Canlyniadau Chwilio - Rotig, A

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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 gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn