Denis, Simone

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Ferdinandusse, S., Denis, S., Clayton, P. T., Graham, A., Rees, J. E., Allen, J. T., McLean, B. N., Brown, A. Y., Vreken, P., Waterham, H. R., et al. (2000) · Nature Genetics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 262

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R. (2007) · Human Mutation

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 156

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., et al. (2006) · The American Journal of Human Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 145

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 134

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 97

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., et al. (2010) · Journal of Medical Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 94

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice

Ferdinandusse, S., Denis, S., Overmars, H., Van Eeckhoudt, L., Van Veldhoven, P. P., Duran, M., Wanders, R. J. A., & Baes, M. (2005) · Journal of Biological Chemistry

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 47