Torthaí cuardaigh - Rotig, A

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

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

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Perinatal maturation of rat kidney mitochondria. de réir 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 de réir 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). de réir 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. de réir 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 de réir 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 de réir 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. de réir 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. de réir 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. de réir 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. de réir 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. de réir 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 de réir 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. de réir 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 de réir 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 de réir 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... de réir 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 de réir 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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