Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.

Por Chretien, D, Gallego, J, Barrientos, A, Casademont, J, Cardellach, F, Munnich, A, Rötig, A, Rustin, P
Publicado em 1998

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Por Bourgeron, T, Chretien, D, Poggi-Bach, J, Doonan, S, Rabier, D, Letouzé, P, Munnich, A, Rötig, A, Landrieu, P, Rustin, P
Publicado em 1994

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

Por Benit, P, Slama, A, Cartault, F, Giurgea, I, Chretien, D, Lebon, S, Marsac, C, Munnich, A, Rotig, A, Rustin, P
Publicado em 2004

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

Por von Kleist-Retzow, J C, Cormier-Daire, V, de Lonlay, P, Parfait, B, Chretien, D, Rustin, P, Feingold, J, Rötig, A, Munnich, A
Publicado em 1998

Mutations in SURF1 are not specifically associated with Leigh syndrome

Por VON KLEIST-RETZOW, J.-C., YAO, J., TAANMAN, J., CHANTREL, K., CHRETIEN, D., CORMIER-DAIRE, V., ROTIG, A., MUNNICH, A., RUSTIN, P., SHOUBRIDGE, E.
Publicado em 2001

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

Por 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
Publicado em 2003

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

Por 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
Publicado em 2003

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Por Habarou, F., Brassier, A., Rio, M., Chrétien, D., Monnot, S., Barbier, V., Barouki, R., Bonnefont, J.P., Boddaert, N., Chadefaux-Vekemans, B., Le Moyec, L., Bastin, J., Ottolenghi, C., de Lonlay, P.
Publicado no Mol Genet Metab Rep (2014)

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

Por 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.
Publicado em 2013