-
1
-
-
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
-
2
-
-
0028286006
-
Molecular basis of mitochondrial DNA disease
-
Brown MD, Wallace DA. Molecular basis of mitochondrial DNA disease. J Bioenerg Biomembr 1994;26:273-89.
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 273-289
-
-
Brown, M.D.1
Wallace, D.A.2
-
3
-
-
0027496432
-
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
-
Bodnar Ag, Cooper JM, Holt IJ, Leonard JV, Schapira AHV. 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.1
Cooper, J.M.2
Holt, I.J.3
Leonard, J.V.4
Schapira, A.H.V.5
-
4
-
-
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 RN, Aprille JR, Halperin J, Levy H, DeLong GR. 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
Levy, H.4
DeLong, G.R.5
-
5
-
-
0026015896
-
mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler 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
Tritschler, H.-J.3
-
6
-
-
0026704872
-
Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts
-
Telerman-Toppet N, Biarent D, Bouton J-M, et al. Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts. J Inherited Metab Dis 1992;15:323-6.
-
(1992)
J Inherited Metab Dis
, vol.15
, pp. 323-326
-
-
Telerman-Toppet, N.1
Biarent, D.2
Bouton, J.-M.3
-
7
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler H-J, Andreetta F, Moraes CT, 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
-
8
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
Mazziotta M, 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.1
Ricci, E.2
Bertini, E.3
-
11
-
-
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, et al. Variation in mitochondrial DNA levels in muscle from normal controls - Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherited Metab Dis 1995;18:4-20.
-
(1995)
J Inherited Metab Dis
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
-
12
-
-
0024425725
-
Rapid segregation of heteroplasmic bovine mitochondria
-
Ashley MV, Laipis PJ, Hauswirth WW. Rapid segregation of heteroplasmic bovine mitochondria. Nucl Acids Res 1989;17:7325-31.
-
(1989)
Nucl Acids Res
, vol.17
, pp. 7325-7331
-
-
Ashley, M.V.1
Laipis, P.J.2
Hauswirth, W.W.3
-
13
-
-
0028931797
-
Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication
-
Bodnar AG, Cooper JM, Leonard JV, Schapira AHV. Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication. Biochem J 1995;305:817-22.
-
(1995)
Biochem J
, vol.305
, pp. 817-822
-
-
Bodnar, A.G.1
Cooper, J.M.2
Leonard, J.V.3
Schapira, A.H.V.4
-
14
-
-
0025189805
-
Changes in the number of mitochondrial genomes during human development
-
Heerdt BJ, Augenlicht LH. Changes in the number of mitochondrial genomes during human development. Exp Cell Res 1990; 186: 54-9.
-
(1990)
Exp Cell Res
, vol.186
, pp. 54-59
-
-
Heerdt, B.J.1
Augenlicht, L.H.2
-
15
-
-
0028041543
-
Mitochondrial gene expression during bovine cardiac growth and development
-
Marin-Garcia, Ananthakrishnan R, Agrawal N, Goldenthal MJ. Mitochondrial gene expression during bovine cardiac growth and development. J Mol Cell Cardiol 1994;26:1029-36.
-
(1994)
J Mol Cell Cardiol
, vol.26
, pp. 1029-1036
-
-
Ananthakrishnan, R.1
Agrawal, N.2
Goldenthal, M.J.3
-
16
-
-
0026521238
-
Cloning of cDNAs for Fanconi's anemia by functional complementation
-
Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi's anemia by functional complementation. Nature 1992;356:763-7.
-
(1992)
Nature
, vol.356
, pp. 763-767
-
-
Strathdee, C.A.1
Gavish, H.2
Shannon, W.R.3
Buchwald, M.4
-
17
-
-
0026697582
-
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
-
Legerski R, Peterson C. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 1992; 359:70-3.
-
(1992)
Nature
, vol.359
, pp. 70-73
-
-
Legerski, R.1
Peterson, C.2
|