Nassogne, Marie-Cécile

A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria

Rzem, R., Veiga-da-Cunha, M., Noël, G., Goffette, S., Nassogne, M.-C., Tabarki, B., Schöller, C., Marquardt, T., Vikkula, M., & Van Schaftingen, E. (2004) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 195

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M.-C., Palmer, E. E., Deprez, M., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 56