-
1
-
-
0029587469
-
Molecular genetic aspects of human mitochondrial disorders
-
Larsson, N.G. and Clayton, D.A. (1995) Molecular genetic aspects of human mitochondrial disorders. Annu. Rev. Genet., 29, 151-178.
-
(1995)
Annu. Rev. Genet.
, vol.29
, pp. 151-178
-
-
Larsson, N.G.1
Clayton, D.A.2
-
2
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle D. (eds), McGraw-Hill, New York
-
Shoffner, J.M. and Wallace D.C. (1995) Oxidative phosphorylation diseases. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, Vol. I, pp. 1535-1609.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, vol.1
, pp. 1535-1609
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
3
-
-
0030465635
-
Mitochondrial genetics and human disease
-
Grossman, L.I. and and Shoubridge, E.A. (1996) Mitochondrial genetics and human disease, BioEssays, 18, 983-991.
-
(1996)
BioEssays
, vol.18
, pp. 983-991
-
-
Grossman, L.I.1
Shoubridge, E.A.2
-
4
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt, I.J., Harding, A.E. and Morgan-Hughes, J.A. (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
-
5
-
-
0027145131
-
Leu(UUR) gene an etiologic hotspot?
-
Leu(UUR) gene an etiologic hotspot? J. Clin. Invest., 92, 2906-2915.
-
(1993)
J. Clin. Invest.
, vol.92
, pp. 2906-2915
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Jansen, C.4
Hirano, M.5
Rao, N.6
Lovelace, R.E.7
Rowland, L.R.8
Schon, E.A.9
Dimauro, S.10
-
6
-
-
0027161003
-
A mitochondrial tRNA anticodon swap associated with a muscle disease
-
Moraes, C.T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E.A. and DiMauro S. (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease. Nature Genet., 4, 284-287.
-
(1993)
Nature Genet.
, vol.4
, pp. 284-287
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Ionasescu, V.4
Schon, E.A.5
DiMauro, S.6
-
7
-
-
0029658242
-
leu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
-
leu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum. Mol. Genet., 5, 1835-1840.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1835-1840
-
-
Fu, K.1
Hartlen, R.2
Johns, T.3
Genge, A.4
Karpati, G.5
Shoubridge, E.A.6
-
8
-
-
0031020420
-
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
-
Weber, K., Wilson, J.N., Taylor, L., Brierley, E., Johnson, M.A., Turnbull, D.M. and Bindoff, L.A. (1997) A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am. J. Hum. Genet., 60, 373-380.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 373-380
-
-
Weber, K.1
Wilson, J.N.2
Taylor, L.3
Brierley, E.4
Johnson, M.A.5
Turnbull, D.M.6
Bindoff, L.A.7
-
9
-
-
0030003760
-
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
-
Keightley, J.A., Hoffbuh, K.C., Burton, M.D., Salas, V.M., Johnston, W.S.W., Penn, A.M.W., Buist, N.R.M. and Kennaway, N.G. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nature Genet., 12, 410-415.
-
(1996)
Nature Genet.
, vol.12
, pp. 410-415
-
-
Keightley, J.A.1
Hoffbuh, K.C.2
Burton, M.D.3
Salas, V.M.4
Johnston, W.S.W.5
Penn, A.M.W.6
Buist, N.R.M.7
Kennaway, N.G.8
-
10
-
-
0025345775
-
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
-
Larsson, N.G, Holme, E., Kristiansson, B., Oldfors, A. and 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
-
11
-
-
0027280499
-
Noninvasive diagnosis of the MELAS syndrome from blood DNA
-
Poulton, J. and Morten, K. Noninvasive diagnosis of the MELAS syndrome from blood DNA. Ann. Neurol., 34, 116.
-
Ann. Neurol.
, vol.34
, pp. 116
-
-
Poulton, J.1
Morten, K.2
-
12
-
-
0008718521
-
The satellite cell
-
Engel, A.G. and Bankier, B.Q. (eds), McGraw-Hill, New York
-
Manzanet, R. and Franzani-Armstrong C. (1986) The satellite cell. In Engel, A.G. and Bankier, B.Q. (eds), Myology. McGraw-Hill, New York, pp. 285-307.
