-
1
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
-
PEARSON HA, LOBEL JS, KOCOSHIS SA, NAIMAN JL, WINDMILLER J, LAMMI AT, HOFFMAN R, MARSH JC. A new syndrome of refractory sideroblastic anemia 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.A.1
Lobel, J.S.2
Kocoshis, S.A.3
Naiman, J.L.4
Windmiller, J.5
Lammi, A.T.6
Hoffman, R.7
Marsh, J.C.8
-
2
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
MORAES CT, DIMAURO S, ZEVIANI M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
3
-
-
0028118798
-
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder
-
NORBY S, LESTIENNE P, NELSON I, NIELSEN IM, SCHMALBRUCH H, SJO O, WARBURG M. Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. J Med Genet 1994;31:45-50.
-
(1994)
J Med Genet
, vol.31
, pp. 45-50
-
-
Norby, S.1
Lestienne, P.2
Nelson, I.3
Nielsen, I.M.4
Schmalbruch, H.5
Sjo, O.6
Warburg, M.7
-
4
-
-
0026546414
-
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome
-
FISCHEL-GHODSIAN N, BOHLMAN MC, PREZANT TR, GRAHAM JM Jr, CEDERBAUM SD, EDWARDS MJ. Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. Pediatr Res 1992;31:557-560.
-
(1992)
Pediatr Res
, vol.31
, pp. 557-560
-
-
Fischel-Ghodsian, N.1
Bohlman, M.C.2
Prezant, T.R.3
Graham Jr., J.M.4
Cederbaum, S.D.5
Edwards, M.J.6
-
5
-
-
0027466396
-
Differential induction of T cell cytokine mRNA in Epstein-Barr virus-transformed B cell clones: Constitutive and inducible expression of interleukin-4 mRNA
-
TANG H, MATTHES T, CARBALLIDO-PERRIG N, ZUBLER RH, KINDLER V. Differential induction of T cell cytokine mRNA in Epstein-Barr virus-transformed B cell clones: constitutive and inducible expression of interleukin-4 mRNA. Eur J Immunol 1993;23:899-903.
-
(1993)
Eur J Immunol
, vol.23
, pp. 899-903
-
-
Tang, H.1
Matthes, T.2
Carballido-Perrig, N.3
Zubler, R.H.4
Kindler, V.5
-
6
-
-
0029964226
-
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, transmitochondrial cell lines
-
TROUNCE IA, KIM YL, JUN AS, WALLACE DC. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, transmitochondrial cell lines. Methods Enzymol 1996;264:484-509.
-
(1996)
Methods Enzymol
, vol.264
, pp. 484-509
-
-
Trounce, I.A.1
Kim, Y.L.2
Jun, A.S.3
Wallace, D.C.4
-
7
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
RUSTIN P, CHRETIEN D, BOURGERON T, GERARD B, ROTIG A, SAUDUBRAY JM, MUNNICH A. 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
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
Munnich, A.7
-
8
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
ZEVIANI M, MORAES CT, DIMAURO S, NAKASE H, BONILLA E, SCHON EA, ROWLAND LP. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
Rowland, L.P.7
-
9
-
-
0028109484
-
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
-
CASADEMONT J, BARRIENTOS A, CARDELLACH F, et al. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 1988;3:1945-1949.
-
(1988)
Hum Mol Genet
, vol.3
, pp. 1945-1949
-
-
Casademont, J.1
Barrientos, A.2
Cardellach, F.3
-
10
-
-
18544387713
-
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome
-
SHANSKE S, TANG Y, HIRANO M et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. Am J Hum Genet 2002;71:679-683.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 679-683
-
-
Shanske, S.1
Tang, Y.2
Hirano, M.3
-
11
-
-
0025133424
-
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
-
ROTIG A, CORMIER V, BLANCHE S, BONNEFONT JP, LEDEIST F, ROMERO N, SCHMITZ J, RUSTIN P, FISCHER A, SAUDUBRAY JM. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-1608.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
Cormier, V.2
Blanche, S.3
Bonnefont, J.P.4
Ledeist, F.5
Romero, N.6
Schmitz, J.7
Rustin, P.8
Fischer, A.9
Saudubray, J.M.10
-
12
-
-
1842433769
-
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA
-
JACOBS LJ, JONGBLOED RJ, WIJBURG FA, DE KLERK JB, GERAEDTS JP, NIJLAND JG, SCHOLTE HR, de COO IF, SMEETS HJ. Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. J Inherited Metab Dis 2004;27:47-55.
