Rezultati - Rotig, A

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst

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.

Polni tekst Polni tekst Polni tekst

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.

Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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.

Polni tekst Polni tekst Polni tekst