Disease: Bourneville syndrome
- <em>tRF-27</em> competitively Binds to G3BPs and Activates MTORC1 to Enhance HER2 Positive Breast Cancer Trastuzumab Tolerance
- <em>TSC2</em> loss in neural progenitor cells suppresses translation of ASD/NDD-associated transcripts in an mTORC1- and MNK1/2-reversible fashion
- 2024 Canadian Urological Association endorsement of an expert report: Kidney involvement in tuberous sclerosis complex
- A 20-year-old woman with chronic cough and dyspnea
- A 23-year bibliometric analysis of the development of global research on hereditary renal carcinoma
- A case of tuberous sclerosis complex revealed by epilepsy
- A Rare Case of Renal Angiomyolipoma and Polycystic Kidney Disease in a Patient with Tuberous Sclerosis
- A Triple Laser Combination Treatment for Facial Angiofibromata Management in Tuberous Sclerosis and Literature Review
- Aberrant TSC-Rheb axis in Oxytocin receptor+ cells mediate stress-induced anxiety
- Association of earlier surgery with improved postoperative language development in children with tuberous sclerosis complex
- Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
- Beyond Benign: A Case of Subependymal Giant Cell Astrocytomas Provoking Hydrocephalus in Tuberous Sclerosis Complex
- Case report: Liver PEComa after kidney transplantation in recipient with tuberous sclerosis complex
- Case Report: Patent ductus arteriosus with tuberous sclerosis complex
- Characteristics and Outcomes of Fetal Cardiac Rhabdomyoma With or Without mTOR Inhibitors, a Systematic Review and Meta-Analysis
- Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients
- Clinical and bioinformatics analysis of the relationship between LAMA3 DNA methylation expression and platinum resistance and prognosis in epithelial ovarian cancer
- Comparison of RNA-Sequencing Methods for Degraded RNA
- Complex Factors in Hydrocephalus Development in Tuberous Sclerosis Complex: A Case Report of Subependymal Giant Cell Astrocytoma
- Consensus panel recommendations for the optimization of EPIDIOLEX treatment for seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex
- Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
- Cytoplasmic vacuolization and ectopic formation of perineuronal nets are characteristic pathologies of cytomegalic neurons in tuberous sclerosis
- Delayed diagnosis of tuberous sclerosis complex: unveiling low-level TSC2 mosaicism using targeted next-generation sequencing
- Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
- Diffuse Cystic Lung Disease: A Clinical Guide to Recognition and Management
- Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
- Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial
- Early Subclinical Status Epilepticus May Contribute to Developmental Delays in Infants With Tuberous Sclerosis Complex
- Effectiveness and safety of liposomal rapamycin for the treatment of facial angiofibromas in tuberous sclerosis
- Effectiveness of Highly Purified Cannabidiol in Refractory and Super-Refractory Status Epilepticus: A Case Series
- Endovascular Treatment of a Bilateral, Ruptured Angiomyolipoma in a Patient With Tuberous Sclerosis Complex
- Eosinophilic Solid and Cystic Renal Cell Carcinoma-A Systematic Review and Meta-Analysis
- Epidemiology, Risk Factors, and Clinical Outcomes of AKI in Pediatric Hematopoietic Stem Cell Transplant Patients
- Evaluation of diagnostic accuracy of dermoscopy in some common hypopigmented skin diseases
- Exosomes originating from neural stem cells undergoing necroptosis participate in cellular communication by inducing TSC2 upregulation of recipient cells following spinal cord injury
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
- Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians
- Exudative Retinal Astrocytic Hamartomas and Papilledema in a Patient with Tuberous Sclerosis Complex and Subependymal Giant Cell Astrocytoma
- Fibrofatty involution of rhabdomyomas: a longitudinal series of cardiac MRI studies in a patient with possible tuberous sclerosis complex
- Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
- Giant Genital Mass: Unveiling a Unique Case of Folliculocystic and Collagen Hamartoma
- Giant renal angiomyolipomas with spontaneous hemorrhage associated with tuberous sclerosis complex during pregnancy
- Have epilepsy outcomes changed for children with tuberous sclerosis complex in Queensland, Australia?
- Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors
- High-Resolution Proteomics Unravel a Native Functional Complex of Cav1.3, SK3, and Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels in Midbrain Dopaminergic Neurons
- Human TSC2 Mutant Cells Exhibit Aberrations in Early Neurodevelopment Accompanied by Changes in the DNA Methylome
- Hyperactive mTORC1 disrupts habenula function and light preference in zebrafish model of Tuberous sclerosis complex
- IL-37d suppresses Rheb-mTORC1 axis independently of TCS2 to alleviate alcoholic liver disease
- Impact of seizure onset zone and intracranial electroencephalography ictal characteristics on epilepsy surgery outcomes in tuberous sclerosis complex
- Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex
- Increased susceptibility to kainate-induced seizures in a mouse model of tuberous sclerosis complex: Importance of sex and circadian cycle
- Investigating the Prevalence, Gender Predilection, and Inheritance Patterns of Genodermatoses: A Tertiary Hospital Study
- Long-term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3-year results from the cannabidiol expanded access program
- Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis
- Loss of Tuberous Sclerosis Complex 2 confers inflammation via dysregulation of Nuclear factor kappa-light-chain-enhancer of activated B cells
- Loss of tumor suppressors promotes inflammatory tumor microenvironment and enhances LAG3+T cell mediated immune suppression
- Measures of youth e-cigarette use: strengths, weaknesses and recommendations
- miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1
- MR-guided laser interstitial thermal therapy in the treatment of brain tumors and epilepsy
- mTOR aggravated CD4<sup>+</sup> T cell pyroptosis by regulating the PPARĪ³-Nrf2 pathway in sepsis
- mTOR Deletion Alleviates CD4+ T-Cell Dysfunction in Sepsis through Reducing CTLA4 Accumulation Mediated by Rescuing Autophagy
- Multimodal Analysis of the Retinal Manifestations of Tuberous Sclerosis Complex: A Case Series
- Multimodal framework to resolve variants of uncertain significance in <em>TSC2</em>
- Multiparameter quantitative analyses of diagnostic cells in brain tissues from tuberous sclerosis complex
- Neonatal Cardiac Rhabdomyoma: A Single-Center Experience
- Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil
- Novel developments in the study of estrogen in the pathogenesis and therapeutic intervention of lymphangioleiomyomatosis
- Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex
- Off-label use of cannabidiol in genetic epileptic and developmental encephalopathies: A case report
- Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy
- Pharmacokinetic variability of everolimus and impact of concomitant antiseizure medications in patients with tuberous sclerosis complex: A retrospective study of therapeutic drug monitoring data in Denmark and Norway
- PMEL is a predictive biomarker for mTORC1 inhibitor treatment of renal angiomyolipoma in tuberous sclerosis complex patients
- Portuguese Pancreatic Club Perspectives on Pancreatic Neuroendocrine Neoplasms: Diagnosis and Staging, Associated Genetic Syndromes and Particularities of Their Clinical Approach
- Progress report on new medications for seizures and epilepsy: A summary of the 17th Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVII). I. Drugs in preclinical and early clinical development
- Radiotherapy for subependymal giant cell astrocytoma: time to challenge a historical ban? A case report and review of the literature
- Resting state EEG in young children with Tuberous Sclerosis Complex
- Sclerotic bone lesions: Think about tuberous sclerosis too
- Screening for biomarkers of tuberous sclerosis complex-associated epilepsy: a bioinformatics analysis
- Seizure-Related Falls and Near Falls in LGI1-IgG Autoimmune Encephalitis
- Spontaneous Hydropneumothorax After Pleurodesis in a Patient With Pulmonary Lymphangioleiomyomatosis With Associated Endometrial Cancer
- Subependymal Giant Cell Astrocytomas Without Tuberous Sclerosis: A Case Report on a Rare Medical Condition
- Subpial resection of epileptogenic tubers: operative nuances and lessons learned
- Successful use of Fenfluramine in super-refractory status epilepticus in a patient with tuberous sclerosis complex and Lennox-Gastaut syndrome
- TFE3-rearranged nonmelanotic renal PEComa: a case series expanding their phenotypic and fusion landscape
- The emotional burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy: A qualitative study in Japan
- The microbiota-dependent tryptophan metabolite alleviates high-fat diet-induced insulin resistance through the hepatic AhR/TSC2/mTORC1 axis
- The role of the TSC Alliance in advancing therapy development: a patient organization perspective
- The Spectrum of "TFEopathies" - Flipping the mTOR Switch in Renal Tumorigenesis
- Topical sirolimus in dermatology: a systematic review
- Transplacental therapy with sirolimus for non-tuberous sclerosis rhabdomyoma in fetus
- Treatment of Infantile Hemangiomas in Concomitant Tuberous Sclerosis Complex Should Prompt Evaluation for Cardiac Rhabdomyomas Prior to Initiation of Propranolol
- tRNA m<sup>1</sup>A modification regulate HSC maintenance and self-renewal via mTORC1 signaling
- Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex
- Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report
- Unveiling Tuberous Sclerosis in a Diagnosed Patient With Systemic Lupus Erythematosus: A Rare Coincidence
- Uterine perivascular epithelioid cell tumors (PEComa) and the accuracy of proposed classification systems in predicting the malignant versus non-malignant behavior
- Vitamin D in tuberous sclerosis complex-associated tumors
- Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland