Disease: Bourneville syndrome- type 2
- A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex
- Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in dendrites in tuberous sclerosis complex and Alzheimer's disease
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database
- Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions
- Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children
- Biallelic ELOC-Inactivated Renal Cell Carcinoma: Molecular Features Supporting Classification as a Distinct Entity
- Cancer Predisposition Syndromes in Neuro-oncology
- Case report: The origin of transmantle-like features
- Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma
- 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
- Epilepsy surgery in children with tuberous sclerosis
- Frank's Sign: A Link Between Dermatovenerology, Cardiac Pathology, and Neurology
- Kidney collecting duct cell type composition is regulated by Notch signaling via modulation of mTORC1
- mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes
- Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal
- Neurocutaneous Disorders in Pregnancy
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Neurofibromatosis Type 1
- Neurofibromatosis Type 1
- Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
- Orbital Perivascular Epithelioid Cell Tumor in a Case of Tuberous Sclerosis
- Periplaneta americana extract CⅡ-3 induces senescence of leukemia K562 cells via SIRT1/mTOR signaling pathway
- Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases
- Persistent mTORC1 activation due to loss of liver tuberous sclerosis complex 1 promotes liver injury in alcoholic hepatitis
- Prdx5 in the Regulation of Tuberous Sclerosis Complex Mutation-Induced Signaling Mechanisms
- Prophylactic Steroids for Preventing Postembolization Syndrome after Transcatheter Arterial Embolization of Renal Angiomyolipoma: A Comparative Study
- Second-line cannabis therapy in patients with epilepsy
- Solitary atrial Rhabdomyoma in an infant with tuberous sclerosis: a case report and review of the literature
- The therapeutic potential of purified cannabidiol
- Transition readiness in adolescents and young adults with chronic genetic skin conditions
- Tyrosine Kinase Inhibitors Diminish Renal Neoplasms in a Tuberous Sclerosis Model Via Induction of Apoptosis