Tuberous sclerosis complex

Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC

(2016) Paolo Curatolo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD)

(2016) Christopher Kingswood et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Long-term Follow-up Assessing Renal Angiomyolipoma Treatment Patterns, Morbidity, and Mortality: An Observational Study in Tuberous Sclerosis Complex Patients in the Netherlands

(2015) Marinus J.C. Eijkemans et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

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

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

Complications of mammalian target of rapamycin inhibitor anticancer treatment among patients with tuberous sclerosis complex are common and occasionally life-threatening

(2015) Joanna Trelinska et al.   ANTI-CANCER DRUGS

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

(2015) Mark Nellist et al.   BMC Medical Genetics

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

(2015) Nicholas Rensing et al.   EPILEPSIA

Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs

(2015) Iris E. Overwater et al.   EPILEPSIA

Everolimus for the treatment of lymphangioleiomyomatosis: a phase II study

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

Erk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma

(2015) Monika Siedlecka et al.   FOLIA NEUROPATHOLOGICA

mTOR: a pharmacologic target for autophagy regulation

(2015) Young Chul Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2015) Ho Tin Wong et al.   JOURNAL OF MEDICAL GENETICS

Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus

(2015) Neera Nathan et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

(2015) Paolo Curatolo et al.   LANCET NEUROLOGY

Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

(2015) Felipe Mussi von Ranke et al.   LUNG

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

Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

(2015) Petrus J. de Vries et al.   PEDIATRIC NEUROLOGY

Role of mTOR inhibitors in epilepsy treatment

(2015) Krzysztof Sadowski et al.   Pharmacological Reports

Wild Type Mesenchymal Cells Contribute to the Lung Pathology of Lymphangioleiomyomatosis

(2015) Debbie Clements et al.   PLoS One

Regulation of mTORC1 by PI3K signaling

(2015) Christian C. Dibble et al.   TRENDS IN CELL BIOLOGY

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

(2015) Magdalena E. Tyburczy et al.   PLoS Genetics

Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis

(2015) Angelo M. Taveira-DaSilva et al.   Clinical Epidemiology

Renal Cell Carcinoma in Tuberous Sclerosis Complex

(2014) Ping Yang et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Tuberous Sclerosis–associated Renal Cell Carcinoma

(2014) Juan Guo et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Rapamycin: One Drug, Many Effects

(2014) Jing Li et al.   Cell Metabolism

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex

(2014) Katarzyna Kotulska et al.   CHILDS NERVOUS SYSTEM

Epilepsy in newborns with tuberous sclerosis complex

(2014) Katarzyna Kotulska et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients – A prospective study of 5 patients

(2014) D. Domańska-Pakieła et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

318 Real-world assessment of renal involvement in tuberous sclerosis complex (TSC) patients in the United Kingdom (UK)

(2014) J.C. Kingswood et al.   EUROPEAN UROLOGY SUPPLEMENTS

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

(2014) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells

(2014) Chenggang Li et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

Therapeutic Targeting of Cellular Metabolism in Cells with Hyperactive mTORC1: A Paradigm Shift

(2014) Doug Medvetz et al.   MOLECULAR CANCER RESEARCH

High-Throughput Drug Screen Identifies Chelerythrine as a Selective Inducer of Death in a TSC2-null Setting

(2014) Doug Medvetz et al.   MOLECULAR CANCER RESEARCH

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

Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

(2014) Eleonora Aronica et al.   Neurotherapeutics

Molecular Basis of Giant Cells in Tuberous Sclerosis Complex

(2014) David J. Kwiatkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

(2014) John C Kingswood et al.   Orphanet Journal of Rare Diseases

Tuberous sclerosis complex: the past and the future

(2014) Liesbeth De Waele et al.   PEDIATRIC NEPHROLOGY

Prevention of Epileptogenesis—A New Goal for Epilepsy Therapy

(2014) Sergiusz Jóźwiak et al.   PEDIATRIC NEUROLOGY

Strategies for the management of adverse events associated with mTOR inhibitors

(2014) Bruce Kaplan et al.   Transplantation Reviews

Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

(2014) Joyce M. C. Teng et al.   JAMA Dermatology

Exonic Mutations ofTSC2/TSC1Are Common but Not Seen in All Sporadic Pulmonary Lymphangioleiomyomatosis

(2013) Kameswara Rao Badri et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Faslodex Inhibits Estradiol-Induced Extracellular Matrix Dynamics and Lung Metastasis in a Model of Lymphangioleiomyomatosis

(2013) Chenggang Li et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

First left-right comparative study of topical rapamycin vs. vehicle for facial angiofibromas in patients with tuberous sclerosis complex

(2013) M. Tanaka et al.   BRITISH JOURNAL OF DERMATOLOGY

Lymphangioleiomyomatosis Screening in Women With Tuberous Sclerosis

(2013) Corey J. Cudzilo et al.   CHEST

Sirolimus Decreases Circulating Lymphangioleiomyomatosis Cells in Patients With Lymphangioleiomyomatosis

(2013) Xiong Cai et al.   CHEST

Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations

(2013) Sergiusz Jóźwiak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

(2013) Katarzyna Kotulska et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

(2013) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

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

Uterine-Specific Loss of Tsc2 Leads to Myometrial Tumors in Both the Uterus and Lungs

(2013) Hen Prizant et al.   MOLECULAR ENDOCRINOLOGY

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

Mechanism-Based Treatment in Tuberous Sclerosis Complex

(2013) Kristina Jülich 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

Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial

(2013) Lisa R Young et al.   Lancet Respiratory Medicine

Multi-modality imaging findings of splenic hamartoma: a report of nine cases and review of the literature

