Rudolf, Gabrielle

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Moss, D. J. H., Pardiñas, A. F., Langbehn, D., Lo, K., Leavitt, B. R., Roos, R., Durr, A., Mead, S., Coleman, A., Santos, R. D., et al. (2017) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenetic Associations and Epidemiology

Cited by 312

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Ishida, S., Picard, F., Rudolf, G., Noé, E., Achaz, G., Thomas, P., Genton, P., Mundwiller, E., Wolff, M., Marescaux, C., et al. (2013) · Nature Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 269

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185