-
(1986)
Myology
, pp. 285-307
-
-
Manzanet, R.1
Franzani-Armstrong, C.2
-
13
-
-
0024321834
-
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome
-
Moraes, C.T., Schon, E.A., DiMauro, S. and Miranda, A.F. (1989) Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem. Biophys. Res. Commun., 160, 765-771.
-
(1989)
Biochem. Biophys. Res. Commun.
, vol.160
, pp. 765-771
-
-
Moraes, C.T.1
Schon, E.A.2
DiMauro, S.3
Miranda, A.F.4
-
14
-
-
0009813223
-
Molecular histology of mitochondrial diseases
-
DiMauro, S. and Wallace, D.C. (eds), Raven Press, New York
-
Shoubridge, E.A. (1993) Molecular histology of mitochondrial diseases. In DiMauro, S. and Wallace, D.C. (eds), Mitochondrial DNA in Human Pathology. Raven Press, New York, pp. 109-123.
-
(1993)
Mitochondrial DNA in Human Pathology
, pp. 109-123
-
-
Shoubridge, E.A.1
-
15
-
-
0030926104
-
Reversal of a mitochondrial DNA defect in human skeletal muscle
-
Clark, K.M., Bindoff, L.A., Lightowlers R.N., Andrews, R.M., Griffiths,P.G., Johnson, M.A., Brierley, E.J. and Tumbull, D.M. (1997) Reversal of a mitochondrial DNA defect in human skeletal muscle. Nature Genet., 16, 222-224.
-
(1997)
Nature Genet.
, vol.16
, pp. 222-224
-
-
Clark, K.M.1
Bindoff, L.A.2
Lightowlers, R.N.3
Andrews, R.M.4
Griffiths, P.G.5
Johnson, M.A.6
Brierley, E.J.7
Tumbull, D.M.8
-
16
-
-
0343624979
-
Inherited Mendelian defects
-
DiMauro, S. and Wallace, D.C. (eds), Raven Press, New York
-
Zeviani, M. and Tiranti, M. (1993) Inherited Mendelian defects. In DiMauro, S. and Wallace, D.C. (eds), Mitochondrial DNA in Human Pathology. Raven Press, New York, pp. 85-95.
-
(1993)
Mitochondrial DNA in Human Pathology
, pp. 85-95
-
-
Zeviani, M.1
Tiranti, M.2
-
17
-
-
0029834809
-
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
-
Moslemi, A.-R., Melberg, A., Holme, E. and Oldfors, A. (1996) Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann. Neurol., 40, 707-713.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 707-713
-
-
Moslemi, A.-R.1
Melberg, A.2
Holme, E.3
Oldfors, A.4
-
18
-
-
0026621445
-
Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet., 51, 1187-1200.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.A.3
-
19
-
-
0026608057
-
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in the levels of upstream and downstream mature transcripts
-
Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S.T., Nonaka, I., Angelini, C. and Attardi, G. (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in the levels of upstream and downstream mature transcripts. Proc. Natl Acad. Sci. USA, 89, 4221-4225.
-
(1992)
Proc. Natl Acad. Sci. USA
, vol.89
, pp. 4221-4225
-
-
Chomyn, A.1
Martinuzzi, A.2
Yoneda, M.3
Daga, A.4
Hurko, O.5
Johns, D.6
Lai, S.T.7
Nonaka, I.8
Angelini, C.9
Attardi, G.10
-
20
-
-
0030059554
-
N-CAM is expressed in mature extraocular muscles in a pattern conserved among three species
-
Mcloon, L.K. and Wirtschafter, J.D. (1996) N-CAM is expressed in mature extraocular muscles in a pattern conserved among three species. Invest. Ophthalmol, Visual Sci., 37, 318-327.
-
(1996)
Invest. Ophthalmol, Visual Sci.
, vol.37
, pp. 318-327
-
-
Mcloon, L.K.1
Wirtschafter, J.D.2
-
21
-
-
0029946650
-
Elucidation of the molecular actions of NCAM and structurally related cell adhesion molecules
-
Baldwin, T.J., Fazeli, M.S., Doherty, P. and Walsh, F.S. (1996) Elucidation of the molecular actions of NCAM and structurally related cell adhesion molecules. J. Cell Biochem., 61, 502-513.
-
(1996)
J. Cell Biochem.
, vol.61
, pp. 502-513
-
-
Baldwin, T.J.1
Fazeli, M.S.2
Doherty, P.3
Walsh, F.S.4
-
22
-
-
0028808771
-
Expression of NCAM (neural cell adhesion molecule) in mitochondrial myopathy
-
Heuß, D., Engelhardt, H. and Neundörfer, B. (1995) Expression of NCAM (neural cell adhesion molecule) in mitochondrial myopathy. Clin. Neuropathol., 14, 331-336.
-
(1995)
Clin. Neuropathol.
, vol.14
, pp. 331-336
-
-
Heuß, D.1
Engelhardt, H.2
Neundörfer, B.3
-
23
-
-
0020554552
-
Pathophysiology of muscle fiber necrosis induced by bupivacaine hydrochloride (Marcaine)
-
Nonaka, I., Takagi, A., Ishiura, S., Nakase, H. and Sugita, H. (1983) Pathophysiology of muscle fiber necrosis induced by bupivacaine hydrochloride (Marcaine). Acta Neuropathol., 60, 167-174.
-
(1983)
Acta Neuropathol.
, vol.60
, pp. 167-174
-
-
Nonaka, I.1
Takagi, A.2
Ishiura, S.3
Nakase, H.4
Sugita, H.5
-
24
-
-
0027933842
-
Gene transfer into skeletal muscles by isogenic myoblasts
-
Huard, J., Acsadi, G., Jani, A., Massie, B. and Karpati, G. (1994) Gene transfer into skeletal muscles by isogenic myoblasts. Hum. Gene Ther., 5, 949-958.
-
(1994)
Hum. Gene Ther.
, vol.5
, pp. 949-958
-
-
Huard, J.1
Acsadi, G.2
Jani, A.3
Massie, B.4
Karpati, G.5
-
25
-
-
0020501939
-
Ultrastructural changes after concentric and eccentric contraction of human muscles
-
Newham, D.J., McPhail, G., Mills, K.R. and Edwards, R.H.T. (1983) Ultrastructural changes after concentric and eccentric contraction of human muscles. J. Neurol. Sci., 61, 109-122.
-
(1983)
J. Neurol. Sci.
, vol.61
, pp. 109-122
-
-
Newham, D.J.1
McPhail, G.2
Mills, K.R.3
Edwards, R.H.T.4
-
26
-
-
3242855896
-
Analysis of DNA sequence variation in single cells
-
Li, H., Cui, X. and Arnheim, N. (1991) Analysis of DNA sequence variation in single cells. Methods, 2, 49-59.
-
(1991)
Methods
, vol.2
, pp. 49-59
-
-
Li, H.1
Cui, X.2
Arnheim, N.3
-
27
-
-
0025094068
-
N-CAM is a target cell surface antigen for the purification of muscle cells for myoblast transfer therapy
-
Walsh, F.S. (1989) N-CAM is a target cell surface antigen for the purification of muscle cells for myoblast transfer therapy. Adv. Exp. Med. Biol., 280, 41-46.
-
(1989)
Adv. Exp. Med. Biol.
, vol.280
, pp. 41-46
-
-
Walsh, F.S.1
-
28
-
-
0028942037
-
Late-onset mitochondrial myopathy
-
Johnston, W., Karpati, K., Carpenter, S., Arnold, D. and Shoubridge, E.A. (1995) Late-onset mitochondrial myopathy. Ann. Neurol., 37, 16-23.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 16-23
-
-
Johnston, W.1
Karpati, K.2
Carpenter, S.3
Arnold, D.4
Shoubridge, E.A.5
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