Parfait B - Search Results

1

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.

Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chrétien D, Rötig A, Rabier D, Saudubray JM, Rustin P, Munnich A. Parfait B, et al. Eur J Pediatr. 1999 Jan;158(1):55-8. doi: 10.1007/s004310051009. Eur J Pediatr. 1999. PMID: 9950309

2

Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.

Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, Munnich A. Birch-Machin MA, et al. Among authors: parfait b. Biochem Biophys Res Commun. 1996 Mar 7;220(1):57-62. doi: 10.1006/bbrc.1996.0356. Biochem Biophys Res Commun. 1996. PMID: 8602857

3

Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells.

Rustin P, Parfait B, Chretien D, Bourgeron T, Djouadi F, Bastin J, Rötig A, Munnich A. Rustin P, et al. Among authors: parfait b. J Biol Chem. 1996 Jun 21;271(25):14785-90. doi: 10.1074/jbc.271.25.14785. J Biol Chem. 1996. PMID: 8663005 Free article.

4

The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria.

Geromel V, Parfait B, von Kleist-Retzow JC, Chretien D, Munnich A, Rötig A, Rustin P. Geromel V, et al. Among authors: parfait b. Biochem Biophys Res Commun. 1997 Jul 30;236(3):643-6. doi: 10.1006/bbrc.1997.7024. Biochem Biophys Res Commun. 1997. PMID: 9245705

5

Sequence and structure of the human OXA1L gene and its upstream elements.

Rötig A, Parfait B, Heidet L, Dujardin G, Rustin P, Munnich A. Rötig A, et al. Among authors: parfait b. Biochim Biophys Acta. 1997 Jul 10;1361(1):6-10. doi: 10.1016/s0925-4439(97)00031-8. Biochim Biophys Acta. 1997. PMID: 9247084 Free article.

6

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.

Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rötig A. Rustin P, et al. Among authors: parfait b. Biochim Biophys Acta. 1997 Aug 22;1361(2):185-97. doi: 10.1016/s0925-4439(97)00035-5. Biochim Biophys Acta. 1997. PMID: 9300800 Free article. Review.

7

Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes.

Rustin P, Chretien D, Parfait B, Rötig A, Munnich A. Rustin P, et al. Among authors: parfait b. Mol Cell Biochem. 1997 Sep;174(1-2):115-9. Mol Cell Biochem. 1997. PMID: 9309674

8

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. Hum Genet. 1997 Dec;101(2):247-50. doi: 10.1007/s004390050625. Hum Genet. 1997. PMID: 9402980

9

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.

Parfait B, Rustin P, Munnich A, Rötig A. Parfait B, et al. Biochem Biophys Res Commun. 1998 Jun 9;247(1):57-9. doi: 10.1006/bbrc.1998.8666. Biochem Biophys Res Commun. 1998. PMID: 9636653

10

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

von Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, Parfait B, Chretien D, Rustin P, Feingold J, Rötig A, Munnich A. von Kleist-Retzow JC, et al. Among authors: parfait b. Am J Hum Genet. 1998 Aug;63(2):428-35. doi: 10.1086/301957. Am J Hum Genet. 1998. PMID: 9683589 Free PMC article.

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