Ohcanbohtosat - Rotig, A

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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

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

Viečča ollesdeavstta Viečča ollesdeavstta

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Dahkki 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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

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 Dahkki 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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke‐like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal deve... Dahkki 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

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders Dahkki 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.

Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta