Rezultati pretrage - Rötig, A

Mitochondrial DNA inheritance in patients with deleted mtDNA od Quintana-Murci, L., Rotig, A., Munnich, A., Rustin, P., Bourgeron, T.

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Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. od Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A

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mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. od Cormier, V, Rötig, A, Geny, C, Cesaro, P, Dufier, J L, Munnich, A

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Perinatal maturation of rat kidney mitochondria. od Prieur, B, Cordeau-Lossouarn, L, Rotig, A, Bismuth, J, Geloso, J P, Delaval, E

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Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia od Hausse, A O, Aggoun, Y, Bonnet, D, Sidi, D, Munnich, A, Rötig, A, Rustin, P

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Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). od Rötig, A, Cormier, V, Chatelain, P, Francois, R, Saudubray, J M, Rustin, P, Munnich, A

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Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes. od Chretien, D, Gallego, J, Barrientos, A, Casademont, J, Cardellach, F, Munnich, A, Rötig, A, Rustin, P

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Heart transplantation in children with mitochondrial cardiomyopathy od BONNET, D, RUSTIN, P, ROTIG, A, LE BIDOIS, J, MUNNICH, A, VOUHE, P, KACHANER, J, SIDI, D

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome od Benit, P, Slama, A, Cartault, F, Giurgea, I, Chretien, D, Lebon, S, Marsac, C, Munnich, A, Rotig, A, Rustin, P

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Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. od Bourgeron, T, Chretien, D, Poggi-Bach, J, Doonan, S, Rabier, D, Letouzé, P, Munnich, A, Rötig, A, Landrieu, P, Rustin, P

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Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. od Rötig, A, Bessis, J L, Romero, N, Cormier, V, Saudubray, J M, Narcy, P, Lenoir, G, Rustin, P, Munnich, A

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. od Rötig, A, Cormier, V, Blanche, S, Bonnefont, J P, Ledeist, F, Romero, N, Schmitz, J, Rustin, P, Fischer, A, Saudubray, J M

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Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. od Manouvrier, S, Rötig, A, Hannebique, G, Gheerbrandt, J D, Royer-Legrain, G, Munnich, A, Parent, M, Grünfeld, J P, Largilliere, C, Lombes, A

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. od von Kleist-Retzow, J C, Cormier-Daire, V, de Lonlay, P, Parfait, B, Chretien, D, Rustin, P, Feingold, J, Rötig, A, Munnich, A

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Mutations in SURF1 are not specifically associated with Leigh syndrome od VON KLEIST-RETZOW, J.-C., YAO, J., TAANMAN, J., CHANTREL, K., CHRETIEN, D., CORMIER-DAIRE, V., ROTIG, A., MUNNICH, A., RUSTIN, P., SHOUBRIDGE, E.

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An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. od Kaukonen, J. A., Amati, P., Suomalainen, A., Rötig, A., Piscaglia, M. G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L., Zeviani, M.

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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency od Lebon, S, Chol, M, Benit, P, Mugnier, C, Chretien, D, Giurgea, I, Kern, I, Girardin, E, Hertz-Pannier, L, de Lonlay, P, Rotig, A, Rustin, P, Munnich, A

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The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency od Chol, M, Lebon, S, Benit, P, Chretien, D, de Lonlay, P, Goldenberg, A, Odent, S, Hertz-Pannier, L, Vincent-Delorme, C, Cormier-Daire, V, Rustin, P, Rotig, A, Munnich, A

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Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke‐like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal deve... od Bouchet, C, Steffann, J, Corcos, J, Monnot, S, Paquis, V, Rötig, A, Lebon, S, Levy, P, Royer, G, Giurgea, I, Gigarel, N, Benachi, A, Dumez, Y, Munnich, A, Bonnefont, J P

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A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders od Rodenburg, R.J.T., Schoonderwoerd, G.C., Tiranti, V., Taylor, R.W., Rötig, A., Valente, L., Invernizzi, F., Chretien, D., He, L., Backx, G.P.B.M., Janssen, K.J.G.M., Chinnery, P.F., Smeets, H.J., de Coo, I.F., van den Heuvel, L.P.

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