专题:Tuberous Sclerosis Complex Research

This cluster of papers focuses on Tuberous Sclerosis Complex (TSC) and related disorders, including Lymphangioleiomyomatosis and Angiomyolipoma. It covers various aspects such as genetic mutations, neurological manifestations, use of mTOR inhibitors, diagnostic criteria, and the role of hamartin and tuberin proteins. Additionally, it explores the association with epilepsy and cognitive impairment.
最新文献
Resective Surgery for Drug-Resistant Epilepsy in Patients With Tuberous Sclerosis Complex

article Full Text OpenAlex

Somatostatin-expressing inhibitory neurons with mTORC1 activation in cortical layers 4/5 are involved in the epileptogenesis of mice

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Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

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Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)

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Drug-eluting bead transarterial chemoembolization combined with cryoablation for renal cell carcinoma

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Kidney Transplantation in a Patient With Bilateral Renal Tumor Associated With Solitary Birt-Hogg-Dube Syndrome: A Case Report

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Polo-like kinase 1 drives hypoxia-induced renal fibrosis via PTEN/PGK1-mediated glycolytic activation

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Developmental Outcome at 36 Months in Tuberous Sclerosis: Are There any Modifiable Predictors?

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Detection and characterization of NELL1 autoantibodies in NELL1 positive membranous nephropathy

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Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings

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近5年高被引文献
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

article Full Text OpenAlex 604 FWCI67.89335258

Lung-selective mRNA delivery of synthetic lipid nanoparticles for the treatment of pulmonary lymphangioleiomyomatosis

article Full Text OpenAlex 417 FWCI74.67048945

Rituximab or Cyclophosphamide in the Treatment of Membranous Nephropathy: The RI-CYCLO Randomized Trial

article Full Text OpenAlex 206 FWCI30.00089629

Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management

review Full Text OpenAlex 172 FWCI19.64913498

nab-Sirolimus for Patients With Malignant Perivascular Epithelioid Cell Tumors

article Full Text OpenAlex 149 FWCI17.09314994

Amplification of human interneuron progenitors promotes brain tumors and neurological defects

article Full Text OpenAlex 144 FWCI26.02697349

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

article Full Text OpenAlex 138 FWCI15.81515742

PDGF receptor mutations in human diseases

review Full Text OpenAlex 128 FWCI21.47853574

Epilepsy in the mTORopathies: opportunities for precision medicine

review Full Text OpenAlex 116 FWCI12.77992519

Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

review Full Text OpenAlex 96 FWCI17.23165141