(2012) Jian-hua Wang et al.   ABDOMINAL IMAGING

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

(2012) Avanita S. Prabowo et al.   BRAIN PATHOLOGY

Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex

(2012) Victoria Tsai et al.   CEREBRAL CORTEX

Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

(2012) Agnies M. van Eeghen et al.   EPILEPSY RESEARCH

Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations

(2012) Paolo Curatolo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex

(2012) Sharon W. Way et al.   HUMAN MOLECULAR GENETICS

Lymphangioleiomyomatosis — a wolf in sheep’s clothing

(2012) Elizabeth P. Henske et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Everolimus alters white matter diffusion in tuberous sclerosis complex

(2012) J.-M. Tillema et al.   NEUROLOGY

Lymphangioleiomyomatosis: New Concepts in Pathogenesis, Diagnosis, and Treatment

(2012) Riffat Meraj et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Wound Healing Complications and the Use of Mammalian Target of Rapamycin Inhibitors in Kidney Transplantation

(2012) Björn Nashan et al.   TRANSPLANTATION

Dramatic Improvement of Facial Angiofibromas in Tuberous Sclerosis With Topical Rapamycin: Optimizing a Treatment Protocol

(2011) Cynthia M. C. DeKlotz   ARCHIVES OF DERMATOLOGY

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

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

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex

(2011) AM Larson et al.   CLINICAL GENETICS

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

(2011) M Wentink et al.   CLINICAL GENETICS

Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex

(2011) M.E.A.P.M. Adriaensen et al.   CLINICAL RADIOLOGY

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

(2011) Lindsay Hallett et al.   CURRENT MEDICAL RESEARCH AND OPINION

Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis

(2011) Nicole A. Neuman et al.   EMBO Molecular Medicine

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

(2011) Magdalena Kaczorowska et al.   EPILEPSIA

Low glycemic index treatment for epilepsy in tuberous sclerosis complex

(2011) Anna M. Larson et al.   EPILEPSY RESEARCH

Genotype and cognitive phenotype of patients with tuberous sclerosis complex

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

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

(2011) Sergiusz Jóźwiak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex

(2011) Marta Perek-Polnik et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Differentiation between Birt–Hogg–Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

(2011) Kazunori Tobino et al.   EUROPEAN JOURNAL OF RADIOLOGY

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

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

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

(2011) Marianne Hoogeveen-Westerveld et al.   HUMAN MUTATION

Sustained clinical effectiveness and favorable safety profile of topical sirolimus for tuberous sclerosis - associated facial angiofibroma

(2011) R. Salido et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Patient stories about their dialysis experience biases others' choices regardless of doctor's advice: an experimental study

(2011) A. E. Winterbottom et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

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

Phenotypic Characterization of Disseminated Cells withTSC2Loss of Heterozygosity in Patients with Lymphangioleiomyomatosis

(2010) Xiong Cai et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Therapeutic mTOR Inhibition in Autosomal Dominant Polycystic Kidney Disease: What Is the Appropriate Serum Level?

(2010) G. Canaud et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Chronic Rapamycin Treatment Causes Glucose Intolerance and Hyperlipidemia by Upregulating Hepatic Gluconeogenesis and Impairing Lipid Deposition in Adipose Tissue

(2010) V. P. Houde et al.   DIABETES

Epilepsy surgery in tuberous sclerosis complex: Emphasis on surgical candidate and neuropsychology

(2010) Shuli Liang et al.   EPILEPSIA

European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis

(2010) S. R. Johnson et al.   EUROPEAN RESPIRATORY JOURNAL

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

Clinical Activity of mTOR Inhibition With Sirolimus in Malignant Perivascular Epithelioid Cell Tumors: Targeting the Pathogenic Activation of mTORC1 in Tumors

(2010) Andrew J. Wagner et al.   JOURNAL OF CLINICAL ONCOLOGY

The Natural History of Lymphangioleiomyomatosis: Markers of Severity, Rate of Progression and Prognosis

(2010) Angelo M. Taveira–DaSilva et al.   Lymphatic Research and Biology

Loss of heterozygosity on tuberous sclerosis complex genes in multifocal micronodular pneumocyte hyperplasia

(2010) Takuo Hayashi et al.   MODERN PATHOLOGY

Tuberous Sclerosis Complex Renal Disease

(2010) Bradley P. Dixon et al.   NEPHRON EXPERIMENTAL NEPHROLOGY

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

Sirolimus and Kidney Growth in Autosomal Dominant Polycystic Kidney Disease

(2010) Andreas L. Serra et al.   NEW ENGLAND JOURNAL OF MEDICINE

Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease

(2010) Gerd Walz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease

(2010) Brian J. Siroky et al.   PEDIATRIC NEPHROLOGY

The natural history of epilepsy in tuberous sclerosis complex

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

Early control of seizures improves long-term outcome in children with tuberous sclerosis complex

(2009) Roberta Bombardieri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1

(2009) Jing Zhou et al.   HUMAN MOLECULAR GENETICS

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

(2009) D A Muzykewicz et al.   JOURNAL OF MEDICAL GENETICS

Renal involvement in tuberous sclerosis complex and von Hippel–Lindau disease: shared disease mechanisms?

(2009) Brian J Siroky et al.   Nature Reviews Nephrology

Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells

(2009) Jane J. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sirolimus May Reduce Fertility in Male Renal Transplant Recipients

(2008) J. Zuber et al.   AMERICAN JOURNAL OF TRANSPLANTATION

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

Behavior problems in children with tuberous sclerosis complex and parental stress

(2008) Claudine M.C. Kopp et al.   EPILEPSY & BEHAVIOR

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

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

(2008) Mark B. Consugar et al.   KIDNEY INTERNATIONAL

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

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