Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

(2015) Paolo Curatolo et al.   LANCET NEUROLOGY

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations

(2013) Wei Sun et al.   Nature Communications

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

(2012) Marianne Hoogeveen-Westerveld et al.   BMC BIOCHEMISTRY

TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1

(2012) Christian C. Dibble et al.   MOLECULAR CELL

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

Conservation of Structural and Functional Elements of TSC1 and TSC2: A Bioinformatic Comparison Across Animal Models

(2011) Jaco Serfontein et al.   BEHAVIOR GENETICS

Sirolimus Therapy for Angiomyolipoma in Tuberous Sclerosis and Sporadic Lymphangioleiomyomatosis: A Phase 2 Trial

(2011) D. M. Davies et al.   CLINICAL CANCER RESEARCH

Genotype and cognitive phenotype of patients with tuberous sclerosis complex

(2011) Agnies M van Eeghen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Neuropsychological Attention Skills and Related Behaviours in Adults with Tuberous Sclerosis Complex

(2010) Kevin M. Tierney et al.   BEHAVIOR GENETICS

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

Heritability in the Efficiency of Nonsense-Mediated mRNA Decay in Humans

(2010) Cathal Seoighe et al.   PLoS One

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

Pam (Protein associated with Myc) functions as an E3 Ubiquitin ligase and regulates TSC/mTOR signaling

(2008) Sangyeul Han et al.   CELLULAR SIGNALLING

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE