AAAAAA
Results: 1-25/48
Authors:
Larsson, NG
Rustin, P
Citation: Ng. Larsson et P. Rustin, Animal models for respiratory chain disease, TRENDS MO M, 7(12), 2001, pp. 578-581
Authors:
Bonnet, D
Rustin, P
Rotig, A
Le Bidois, J
Munnich, A
Vouhe, P
Kachaner, J
Sidi, D
Citation: D. Bonnet et al., Heart transplantation in children with mitochondrial cardiomyopathy, HEART, 86(5), 2001, pp. 570-571
Authors:
Geromel, V
Cao, A
Briane, D
Vassy, J
Rotig, A
Rustin, P
Coudert, R
Rigaut, JP
Munnich, A
Taillandier, E
Citation: V. Geromel et al., Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes, ANTISENSE N, 11(3), 2001, pp. 175-180
Authors:
Geromel, V
Kadhom, N
Ceballos-Picot, I
Chretien, D
Munnich, A
Rotig, A
Rustin, P
Citation: V. Geromel et al., Human cultured skin fibroblasts survive profound inherited ubiquinone depletion, FREE RAD RE, 35(1), 2001, pp. 11-21
Authors:
de Lonlay, P
Valnot, I
Barrientos, A
Gorbatyuk, M
Tzagoloff, A
Taanman, JW
Benayoun, E
Chretien, D
Kadhom, N
Lombes, A
de Baulny, HO
Niaudet, P
Munnich, M
Rustin, P
Rotig, A
Citation: P. De Lonlay et al., A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure, NAT GENET, 29(1), 2001, pp. 57-60
Authors:
Puccio, H
Simon, D
Cossee, M
Criqui-Filipe, P
Tiziano, F
Melki, J
Hindelang, C
Matyas, R
Rustin, P
Koenig, M
Citation: H. Puccio et al., Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits, NAT GENET, 27(2), 2001, pp. 181-186
Authors:
Chantrel-Groussard, K
Geromel, V
Puccio, H
Koenig, M
Munnich, A
Rotig, A
Rustin, P
Citation: K. Chantrel-groussard et al., Disabled early recruitment of antioxidant defenses in Friedreich's ataxia, HUM MOL GEN, 10(19), 2001, pp. 2061-2067
Authors:
Geromel, V
Kadhom, N
Cebalos-Picot, I
Ouari, O
Polidori, A
Munnich, A
Rotig, A
Rustin, P
Citation: V. Geromel et al., Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA, HUM MOL GEN, 10(11), 2001, pp. 1221-1228
Authors:
Sorensen, L
Ekstrand, M
Silva, JP
Lindqvist, E
Xu, BJ
Rustin, P
Olson, L
Larsson, NG
Citation: L. Sorensen et al., Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice, J NEUROSC, 21(20), 2001, pp. 8082-8090
Authors:
Amiel, J
Gigarel, N
Benacki, A
Benit, P
Valnot, I
Parfait, W
Von Kleist-Retzow, JC
Raclin, V
Hadj-Rabia, S
Dumez, Y
Rustin, P
Bonnefont, JP
Munnich, A
Rotig, A
Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604
Authors:
Gauthier-Villars, M
Landrieu, P
Cormier-Daire, V
Jacquemin, E
Chretien, D
Rotig, A
Rustin, P
Munnich, A
de Lonlay, P
Citation: M. Gauthier-villars et al., Respiratory chain deficiency in Alpers syndrome, NEUROPEDIAT, 32(3), 2001, pp. 150-152
Authors:
Munnich, A
Rustin, P
Citation: A. Munnich et P. Rustin, Clinical spectrum and diagnosis of mitochondrial disorders, AM J MED G, 106(1), 2001, pp. 4-17
Authors:
Wittig, I
Augstein, P
Brown, GK
Fujii, T
Rotig, A
Rustin, P
Munnich, A
Seibel, P
Thorburn, D
Wissinger, B
Tamboom, K
Metspalu, A
Lamantea, E
Zeviani, M
Wehnert, MS
Citation: I. Wittig et al., Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain, J INH MET D, 24(1), 2001, pp. 15-27
Authors:
Lerman-Sagie, T
Rustin, P
Lev, D
Yanoov, M
Leshinsky-Silver, E
Sagie, A
Ben-Gal, T
Munnich, A
Citation: T. Lerman-sagie et al., Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone, J INH MET D, 24(1), 2001, pp. 28-34
Authors:
Wang, JM
Silva, JP
Gustafsson, CM
Rustin, P
Larsson, NG
Citation: Jm. Wang et al., Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression, P NAS US, 98(7), 2001, pp. 4038-4043
Authors:
Von Kleist-Retzow, JC
Yao, JB
Taanman, JW
Chantrel, K
Chretien, D
Cormier-Daire, V
Rotig, A
Munnich, A
Rustin, P
Shoubridge, EA
Citation: Jc. Von Kleist-retzow et al., Mutations in SURF1 are not specifically associated with Leigh syndrome, J MED GENET, 38(2), 2001, pp. 109-113
Authors:
Jacotot, E
Ferri, KF
El Hamel, C
Brenner, C
Druillennec, S
Hoebeke, J
Rustin, P
Metivier, D
Lenoir, C
Geuskens, M
Vieira, HLA
Loeffler, M
Belzacq, AS
Briand, JP
Zamzami, N
Edelman, L
Xie, ZH
Reed, JC
Roques, BP
Kroemer, G
Citation: E. Jacotot et al., Control of mitochondrial membrane permeabilization by adenine nucleotide translocator interacting with HIV-1 viral protein R and Bcl-2, J EXP MED, 193(4), 2001, pp. 509-519
Authors:
Rotig, A
Chantrel-Groussard, K
Munnich, A
Rustin, P
Citation: A. Rotig et al., Expression study of genes involved in iron metabolism in human tissues, BIOC BIOP R, 281(3), 2001, pp. 804-809
Authors:
Gimenez-Roqueplo, AP
Favier, J
Rustin, P
Mourad, JJ
Plouin, PF
Corvol, P
Rotig, A
Jeunemaitre, X
Citation: Ap. Gimenez-roqueplo et al., The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway, AM J HU GEN, 69(6), 2001, pp. 1186-1197
Authors:
Benit, P
Chretien, D
Kadhom, N
de Lonlay-Debeney, P
Cormier-Daire, V
Cabral, A
Peudenier, S
Rustin, P
Munnich, A
Rotig, A
Citation: P. Benit et al., Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, AM J HU GEN, 68(6), 2001, pp. 1344-1352
Authors:
von Kleist-Retzow, JC
Chantrel-Groussard, K
Rotig, A
Munnich, R
Rustin, P
Citation: Jc. Von Kleist-retzow et al., Current diagnosis and treatment, DEUT MED WO, 125(10), 2000, pp. 293-295
Authors:
Rotig, A
Valnot, I
Mugnier, C
Rustin, P
Munnich, A
Citation: A. Rotig et al., Screening human EST database for identification of candidate genes in respiratory chain deficiency, MOL GEN MET, 69(3), 2000, pp. 223-232
Authors:
Jouvet, P
Rustin, P
Taylor, DL
Pocock, JM
Felderhoff-Mueser, U
Mazarakis, ND
Sarraf, C
Joashi, U
Kozma, M
Greenwood, K
Edwards, AD
Mehmet, H
Citation: P. Jouvet et al., Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: Implications for neurological impairment associated with maple syrup urine disease, MOL BIOL CE, 11(5), 2000, pp. 1919-1932
Authors:
Valnot, I
von Kleist-Retzow, JC
Barrientos, A
Gorbatyuk, M
Taanman, JW
Mehaye, B
Rustin, P
Tzagoloff, A
Munnich, A
Rotig, A
Citation: I. Valnot et al., A mutation in the human heme A : farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency, HUM MOL GEN, 9(8), 2000, pp. 1245-1249
Authors:
Blanche, S
Tardieu, M
Rustin, P
Citation: S. Blanche et al., Mitochondrial dysfunction and perinatal exposure to antiretroviral nucleosidic analogues, ARCH PED, 7(1), 2000, pp. 7-9