Rustin P - Search Results

1

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Marelli C, Hamel C, Quiles M, Carlander B, Larrieu L, Delettre C, Sarzi E, Chretien D, Rustin P, Koenig M, Guissart C. Marelli C, et al. Among authors: rustin p. Neurol Genet. 2018 Mar 20;4(2):e225. doi: 10.1212/NXG.0000000000000225. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29564393 Free PMC article. No abstract available.

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

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

Chretien D, Bourgeron T, Rötig A, Munnich A, Rustin P. Chretien D, et al. Among authors: rustin p. Biochem Biophys Res Commun. 1990 Nov 30;173(1):26-33. doi: 10.1016/s0006-291x(05)81016-2. Biochem Biophys Res Commun. 1990. PMID: 2256918

4

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Bourgeron T, et al. Among authors: rustin p. Nat Genet. 1995 Oct;11(2):144-9. doi: 10.1038/ng1095-144. Nat Genet. 1995. PMID: 7550341

5

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Rötig A, et al. Among authors: rustin p. Hum Mol Genet. 1995 Aug;4(8):1327-30. doi: 10.1093/hmg/4.8.1327. Hum Mol Genet. 1995. PMID: 7581370

6

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: rustin p. J Biol Chem. 1993 Sep 15;268(26):19369-76. J Biol Chem. 1993. PMID: 8396136 Free article.

7

Craniofacial anomalies and malformations in respiratory chain deficiency.

Cormier-Daire V, Rustin P, Rötig A, Chrétien D, Le Merrer M, Belli D, Le Goff A, Hubert P, Ricour C, Munnich A. Cormier-Daire V, et al. Among authors: rustin p. Am J Med Genet. 1996 Dec 30;66(4):457-63. doi: 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8989468

8

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. Mol Cell Biochem. 1997 Sep;174(1-2):115-9. Mol Cell Biochem. 1997. PMID: 9309674

9

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.

Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P. Rötig A, et al. Among authors: rustin p. Nat Genet. 1997 Oct;17(2):215-7. doi: 10.1038/ng1097-215. Nat Genet. 1997. PMID: 9326946

10

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

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