Genotype and cognitive phenotype of patients with tuberous sclerosis complex

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

(2011) Marianne Hoogeveen-Westerveld et al.   HUMAN MUTATION

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

(2011) A. L. Numis et al.   NEUROLOGY

Cortical Tubers, Cognition, and Epilepsy in Tuberous Sclerosis

(2011) Janani Kassiri et al.   PEDIATRIC NEUROLOGY

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

(2010) Marianne Hoogeveen-Westerveld et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events

(2010) Wei Qin et al.   BRAIN PATHOLOGY

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex

(2009) Melika Mozaffari et al.   BMC Medical Genetics

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

(2008) Mark Nellist et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

S6K1 Phosphorylates and Regulates Fragile X Mental Retardation Protein (FMRP) with the Neuronal Protein Synthesis-dependent Mammalian Target of Rapamycin (mTOR) Signaling Cascade

(2008) Usha Narayanan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY