Associated Papers
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Galea B et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.
Baldassari S et al.
Nature Neuroscience, 2025
mTOR Variants Activation Discovers PI3K-like Cryptic Pocket, Expanding Allosteric, