Resultats de la cerca - Rotig, A

Mitochondrial DNA inheritance in patients with deleted mtDNA per 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. per Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A

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

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Perinatal maturation of rat kidney mitochondria. per 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 per 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). per 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. per 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 per 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 per 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. per 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. per 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. per 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. per 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. per 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 per 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. per 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 per 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 per 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... per 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 per 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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