Rustin P - Search Results

1

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A. Parfait B, et al. Among authors: rustin p. Hum Genet. 1997 Dec;101(2):247-50. doi: 10.1007/s004390050625. Hum Genet. 1997. PMID: 9402980

2

Inborn errors of complex II--unusual human mitochondrial diseases.

Rustin P, Rötig A. Rustin P, et al. Biochim Biophys Acta. 2002 Jan 17;1553(1-2):117-22. doi: 10.1016/s0005-2728(01)00228-6. Biochim Biophys Acta. 2002. PMID: 11803021 Free article. Review.

3

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.

Rustin P, Munnich A, Rötig A. Rustin P, et al. Eur J Hum Genet. 2002 May;10(5):289-91. doi: 10.1038/sj.ejhg.5200793. Eur J Hum Genet. 2002. PMID: 12082502 Review.

4

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

De Lonlay P, Mugnier C, Sanlaville D, Chantrel-Groussard K, Bénit P, Lebon S, Chrétien D, Kadhom N, Saker S, Gyapay G, Romana S, Weissenbach J, Munnich A, Rustin P, Rötig A. De Lonlay P, et al. Among authors: rustin p. Hum Mol Genet. 2002 Dec 15;11(26):3273-81. doi: 10.1093/hmg/11.26.3273. Hum Mol Genet. 2002. PMID: 12471054

5

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

6

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.

Chretien D, Slama A, Brière JJ, Munnich A, Rötig A, Rustin P. Chretien D, et al. Among authors: rustin p. Curr Med Chem. 2004 Jan;11(2):233-9. doi: 10.2174/0929867043456151. Curr Med Chem. 2004. PMID: 14754419 Review.

7

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.

Rustin P, Munnich A, Rötig A. Rustin P, et al. Methods Enzymol. 2004;382:81-8. doi: 10.1016/S0076-6879(04)82005-6. Methods Enzymol. 2004. PMID: 15047097 Review. No abstract available.

8

[Mitochondrial disorders].

Munnich A, de Lonlay P, Rötig A, Rustin P. Munnich A, et al. Among authors: rustin p. Bull Acad Natl Med. 2009 Jan;193(1):19-41; discussion 41-3. Bull Acad Natl Med. 2009. PMID: 19718979 French.

9

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.

10

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.

Rötig A, Bourgeron T, Rustin P, Munnich A. Rötig A, et al. Among authors: rustin p. Muscle Nerve Suppl. 1995;3:S159-64. doi: 10.1002/mus.880181431. Muscle Nerve Suppl. 1995. PMID: 7541513

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