Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation

Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism

(2015) Peter E. Davis et al.   Neurotherapeutics

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

(2013) Darcy A. Krueger et al.   ANNALS OF NEUROLOGY

Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity

(2013) Jurriaan M Peters et al.   BMC Medicine

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children

(2013) G.-X. Wang et al.   GENETICS AND MOLECULAR RESEARCH

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Darcy A. Krueger et al.   PEDIATRIC NEUROLOGY

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

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

Mammalian Target of Rapamycin (mTOR) Inhibition: Potential for Antiseizure, Antiepileptogenic, and Epileptostatic Therapy

(2012) Robin C. C. Ryther et al.   Current Neurology and Neuroscience Reports

Functional Assessment ofTSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

(2012) Marianne Hoogeveen-Westerveld et al.   HUMAN MUTATION

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

(2012) Peter T. Tsai et al.   NATURE

From genes to cognition in tuberous sclerosis: Implications for mTOR inhibitor-based treatment approaches

(2012) Dan Ehninger   NEUROPHARMACOLOGY

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

TGF- /SMAD/GLI2 Signaling Axis in Cancer Progression and Metastasis

(2011) D. Javelaud et al.   CANCER RESEARCH

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

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

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

Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

(2011) D. N. Franz et al.   NEUROPEDIATRICS

AUTISTIC BEHAVIOUR AND ATTENTION DEFICITS IN TUBEROUS SCLEROSIS: A POPULATION-BASED STUDY

(2010) J. Carina Gillberg et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex

(2010) Petrus J. Vries   Neurotherapeutics

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

(2010) Dan Ehninger et al.   TRENDS IN MOLECULAR MEDICINE

The tuberous sclerosis complex

(2009) Ksenia A. Orlova et al.   Annals of the New York Academy of Sciences

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis

(2008) G.F.L. Hofbauer et al.   BRITISH JOURNAL OF DERMATOLOGY

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

(2008) L. Meikle et al.   JOURNAL OF NEUROSCIENCE

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

Characterization of Autism in Young Children With Tuberous Sclerosis Complex

(2007) Shafali S. Jeste et al.   JOURNAL OF CHILD NEUROLOGY