von Kleist-Retzow JC - Search Results

1

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chrétien D, Rötig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A. de Lonlay-Debeney P, et al. J Pediatr. 2000 Feb;136(2):209-14. doi: 10.1016/s0022-3476(00)70103-x. J Pediatr. 2000. PMID: 10657827

2

Antenatal manifestations of mitochondrial respiratory chain deficiency.

von Kleist-Retzow JC, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J, Saada P, Dumez Y, Brunelle F, Saudubray JM, Chrétien D, Rötig A, Rustin P, Munnich A, De Lonlay P. von Kleist-Retzow JC, et al. J Pediatr. 2003 Aug;143(2):208-12. doi: 10.1067/S0022-3476(03)00130-6. J Pediatr. 2003. PMID: 12970634

3

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. Biochem Biophys Res Commun. 1997 Jul 30;236(3):643-6. doi: 10.1006/bbrc.1997.7024. Biochem Biophys Res Commun. 1997. PMID: 9245705

4

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

5

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. Am J Hum Genet. 1998 Aug;63(2):428-35. doi: 10.1086/301957. Am J Hum Genet. 1998. PMID: 9683589 Free PMC article.

6

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.

von Kleist-Retzow JC, Vial E, Chantrel-Groussard K, Rötig A, Munnich A, Rustin P, Taanman JW. von Kleist-Retzow JC, et al. Biochim Biophys Acta. 1999 Sep 20;1455(1):35-44. doi: 10.1016/s0925-4439(99)00050-2. Biochim Biophys Acta. 1999. PMID: 10524227 Free article.

7

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rötig A. Valnot I, et al. Hum Mol Genet. 2000 May 1;9(8):1245-9. doi: 10.1093/hmg/9.8.1245. Hum Mol Genet. 2000. PMID: 10767350

8

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.

Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A. Amiel J, et al. Prenat Diagn. 2001 Jul;21(7):602-4. doi: 10.1002/pd.126. Prenat Diagn. 2001. PMID: 11494300

9

For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?

Rustin P, von Kleist-Retzow JC, Vajo Z, Rotig A, Munnich A. Rustin P, et al. Mech Ageing Dev. 2000 Apr 14;114(3):201-6. doi: 10.1016/s0047-6374(00)00102-0. Mech Ageing Dev. 2000. PMID: 10802124 Review.

10

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A. De Leersnyder H, et al. J Pediatr. 2001 Jul;139(1):111-6. doi: 10.1067/mpd.2001.115018. J Pediatr. 2001. PMID: 11445803

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