Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.

по Lauber, J, Marsac, C, Kadenbach, B, Seibel, P
Опубликовано 1991

Mitochondria are selective targets for the protective effects of heat shock against oxidative injury.

по Polla, B S, Kantengwa, S, François, D, Salvioli, S, Franceschi, C, Marsac, C, Cossarizza, A
Опубликовано 1996

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.

по Degoul, F, Nelson, I, Amselem, S, Romero, N, Obermaier-Kusser, B, Ponsot, G, Marsac, C, Lestienne, P
Опубликовано 1991

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and N...

по Robinson, B H, Oei, J, Saudubray, J M, Marsac, C, Bartlett, K, Quan, F, Gravel, R
Опубликовано 1987

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.

по Aral, B, Benelli, C, Ait-Ghezala, G, Amessou, M, Fouque, F, Maunoury, C, Créau, N, Kamoun, P, Marsac, C
Опубликовано 1997

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

по Benit, P, Slama, A, Cartault, F, Giurgea, I, Chretien, D, Lebon, S, Marsac, C, Munnich, A, Rotig, A, Rustin, P
Опубликовано 2004

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

по Nelson, I, Degoul, F, Obermaier-Kusser, B, Romero, N, Borrone, C, Marsac, C, Vayssiere, J L, Gerbitz, K, Fardeau, M, Ponsot, G
Опубликовано 1989

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

по Marchant, D, Yu, K, Bigot, K, Roche, O, Germain, A, Bonneau, D, Drouin‐Garraud, V, Schorderet, D F, Munier, F, Schmidt, D, Neindre, P Le, Marsac, C, Menasche, M, Dufier, J L, Fischmeister, R, Hartzell, C, Abitbol, M
Опубликовано 2007