-
-
0021798888
-
Mitochondrial myopathies
-
Di Mauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC (1985) Mitochondrial myopathies. Ann Neurol 17: 521-538
-
(1985)
Ann Neurol
, vol.17
, pp. 521-538
-
-
Di Mauro, S.1
Bonilla, E.2
Zeviani, M.3
Nakagawa, M.4
De Vivo, D.C.5
-
13
-
-
0019795278
-
Mitochondrial cytopathy. A multisystem disorder with ragged-red fibers on muscle biopsy
-
Egger J, Lake BD, Wilson J (1981) Mitochondrial cytopathy. A multisystem disorder with ragged-red fibers on muscle biopsy. Arch Dis Child 56: 741-752
-
(1981)
Arch Dis Child
, vol.56
, pp. 741-752
-
-
Egger, J.1
Lake, B.D.2
Wilson, J.3
-
14
-
-
0020554889
-
Mitochondrial inheritance in a mitochondrially mediated disease
-
Egger J, Wilson J (1983) Mitochondrial inheritance in a mitochondrially mediated disease. N Engl J Med 309: 142-145
-
(1983)
N Engl J Med
, vol.309
, pp. 142-145
-
-
Egger, J.1
Wilson, J.2
-
15
-
-
0001698695
-
Rapid examination of muscle tissue: An improved trichrome stain method for fresh-frozen biopsy sections
-
Engel WK, Cunningham GG (1963) Rapid examination of muscle tissue: an improved trichrome stain method for fresh-frozen biopsy sections. Neurology 13: 919-923
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunningham, G.G.2
-
16
-
-
0029742451
-
The role of magnetic resonance spectroscopy in the investigation of lactic acidosis and inborn errors of energy metabolism
-
Gudian DG, Leonard JV (1996) The role of magnetic resonance spectroscopy in the investigation of lactic acidosis and inborn errors of energy metabolism. J Inher Metab Dis 19: 548-552
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 548-552
-
-
Gudian, D.G.1
Leonard, J.V.2
-
17
-
-
33847483240
-
Hochauflösende Respirometrie und multiple Substrat/Inhibitor-Titration zum funktionellen Nachweis mitochondrialer Defekte in permeabilisierten Muskelfasern
-
Gross M, Gresser U (Hrsg). Grundlage hereditärer Myopathien. W. Zuckschwerdt, München
-
Gellerich FN, Skladal D, Schranzhofer R, Lanznaster N, Kunz WS, Wisniewski E, et al (1995) Hochauflösende Respirometrie und multiple Substrat/Inhibitor-Titration zum funktionellen Nachweis mitochondrialer Defekte in permeabilisierten Muskelfasern. In: Gross M, Gresser U (Hrsg) Molekulare. Grundlage hereditärer Myopathien. W. Zuckschwerdt, München. S 52-66
-
(1995)
Molekulare
, pp. 52-66
-
-
Gellerich, F.N.1
Skladal, D.2
Schranzhofer, R.3
Lanznaster, N.4
Kunz, W.S.5
Wisniewski, E.6
-
18
-
-
0030046495
-
Perspectives in diabetes. Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit
-
Gerbitz KD, Gempel K, Brdiczka D (1996) Perspectives in diabetes. Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit. Diabetes 45: 113-126
-
(1996)
Diabetes
, vol.45
, pp. 113-126
-
-
Gerbitz, K.D.1
Gempel, K.2
Brdiczka, D.3
-
19
-
-
0024974101
-
Mitochondrial DNA. Small, beautiful and essential
-
Grivell LA (1989) Mitochondrial DNA. Small, beautiful and essential. Nature 341: 569-571
-
(1989)
Nature
, vol.341
, pp. 569-571
-
-
Grivell, L.A.1
-
20
-
-
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, S (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44: 721-727
-
(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.S.6
-
21
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
22
-
-
0028131509
-
Decreased synthesis and inefficient mitochondria import of hsp60 in a patient with a mitochondrial encephalomyopathy
-
Huckriede A, Agsteribbe E (1994) Decreased synthesis and inefficient mitochondria] import of hsp60 in a patient with a mitochondrial encephalomyopathy. Biochim Biophys Acta 1227: 200-206
-
(1994)
Biochim Biophys Acta
, vol.1227
, pp. 200-206
-
-
Huckriede, A.1
Agsteribbe, E.2
-
23
-
-
0029936868
-
Importance of mitochondrial transmembrane processes in human mitochondriopathies
-
Huizing M, DePinto V, Ruitenbeek W, Trijbels FJM, van den Heuvel LP, Wendel U (1996) Importance of mitochondrial transmembrane processes in human mitochondriopathies. J Bioenerg Biomembr 28: 109-114
-
(1996)
J Bioenerg Biomembr
, vol.28
, pp. 109-114
-
-
Huizing, M.1
DePinto, V.2
Ruitenbeek, W.3
Trijbels, F.J.M.4
Van den Heuvel, L.P.5
Wendel, U.6
-
24
-
-
0025116098
-
Heteroplasmy in chronic external ophthalmoplegia: Clinical and molecular observations
-
Hurko O, Johns DR, Rutledge SL, Stine OC, Peterson PL, Miller NR, et al (1990) Heteroplasmy in chronic external ophthalmoplegia: clinical and molecular observations. Pediatr Res 28: 542-548
-
(1990)
Pediatr Res
, vol.28
, pp. 542-548
-
-
Hurko, O.1
Johns, D.R.2
Rutledge, S.L.3
Stine, O.C.4
Peterson, P.L.5
Miller, N.R.6
-
25
-
-
0023920693
-
Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA
-
King MP, Attardi G (1988) Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA. Cell 52: 811-819
-
(1988)
Cell
, vol.52
, pp. 811-819
-
-
King, M.P.1
Attardi, G.2
-
26
-
-
0025345775
-
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
-
Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M (1990) Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 28: 131-136
-
(1990)
Pediatr Res
, vol.28
, pp. 131-136
-
-
Larsson, N.G.1
Holme, E.2
Kristiansson, B.3
Oldfors, A.4
Tulinius, M.5
-
27
-
-
0011492855
-
Molecular basis of mitochondrial pathology
-
Lee CP (ed). Academic Press Inc. New York
-
Lee CP (1994) Molecular basis of mitochondrial pathology. Preface. In: Lee CP (ed) Current topics in bioenergetics, vol 17: xi-xii, Academic Press Inc. New York
-
(1994)
Current Topics in Bioenergetics
, vol.17
-
-
Lee, C.P.1
-
29
-
-
0027463143
-
Familial visceral myopathy associated with a mitochondrial myopathy
-
Lowsky R, Davidson G, Wolman S, Jeejeebhoy KN, Hegele RA (1993) Familial visceral myopathy associated with a mitochondrial myopathy. Gut 34: 279-283
-
(1993)
Gut
, vol.34
, pp. 279-283
-
-
Lowsky, R.1
Davidson, G.2
Wolman, S.3
Jeejeebhoy, K.N.4
Hegele, R.A.5
-
30
-
-
0001455735
-
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, Ernster L, Afzelius B (1962) 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: 1176-1804
-
(1962)
J Clin Invest
, vol.41
, pp. 1176-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
31
-
-
0028558576
-
The development of mitochondrial medicine
-
Luft R (1995) The development of mitochondrial medicine. Proc Natl Acad Sci USA 91: 8731-8738
-
(1995)
Proc Natl Acad Sci USA
, vol.91
, pp. 8731-8738
-
-
Luft, R.1
-
32
-
-
0029980584
-
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
-
Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, Onkenbout W, Brederoo P, Poorthuis BJHM (1996) Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 128: 679-683
