Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

(2011) J. R. Yates et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

(2011) Peter Tsai et al.   CURRENT OPINION IN NEUROLOGY

Genotype and cognitive phenotype of patients with tuberous sclerosis complex

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

Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex

(2011) S. Anderl et al.   HUMAN MOLECULAR GENETICS

mTOR links oncogenic signaling to tumor cell metabolism

(2011) Jessica L. Yecies et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

(2011) A. L. Numis et al.   NEUROLOGY

Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis

(2011) Francis X. McCormack et al.   NEW ENGLAND JOURNAL OF MEDICINE

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

(2011) J. Goto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphoproteomic Analysis Identifies Grb10 as an mTORC1 Substrate That Negatively Regulates Insulin Signaling

(2011) Y. Yu et al.   SCIENCE

The mTOR-Regulated Phosphoproteome Reveals a Mechanism of mTORC1-Mediated Inhibition of Growth Factor Signaling

(2011) P. P. Hsu et al.   SCIENCE

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

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

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

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

(2010) L.-H. Zeng et al.   HUMAN MOLECULAR GENETICS

mTOR: from growth signal integration to cancer, diabetes and ageing

(2010) Roberto Zoncu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

(2010) Darcy A. Krueger et al.   NEW ENGLAND JOURNAL OF MEDICINE

Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism

(2010) D. M. Young et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The natural history of epilepsy in tuberous sclerosis complex

(2009) Catherine J. Chu-Shore et al.   EPILEPSIA

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

(2009) S. W. Way et al.   HUMAN MOLECULAR GENETICS

A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles

(2009) Kristen Pollizzi et al.   HUMAN MOLECULAR GENETICS

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

(2008) Mark Nellist et al.   BMC Medical Genetics

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

(2008) John J. Bissler et al.   NEW ENGLAND JOURNAL OF MEDICINE