Stepien G - Search Results

1

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.

Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G, Mousson B. Dumoulin R, et al. Among authors: stepien g. Mol Cell Probes. 1996 Oct;10(5):389-91. doi: 10.1006/mcpr.1996.0053. Mol Cell Probes. 1996. PMID: 8910895

2

Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion.

Ducluzeau PH, Lachaux A, Bouvier R, Duborjal H, Stepien G, Bozon D, Mousson de Camaret B. Ducluzeau PH, et al. Among authors: stepien g. J Hepatol. 2002 May;36(5):698-703. doi: 10.1016/s0168-8278(02)00021-1. J Hepatol. 2002. PMID: 11983456

3

Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis.

Chabi B, Mousson de Camaret B, Duborjal H, Issartel JP, Stepien G. Chabi B, et al. Among authors: stepien g. Clin Chem. 2003 Aug;49(8):1309-17. doi: 10.1373/49.8.1309. Clin Chem. 2003. PMID: 12881447

4

Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies.

Collombet JM, Mandon G, Dumoulin R, Mousson B, Stepien G. Collombet JM, et al. Among authors: stepien g. Mol Gen Genet. 1996 Nov 27;253(1-2):182-8. doi: 10.1007/s004380050311. Mol Gen Genet. 1996. PMID: 9003302

5

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

Ducluzeau PH, Lachaux A, Bouvier R, Streichenberger N, Stepien G, Mousson B. Ducluzeau PH, et al. Among authors: stepien g. J Hepatol. 1999 Jan;30(1):149-55. doi: 10.1016/s0168-8278(99)80019-1. J Hepatol. 1999. PMID: 9927162

6

Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction.

Ferlin T, Guironnet G, Barnoux MC, Dumoulin R, Stepien G, Mousson B. Ferlin T, et al. Among authors: stepien g. Mol Cell Biochem. 1997 Sep;174(1-2):221-5. Mol Cell Biochem. 1997. PMID: 9309691

7

Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia.

Ville-Ferlin T, Dumoulin R, Stepien G, Matha V, Bady B, Flocard F, Carrier H, Mathieu M, Mousson B. Ville-Ferlin T, et al. Among authors: stepien g. Mol Cell Probes. 1995 Jun;9(3):207-14. doi: 10.1006/mcpr.1995.0031. Mol Cell Probes. 1995. PMID: 7477015

8

Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion.

Tranchant C, Mousson B, Mohr M, Dumoulin R, Welsch M, Weess C, Stepien G, Warter JM. Tranchant C, et al. Among authors: stepien g. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):561-6. doi: 10.1016/0960-8966(93)90116-2. Neuromuscul Disord. 1993. PMID: 8186712

9

Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies.

Collombet JM, Faure-Vigny H, Mandon G, Dumoulin R, Boissier S, Bernard A, Mousson B, Stepien G. Collombet JM, et al. Among authors: stepien g. Mol Cell Biochem. 1997 Mar;168(1-2):73-85. doi: 10.1023/a:1006830807107. Mol Cell Biochem. 1997. PMID: 9062896

10

Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies.

Bonod-Bidaud C, Giraud S, Mandon G, Mousson B, Stepien G. Bonod-Bidaud C, et al. Among authors: stepien g. Exp Cell Res. 1999 Jan 10;246(1):91-7. doi: 10.1006/excr.1998.4302. Exp Cell Res. 1999. PMID: 9882518

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