Berkel, Simone

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Berkel, S., Marshall, C. R., Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 563

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Berkel, S., Tang, W., Treviño, M., Vogt, M., Obenhaus, H. A., Gass, P., Scherer, S. W., Sprengel, R., Schratt, G., & Rappold, G. A. (2012) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 162

Sex Hormones Regulate SHANK Expression

Berkel, S., Eltokhi, A., Fröhlich, H., Porras-Gonzalez, D., Rafiullah, R., Sprengel, R., & Rappold, G. A. (2018) · Frontiers in Molecular Neuroscience

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 41

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

Eltokhi, A., Gonzalez-Lozano, M. A., Oettl, L.-L., Rozov, A., Pitzer, C., Röth, R., Berkel, S., Hüser, M., Harten, A., Kelsch, W., et al. (2021) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 38