-
(1996)
J Pediatr
, vol.128
, pp. 679-683
-
-
Maaswinkel-Mooij, P.D.1
Van den Bogert, C.2
Scholte, H.R.3
Onkenbout, W.4
Brederoo, P.5
Poorthuis, B.J.H.M.6
-
33
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophtalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda A. et al (1989) Mitochondrial DNA deletions in progressive external ophtalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320: 1293-1299
-
(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.6
-
34
-
-
0029939378
-
Clinical presentations and laboratory investigations in respiratory chain deficiency
-
Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P (1996) Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 155: 262-274
-
(1996)
Eur J Pediatr
, vol.155
, pp. 262-274
-
-
Munnich, A.1
Rötig, A.2
Chretien, D.3
Saudubray, J.M.4
Cormier, V.5
Rustin, P.6
-
35
-
-
0015309883
-
Oculocraniosomatic neuromuscular disease with "ragged-red" fibers
-
Olson W, Engel WK, Walsh GO, Einangler R (1972) Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Arch Neurol 26: 193-211
-
(1972)
Arch Neurol
, vol.26
, pp. 193-211
-
-
Olson, W.1
Engel, W.K.2
Walsh, G.O.3
Einangler, R.4
-
36
-
-
0029010616
-
Mitochondrial DNA mutations associated with aging and degenerative diseases
-
Ozawa T (1995) Mitochondrial DNA mutations associated with aging and degenerative diseases. Exp Gerontol 30: 269-290
-
(1995)
Exp Gerontol
, vol.30
, pp. 269-290
-
-
Ozawa, T.1
-
37
-
-
0029066771
-
The treatment of mitochondrial myopathies and encephalomyopathies
-
Peterson PL (1995) The treatment of mitochondrial myopathies and encephalomyopathies. Biochim Biophys Acta 1271: 275-280
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 275-280
-
-
Peterson, P.L.1
-
38
-
-
0028930787
-
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
-
Poulton J, Sewry C. Potter CG, Bougeron T, Chretien D, Wijburg FA, et al (1995) Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inher Metab Dis 18: 4-20
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
Bougeron, T.4
Chretien, D.5
Wijburg, F.A.6
-
39
-
-
0023253686
-
Therapy of mitochondrial disorders
-
Przyrembel H (1987) Therapy of mitochondrial disorders. J Inher Metab Dis 10: 129-146
-
(1987)
J Inher Metab Dis
, vol.10
, pp. 129-146
-
-
Przyrembel, H.1
-
40
-
-
0024590185
-
Mitochondrial DNA- Seletion in Pearson's marrow/pancreas syndrome
-
Rötig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A (1989) Mitochondrial DNA- Seletion in Pearson's marrow/pancreas syndrome. Lancet i April 22: 902-903
-
(1989)
Lancet i April
, vol.22
, pp. 902-903
-
-
Rötig, A.1
Colonna, M.2
Bonnefont, J.P.3
Blanche, S.4
Fischer, A.5
Saudubray, J.M.6
Munnich, A.7
-
41
-
-
0028908586
-
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis
-
Rötig A, Goutiéres F, Niaudet P, Rustin P, Chretien D, Guest G, et al (1995) Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. J Pediatr 126: 597-601
-
(1995)
J Pediatr
, vol.126
, pp. 597-601
-
-
Rötig, A.1
Goutiéres, F.2
Niaudet, P.3
Rustin, P.4
Chretien, D.5
Guest, G.6
-
42
-
-
0029745044
-
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism
-
Ruitenbeek W, Wendel U, Hamel BCJ, Trijbels JMF (1996) Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism. J Inher Metab Dis 19: 581-587
