mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

(2016) Jacqueline A French et al.   LANCET

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

(2016) Shafali S. Jeste et al.   NEUROLOGY

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Intermittent dosing of rapamycin maintains antiepileptogenic effects in a mouse model of tuberous sclerosis complex

(2015) Nicholas Rensing et al.   EPILEPSIA

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

(2015) Christina Gross et al.   Neurotherapeutics

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

(2015) Aglaia Vignoli et al.   Orphanet Journal of Rare Diseases

Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex

(2014) Véronique Ruppe et al.   EPILEPSIA

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study

(2014) David Neal Franz et al.   LANCET ONCOLOGY

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

Atypical focal cortical dysplasia in a patient with Cowden syndrome

(2014) KM Cheung et al.   HONG KONG MEDICAL JOURNAL

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

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

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

(2013) John J Bissler et al.   LANCET

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012

(2013) Jonathan Roth et al.   PEDIATRIC NEUROLOGY

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

Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex

(2013) Mary Kay Koenig et al.   Drugs in research & development

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

(2012) C. A. Hoeffer et al.   GENES BRAIN AND BEHAVIOR

Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex

(2012) Tracy S. Ma et al.   Journal of Neurosurgery-Pediatrics

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

(2012) David Neal Franz et al.   LANCET

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

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

(2012) Atsushi Sato et al.   Nature Communications

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) A. L. Numis et al.   NEUROLOGY

Topical Rapamycin

(2010) Anna K. Haemel et al.   ARCHIVES OF DERMATOLOGY

STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

(2010) Ksenia A. Orlova et al.   JOURNAL OF CLINICAL INVESTIGATION

Dysregulation of mTOR Signaling in Fragile X Syndrome

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

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

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

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

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

Alzheimer's Disease

(2010) Henry W. Querfurth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

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

Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation

(2009) R. Nick Hernandez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The natural history of epilepsy in tuberous sclerosis complex

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

Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature

(2009) M. E. A. P. M. Adriaensen et al.   EUROPEAN JOURNAL OF NEUROLOGY

mTOR signaling: At the crossroads of plasticity, memory and disease

(2009) Charles A. Hoeffer et al.   TRENDS IN NEUROSCIENCES

Origins of Epilepsy in Fragile X Syndrome

(2009) Paul J. Hagerman et al.   Epilepsy Currents

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

(2008) Ling-Hui Zeng et al.   ANNALS OF NEUROLOGY

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

Regression of Subependymal Giant Cell Astrocytoma With Rapamycin in Tuberous Sclerosis Complex

(2008) Mary Kay Koenig et al.   JOURNAL OF CHILD NEUROLOGY

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

Novel targets for Huntington's disease in an mTOR-independent autophagy pathway

(2008) Andrea Williams et al.   Nature Chemical Biology

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