mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders

mTOR inhibitor reverses autistic-like social deficit behaviours in adult rats with both Tsc2 haploinsufficiency and developmental status epilepticus

(2016) Miriam Schneider et al.   EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE

Safety of Everolimus in Patients Younger than 3 Years of Age: Results from EXIST-1, a Randomized, Controlled Clinical Trial

(2016) Sergiusz Jóźwiak et al.   JOURNAL OF PEDIATRICS

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

Sirolimus for epilepsy in children with tuberous sclerosis complex

(2016) Iris E. Overwater et al.   NEUROLOGY

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

(2016) Su-Kyeong Hwang et al.   Molecular Brain

Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study

(2016) David N. Franz et al.   PLoS One

Everolimus for subependymal giant cell astrocytoma: 5-year final analysis

(2015) David N. Franz et al.   ANNALS OF NEUROLOGY

Everolimus for the treatment of lymphangioleiomyomatosis: a phase II study

(2015) Hilary J. Goldberg et al.   EUROPEAN RESPIRATORY JOURNAL

Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial

(2015) John J. Bissler et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex

(2015) Jeffrey P. MacKeigan et al.   NEURO-ONCOLOGY

Increased Mammalian Target of Rapamycin Signaling Contributes to the Accumulation of Protein Oxidative Damage in a Mouse Model of Down's Syndrome

(2015) Antonella Tramutola et al.   Neurodegenerative Diseases

Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy

(2015) Paolo Curatolo   PEDIATRIC NEUROLOGY

Sustained Effects of Sirolimus on Lung Function and Cystic Lung Lesions in Lymphangioleiomyomatosis

(2014) Jianhua Yao et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome brain

(2014) Marzia Perluigi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

(2014) Michael Cardamone et al.   JOURNAL OF PEDIATRICS

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 effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1

(2014) J. C. Kingswood et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma

(2014) Marco Giovannini et al.   NEURO-ONCOLOGY

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study

(2014) B. Weiss et al.   NEURO-ONCOLOGY

Sirolimus Improves Pain in NF1 Patients With Severe Plexiform Neurofibromas

(2014) C. Hua et al.   PEDIATRICS

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

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

Clinical course and seizure outcome of idiopathic childhood epilepsy: determinants of early and long-term prognosis

(2013) Pinelopi Dragoumi et al.   BMC Neurology

Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86

(2013) Mehmet Canpolat et al.   CHILDS NERVOUS SYSTEM

Management of CNS-related Disease Manifestations in Patients With Tuberous Sclerosis Complex

(2013) Darcy A. Krueger   Current Treatment Options in 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

mTOR kinase structure, mechanism and regulation

(2013) Haijuan Yang et al.   NATURE

mTOR complexes in neurodevelopmental and neuropsychiatric disorders

(2013) Mauro Costa-Mattioli et al.   NATURE NEUROSCIENCE

Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas

(2013) Matthias A. Karajannis et al.   NEURO-ONCOLOGY

Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma

(2013) D. A. Krueger et al.   NEUROLOGY

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study

(2013) Brian Weiss et al.   PEDIATRIC BLOOD & CANCER

Long-term side effects of treatment with mTOR inhibitors in children after renal transplantation

(2013) Birgitta Kranz et al.   PEDIATRIC NEPHROLOGY

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

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

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

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

Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial

(2012) Cristina Cabrera-López et al.   Orphanet Journal of Rare Diseases

Deregulated mTOR-mediated translation in intellectual disability

(2012) José Antonio Troca-Marín et al.   PROGRESS IN NEUROBIOLOGY

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

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

Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis

(2011) David Neal Franz   Expert Review of Anticancer Therapy

An Increase in Basal BDNF Provokes Hyperactivation of the Akt-Mammalian Target of Rapamycin Pathway and Deregulation of Local Dendritic Translation in a Mouse Model of Down's Syndrome

(2011) J. A. Troca-Marin et al.   JOURNAL OF NEUROSCIENCE

Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis

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

Preclincial testing of Sorafenib and RAD001 in the Nfflox/flox;DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging

(2011) Jianqiang Wu et al.   PEDIATRIC BLOOD & CANCER

Multicenter Phase 2 Trial of Sirolimus for Tuberous Sclerosis: Kidney Angiomyolipomas and Other Tumors Regress and VEGF- D Levels Decrease

(2011) Sandra L. Dabora et al.   PLoS One

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

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

Perinatal (Fetal and Neonatal) Tuberous Sclerosis: A Review

(2009) Hart Isaacs   AMERICAN JOURNAL OF PERINATOLOGY

The tuberous sclerosis complex

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

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

Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex

(2009) Jennifer Muncy et al.   JOURNAL OF CHILD NEUROLOGY

NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth

(2009) M. F. James et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

Lymphangioleiomyomatosis

(2008) Francis X. McCormack   CHEST

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

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

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

The pathogenesis and imaging of the tuberous sclerosis complex

(2008) Henry J. Baskin   PEDIATRIC RADIOLOGY