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 581-587
-
-
Ruitenbeek, W.1
Wendel, U.2
Hamel, B.C.J.3
Trijbels, J.M.F.4
-
43
-
-
0024371031
-
Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey
-
Saudubray JM, Ogier H, Bonnefont JP, Munnich A. Lombes A, Hervé F, et al (1989) Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey. J Inher Metabl Dis [Suppl] 1: 25-41
-
(1989)
J Inher Metabl Dis [Suppl]
, vol.1
, pp. 25-41
-
-
Saudubray, J.M.1
Ogier, H.2
Bonnefont, J.P.3
Munnich, A.4
Lombes, A.5
Hervé, F.6
-
44
-
-
0024390719
-
Mitochondrial complex I deficiency in Parkinson's disease
-
Schapira AHV, Cooper JM, Dexter D, Jenner P, Cark JB, Marsden CD (1989) Mitochondrial complex I deficiency in Parkinson's disease. Lancet i: 1269
-
(1989)
Lancet
, vol.1
, pp. 1269
-
-
Schapira, A.H.V.1
Cooper, J.M.2
Dexter, D.3
Jenner, P.4
Cark, J.B.5
Marsden, C.D.6
-
45
-
-
0028227936
-
Mitochondrial encephalomyopathies:clinical and molecular analysis
-
Schon EA, Hirano M, DiMauro S (1994) Mitochondrial encephalomyopathies:clinical and molecular analysis. J Bioenerg and Biomembr 3 :291-299
-
(1994)
J Bioenerg and Biomembr
, vol.3
, pp. 291-299
-
-
Schon, E.A.1
Hirano, M.2
DiMauro, S.3
-
46
-
-
0028804570
-
Transfection of mitochondria: Strategy towards a gene therapy of mitochondrial DNA diseases
-
Seibel P, Trappe J, Villiani G, Klopstock T, Papa S, Reichmann H (1995) Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic Acids Res 23: 10-17
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 10-17
-
-
Seibel, P.1
Trappe, J.2
Villiani, G.3
Klopstock, T.4
Papa, S.5
Reichmann, H.6
-
47
-
-
0021345994
-
Mitochondrial myopathies: Clinical, morphological and biochemical aspects
-
Sengers RCA, Stadhouders AM, Trijbles JMF (1984) Mitochondrial myopathies: clinical, morphological and biochemical aspects. Eur J Pediatr 141: 192-207
-
(1984)
Eur J Pediatr
, vol.141
, pp. 192-207
-
-
Sengers, R.C.A.1
Stadhouders, A.M.2
Trijbles, J.M.F.3
-
48
-
-
0025371499
-
Oxidative posphorylation diseases. Disorders of two genomes
-
Shoffner JM, Wallace DC (1990) Oxidative posphorylation diseases. Disorders of two genomes. Adv Hum Genet 19: 267-330
-
(1990)
Adv Hum Genet
, vol.19
, pp. 267-330
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
49
-
-
0028037791
-
Oxidative phosphorylation diseases and mitochondrial DNA mutations: Diagnosis and treatment
-
Shoffner JM, Wallace DC (1994) Oxidative phosphorylation diseases and mitochondrial DNA mutations: Diagnosis and treatment. Annu Rev Nutr 14: 535-568
-
(1994)
Annu Rev Nutr
, vol.14
, pp. 535-568
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
50
-
-
0141883425
-
Atmungskettendefekte als häufigste Ursache angeborener Milchsäureazidose beim Neugeborenen
-
Skladal D, Sperl W (1995) Atmungskettendefekte als häufigste Ursache angeborener Milchsäureazidose beim Neugeborenen. Pädiat Prax 50: 79-84
-
(1995)
Pädiat Prax
, vol.50
, pp. 79-84
-
-
Skladal, D.1
Sperl, W.2
-
51
-
-
0025048711
-
Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies
-
Sperl W, Ruitenbeek W, Trijbels JMF, Korenke GC, Sengers RCA (1990) Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies. J Inher Metab Dis 13: 359-362
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 359-362
-
-
Sperl, W.1
Ruitenbeek, W.2
Trijbels, J.M.F.3
Korenke, G.C.4
Sengers, R.C.A.5
-
52
-
-
0026548643
-
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies
-
Sperl W, Ruitenbeek W, Sengers RCA. Trijbels JMF, Bentlage H, Wraith JE, et al (1992) Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies. Eur J Pediatr 151: 192-195
-
(1992)
Eur J Pediatr
, vol.151
, pp. 192-195
-
-
Sperl, W.1
Ruitenbeek, W.2
Sengers, R.C.A.3
Trijbels, J.M.F.4
Bentlage, H.5
Wraith, J.E.6
-
53
-
-
0026458339
-
Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates
-
Sperl W, Sengers RCA, Trijbels JMF, Ruitenbeek W, Doesburg WH, Smeitnik JAM, et al (1992) Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates. Ann Clin Biochem 29: 638-645
-
(1992)
Ann Clin Biochem
, vol.29
, pp. 638-645
-
-
Sperl, W.1
Sengers, R.C.A.2
Trijbels, J.M.F.3
Ruitenbeek, W.4
Doesburg, W.H.5
Smeitnik, J.A.M.6
-
54
-
-
0028148359
-
Die Differentialdiagnose der Milchsaureazidose
-
Sperl W (1994) Die Differentialdiagnose der Milchsaureazidose. Paediatr Paedol 29: 71-74
-
(1994)
Paediatr Paedol
, vol.29
, pp. 71-74
-
-
Sperl, W.1
-
55
-
-
0028075364
-
Polarographic studies of saponin-skinned muscle fibres in patients with mitochondrial myopathies
-
Sperl W, Skladal D, Lanznaster N, Schranzhofer R, Zaunschirm G, Gnaiger E, et al (1994) Polarographic studies of saponin-skinned muscle fibres in patients with mitochondrial myopathies. J Inher Metab Dis 17: 307-310
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 307-310
-
-
Sperl, W.1
Skladal, D.2
Lanznaster, N.3
Schranzhofer, R.4
Zaunschirm, G.5
Gnaiger, E.6
-
56
-
-
1542393314
-
Cardiomyopathy and mitochondrial defects of oxidative energy metabolism
-
Böhles H, Hofstetter R, Sewell AC (eds). Wissenschaftliche Verlagsgesellschaft mbH, Stuttgart
-
Sperl W (1995) Cardiomyopathy and mitochondrial defects of oxidative energy metabolism. In: Böhles H, Hofstetter R, Sewell AC (eds) Metabolic cardiomyopathy. Wissenschaftliche Verlagsgesellschaft mbH, Stuttgart, pp 119- 136
-
(1995)
Metabolic Cardiomyopathy
, pp. 119-136
-
-
Sperl, W.1
-
57
-
-
0030869158
-
High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders
-
in press
-
Sperl W, Skladal D, Gnaiger E, Wyss M, Mayr U, Hager J, Gellerich FN (1997) High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders. Mol Cell Biochem (in press)
-
(1997)
Mol Cell Biochem
-
-
Sperl, W.1
Skladal, D.2
Gnaiger, E.3
Wyss, M.4
Mayr, U.5
Hager, J.6
Gellerich, F.N.7
-
58
-
-
0028258316
-
Mitochondrial DNA deletion: A cause of chronic tubulointerstitial nephropathy
-
Szaboles MJ, Seigle R, Shanske S. Bonilla E, DiMauro S, D'Agati V (1994) Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. Kidney Int 45: 1388-1396
-
(1994)
Kidney int
, vol.45
, pp. 1388-1396
-
-
Szaboles, M.J.1
Seigle, R.2
Shanske, S.3
Bonilla, E.4
DiMauro, S.5
D'Agati, V.6
-
59
-
-
8044229611
-
-
34 Jahrestagung, Österr. Gesellschaft f. Kinder und Jugendheilkunde, Mayrhofen. Abstr. P26
-
Trieb T, Sperl W, Chemelli A, Felber S (1996) Stellenwert der Protonenspektroskopie in der ZNS Diagnostik in der Pädiatrie. 34 Jahrestagung, Österr. Gesellschaft f. Kinder und Jugendheilkunde, Mayrhofen. Abstr. P26
-
(1996)
Stellenwert der Protonenspektroskopie in der ZNS Diagnostik in der Pädiatrie.
-
-
Trieb, T.1
Sperl, W.2
Chemelli, A.3
Felber, S.4
-
60
-
-
0023717111
-
Disorders of the mitochondrial respiratory chain: Clinical manifestation and diagnostic approach
-
Trijbels JMF, Sengers RCA, Ruitenbeek W, Fischer JC, Bakkeren JAJM, Janssen AJM (1988) Disorders of the mitochondrial respiratory chain: clinical manifestation and diagnostic approach. Eur J Pediatr 148: 92-97
-
(1988)
Eur J Pediatr
, vol.148
, pp. 92-97
-
-
Trijbels, J.M.F.1
Sengers, R.C.A.2
Ruitenbeek, W.3
Fischer, J.C.4
Bakkeren, J.A.J.M.5
Janssen, A.J.M.6
-
61
-
-
0027481838
-
Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies
-
Trijbels JMF, Scholte HR, Ruitenbeek W, Sengers RCA, Janssen AJM. Busch HFM (1993) Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies. Eur J Pediatr 152: 178-184
-
(1993)
Eur J Pediatr
, vol.152
, pp. 178-184
-
-
Trijbels, J.M.F.1
Scholte, H.R.2
Ruitenbeek, W.3
Sengers, R.C.A.4
Janssen, A.J.M.5
Busch, H.F.M.6
-
62
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler HJ, Andreetta F, Moraes CT, Bonilla E, Arnaudo H, Danon MJ, et al (1992) Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42: 209-217
-
(1992)
Neurology
, vol.42
, pp. 209-217
-
-
Tritschler, H.J.1
Andreetta, F.2
Moraes, C.T.3
Bonilla, E.4
Arnaudo, H.5
Danon, M.J.6
-
63
-
-
0010734998
-
Impact of the 25th chromosome on mitochondrial dysfunction in human disease
-
Walker UA, Jean-Francois B, Byrne E (1995) Impact of the 25th chromosome on mitochondrial dysfunction in human disease. J Clin Neuroscience 2: 107-117
-
(1995)
J Clin Neuroscience
, vol.2
, pp. 107-117
-
-
Walker, U.A.1
Jean-Francois, B.2
Byrne, E.3
-
64
-
-
0024163051
-
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
-
Wallace DC, Zheng X, Lott MT, Shoffner JM, Hodge JA, Kelley RI, et al (1988) Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55: 601-610
-
(1988)
Cell
, vol.55
, pp. 601-610
-
-
Wallace, D.C.1
Zheng, X.2
Lott, M.T.3
Shoffner, J.M.4
Hodge, J.A.5
Kelley, R.I.6
-
65
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242: 1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
-
66
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace DC (1992) Diseases of the mitochondrial DNA. Ann Rev Biochem 61: 1175-1212
-
(1992)
Ann Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
67
-
-
0029045299
-
1994 William Allan award address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging
-
Wallace DC (1995) 1994 William Allan award address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 57: 201-223
-
(1995)
Am J Hum Genet
, vol.57
, pp. 201-223
-
-
Wallace, D.C.1
-
68
-
-
0017659070
-
Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue
-
Willems JL, Monnens LAH, Trijbels JMF, Veerkamp JH, Meyer AEFH, van DAM K, van Haelst U (1977) Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 60: 850-857
-
(1977)
Pediatrics
, vol.60
, pp. 850-857
-
-
Willems, J.L.1
Monnens, L.A.H.2
Trijbels, J.M.F.3
Veerkamp, J.H.4
Meyer, A.E.F.H.5
Van Dam, K.6
Van Haelst, U.7
|