Disease: Tuberous sclerosis
- A 24-year-Old woman with recurrent pneumothoraces
- A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts
- A Cost-Utility Analysis of Add-On Cannabidiol Versus Usual Care Alone for the Treatment of Seizures Associated with Tuberous Sclerosis Complex in England and Wales
- A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis
- A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)
- A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway
- A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan
- A real-world disproportionality analysis of Everolimus: data mining of the public version of FDA adverse event reporting system
- A Woman with Bilateral Pheochromocytoma and Tuberous Sclerosis Complex
- Advances and Challenges in Modeling Cannabidiol Pharmacokinetics and Hepatotoxicity
- Altered expression of the Plexin-B2 system in tuberous sclerosis complex and focal cortical dysplasia IIb lesions
- Amelioration of the brain structural connectivity is accompanied with changes of gut microbiota in a tuberous sclerosis complex mouse model
- An Adolescent with Tuberous Sclerosis and Hypocalcemia and a Renal Mass
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database
- An Uncommon Presentation of Renal Angiomyolipoma: A Case Report
- Angiomyolipoma With Epithelial Cysts: A Rare but Distinct Variant of Angiomyolipoma
- Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions
- Astroglial calcium signaling and homeostasis in tuberous sclerosis complex
- Autopsy findings of fatal retroperitoneal hemorrhage after traumatic rupture of bilateral renal angiomyolipoma
- Bleeding solitary SEGA in non-tuberous sclerosis complex adolescent: a case illustration and review of literature
- Cardiac Rhabdomyomas Presenting with Critical Cardiac Obstruction in Neonates and Infants: Treatment Strategies and Outcome, A Single-Center Experience
- Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic <em>TSC2</em> inactivation
- Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus
- Challenges of siblings with tuberous sclerosis showing various manifestations and severe complications
- Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
- Clinical, tomographic and functional comparison of sporadic and tuberous sclerosis complex-associated forms of lymphangioleiomyomatosis: a retrospective cohort study
- Clinicopathologic and Molecular Characterization of Xanthomatous Giant Cell Renal Cell Carcinomas: Further Support for a Close Morphologic Spectrum to Eosinophilic Solid and Cystic Renal Cell Carcinomas
- Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex
- Congenital single kidney in tuberous sclerosis complex (Bourneville disease)
- Contractile and Genetic Characterization of Cardiac Constructs Engineered from Human Induced Pluripotent Stem Cells: Modeling of Tuberous Sclerosis Complex and the Effects of Rapamycin
- Deep Learning Approaches for Imaging-Based Automated Segmentation of Tuberous Sclerosis Complex
- Defining the in vivo role of mTORC1 in thyrocytes by studying the TSC2 conditional knockout mouse model
- Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma
- Diagnostic work-up in malformations of cortical development
- Early Post-Natal Immune Activation Leads to Object Memory Deficits in Female <em>Tsc2</em><sup>+/-</sup> Mice: The Importance of Including Both Sexes in Neuroscience Research
- Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies
- Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis
- Electroretinogram as a Screening Tool to Assess Vigabatrin-Induced Retinal Toxicity in Children With Infantile Spasms
- Exploring an objective measure of overactivity in children with rare genetic syndromes
- Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos
- Extraneuraxial pancreatic hemangioblastoma in a patient with tuberous sclerosis
- GATOR1 Mutations Impair PI3 Kinase-Dependent Growth Factor Signaling Regulation of mTORC1
- Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing
- Genetic disorders and insulinoma/glucagonoma
- Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review
- GPNMB promotes tumor growth and is a biomarker for lymphangioleiomyomatosis
- Hepatic Angiomyolipoma With Predominant Lipomatous Component: A Rare Entity
- Hereditary Renal Cancer Syndromes
- Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
- Identification of a novel TSC1 gene variant in a patient with atypical vitiligo-like skin lesions: Unveiling the hidden tuberous sclerosis complex
- Identification of hub genes significantly linked to tuberous sclerosis related-epilepsy and lipid metabolism via bioinformatics analysis
- Inhibition of p70 Ribosomal S6 Kinase (S6K1) Reduces Cortical Blood Flow in a Rat Model of Autism-Tuberous Sclerosis
- Kidney collecting duct cell type composition is regulated by Notch signaling via modulation of mTORC1
- L1 Cell Adhesion Molecule (L1CAM) Expression and Molecular Alterations Distinguish Low-Grade Oncocytic Tumor From Eosinophilic Chromophobe Renal Cell Carcinoma
- Loss of macrophage TSC1 exacerbates sterile inflammatory liver injury through inhibiting the AKT/MST1/NRF2 signaling pathway
- Lymphangioleiomyomatosis as a potent lung cancer risk factor: Insights from a Japanese large cohort study
- Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
- Measurement of Developmental and Behavioral Concerns in Toddlers With Tuberous Sclerosis Complex
- Mechanistic Target of Rapamycin Kinase is a Common Convergent Pathway to Renal Neoplasia: A Contemporary Review
- MTOR modulation induces selective perturbations in histone methylation which influence the anti-proliferative effects of mTOR inhibitors
- Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry
- Multiple and hereditary renal tumors: a review for radiologists
- Neuropsychiatric comorbidities in tuberous sclerosis complex patients with epilepsy: results of the TAND checklist survey
- New Dermoscopic Findings in the Facial Angiofibromas of Tuberous Sclerosis Complex
- Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis
- Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis
- Osteocytes/Osteoblasts Produce SAA3 to Regulate Hepatic Metabolism of Cholesterol
- PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY
- Patients' and physicians' awareness of clinical symptoms and disease severity in tuberous sclerosis complex
- Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study
- Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases
- Prenatal diagnosis and clinical management of cardiac rhabdomyoma: a single-center study
- Prevention of epileptogenesis - are we there yet?
- Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex
- Rbpms2 promotes female fate upstream of the nutrient sensing Gator2 complex component, Mios
- Recurrent Tuberous Sclerosis Complex/Mammalian Target of Rapamycin Mutations Define Primary Renal Hemangioblastoma as a Unique Entity Distinct From Its Central Nervous System Counterpart
- Remedial Dosing Recommendations for Sirolimus Delayed or Missed Dosages Caused by Poor Medication Compliance in Pediatric Tuberous Sclerosis Complex Patients
- Research of the unrecognised functions of miR-375 in prostate cancer cells
- Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy
- Saccular abdominal aortic aneurysm in adolescence with tuberous sclerosis
- Segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion
- Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?
- The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and meta-analysis
- The Clinical and Paraclinical Manifestations of Tuberous Sclerosis in an Omani Female Patient
- The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC
- The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions
- The people behind the papers - Jiajia Ye and Qiang Sun
- The science of uncertainty guides fetal-neonatal neurology principles and practice: diagnostic-prognostic opportunities and challenges
- Therapeutic Strategies for Gliomas Associated With Cancer Predisposition Syndromes
- Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
- Tuberous Sclerosis Complex as a Social Determinant of Health, Alongside Its Psychiatric Comorbidities: A Case Report
- Tuberous sclerosis complex associated lymphangioleiomyomatosis caused by de novo mutation of TSC2 gene in Vietnam: A case report
- Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis
- Tuberous sclerosis complex: A clinical diagnosis in Ethiopian patients
- Tuberous sclerosis, a case of multiple organ involvement is reported
- Type A insulin resistance syndrome complicated with tuberous sclerosis: a case report
- Vagus Nerve Stimulation Therapy for Drug-Resistant Epilepsy in Children-A Literature Review
- Validation of the Index for Facial Angiofibromas: Data analysis from a randomized controlled trial of sirolimus gel treatment in patients with tuberous sclerosis complex
- Zebrafish <em>tsc1</em> and <em>cxcl12a</em> increase susceptibility to mycobacterial infection