-
(2004)
J Inherited Metab Dis
, vol.27
, pp. 47-55
-
-
Jacobs, L.J.1
Jongbloed, R.J.2
Wijburg, F.A.3
De Klerk, J.B.4
Geraedts, J.P.5
Nijland, J.G.6
Scholte, H.R.7
De Coo, I.F.8
Smeets, H.J.9
-
13
-
-
0031441038
-
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
-
PARFAIT B, PERCHERON A, CHRETIEN D, RUSTIN P, MUNNICH A, ROTIG A. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. Hum Genet 1997;101:247-250.
-
(1997)
Hum Genet
, vol.101
, pp. 247-250
-
-
Parfait, B.1
Percheron, A.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
Rotig, A.6
-
14
-
-
0031467871
-
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia
-
GATTERMANN N, RETZLAFF S, WANG YL, HOFHAUS G, HEINISCH J, AUL C, SCHNEIDER W. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 1997;90:4961-4972.
-
(1997)
Blood
, vol.90
, pp. 4961-4972
-
-
Gattermann, N.1
Retzlaff, S.2
Wang, Y.L.3
Hofhaus, G.4
Heinisch, J.5
Aul, C.6
Schneider, W.7
-
15
-
-
78651123588
-
Studies on ferrochelatase. 2. An investigation of the role of ferrochelatase in the biosynthesis of various haem prosthetic groups
-
PORRA RJ, JONES OT. Studies on ferrochelatase. 2. An investigation of the role of ferrochelatase in the biosynthesis of various haem prosthetic groups. Biochem J 1963;87:186-192.
-
(1963)
Biochem J
, vol.87
, pp. 186-192
-
-
Porra, R.J.1
Jones, O.T.2
-
16
-
-
78651114179
-
Studies on ferrochelatase. 1. Assay and properties of ferrochelatase from a pig-liver mitochondrial extract
-
PORRA RJ, JONES OT. Studies on ferrochelatase. 1. Assay and properties of ferrochelatase from a pig-liver mitochondrial extract. Biochem J 1963;87:181-185.
-
(1963)
Biochem J
, vol.87
, pp. 181-185
-
-
Porra, R.J.1
Jones, O.T.2
-
17
-
-
0016222427
-
Energy-dependent accumulation of iron by isolated rabbit reticulocyte mitochondria
-
ROMSLO I. Energy-dependent accumulation of iron by isolated rabbit reticulocyte mitochondria. Biochim Biophys Acta 1974;357:34-42.
-
(1974)
Biochim Biophys Acta
, vol.357
, pp. 34-42
-
-
Romslo, I.1
-
18
-
-
0016758285
-
Energy-dependent accumulation of iron by isolated rat liver mitochondria. Requirement of reducing equivalents and evidence for a unidirectional flux of Fe (II) across the inner membrane
-
FLATMARK T, ROMSLO I. Energy-dependent accumulation of iron by isolated rat liver mitochondria. Requirement of reducing equivalents and evidence for a unidirectional flux of Fe (II) across the inner membrane. J Biol Chem 1975;250:6433-6438.
-
(1975)
J Biol Chem
, vol.250
, pp. 6433-6438
-
-
Flatmark, T.1
Romslo, I.2
-
19
-
-
0036180269
-
Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes
-
REDDY PL, SHETTY VT, DUTT D et al. Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes. Br J Haematol 2002;116:564-575.
-
(2002)
Br J Haematol
, vol.116
, pp. 564-575
-
-
Reddy, P.L.1
Shetty, V.T.2
Dutt, D.3
-
20
-
-
0038281403
-
Mitochondrial DNA mutations in patients with myelodysplastic syndromes
-
SHIN MG, KAJIGAYA S, LEVIN BC, YOUNG NS. Mitochondrial DNA mutations in patients with myelodysplastic syndromes. Blood 2003;101:3118-3125.
-
(2003)
Blood
, vol.101
, pp. 3118-3125
-
-
Shin, M.G.1
Kajigaya, S.2
Levin, B.C.3
Young, N.S.4
-
21
-
-
0032533927
-
MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase
-
BROKER S, MEUNIER B, RICH P, GATTERMANN N, HOFHAUS G. MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase. Eur J Biochem 1998;258:132-138.
-
(1998)
Eur J Biochem
, vol.258
, pp. 132-138
-
-
Broker, S.1
Meunier, B.2
Rich, P.3
Gattermann, N.4
Hofhaus, G.5
-
23
-
-
0032518849
-
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes
-
CHRETIEN D, GALLEGO J, BARRIENTOS A, CASADEMONT J, CARDELLACH F, MUNNICH A, ROTIG A, RUSTIN P. Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes. Biochem J 1998;329(Pt 2):249-254.
-
(1998)
Biochem J
, vol.329
, Issue.2 PART
, pp. 249-254
-
-
Chretien, D.1
Gallego, J.2
Barrientos, A.3
Casademont, J.4
Cardellach, F.5
Munnich, A.6
Rotig, A.7
Rustin, P.8
|