Rustin P - Search Results

1

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: rustin p. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398

2

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.

Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: rustin p. Biochem Biophys Res Commun. 1992 Jul 15;186(1):16-23. doi: 10.1016/s0006-291x(05)80769-7. Biochem Biophys Res Commun. 1992. PMID: 1321601

3

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.

Bourgeron T, Chrétien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: rustin p. Prenat Diagn. 1992 Jun;12(6):548-9. doi: 10.1002/pd.1970120614. Prenat Diagn. 1992. PMID: 1325051 No abstract available.

4

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

Burgeois M, Goutieres F, Chretien D, Rustin P, Munnich A, Aicardi J. Burgeois M, et al. Among authors: rustin p. Brain Dev. 1992 Nov;14(6):404-8. doi: 10.1016/s0387-7604(12)80349-4. Brain Dev. 1992. PMID: 1492653

5

Clinical aspects of mitochondrial disorders.

Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Munnich A, et al. Among authors: rustin p. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005

6

[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy].

Sidi D, Le Bidois J, Piéchaud JF, Da Cruz E, Marchal C, Gournay V, Kachaner J, Rustin P, Chrétien D, Munnich A. Sidi D, et al. Among authors: rustin p. Arch Mal Coeur Vaiss. 1992 May;85(5):541-6. Arch Mal Coeur Vaiss. 1992. PMID: 1530392 French.

7

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Among authors: rustin p. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

8

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A. Bonnefont JP, et al. Among authors: rustin p. J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0. J Pediatr. 1992. PMID: 1640293

9

Assessment of the mitochondrial respiratory chain.

Rustin P, Chretien D, Bourgeron T, Wucher A, Saudubray JM, Rotig A, Munnich A. Rustin P, et al. Lancet. 1991 Jul 6;338(8758):60. doi: 10.1016/0140-6736(91)90057-v. Lancet. 1991. PMID: 1676118 No abstract available.

10

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, et al. Rötig A, et al. Among authors: rustin p. J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881. J Clin Invest. 1990. PMID: 2243133 Free PMC article.

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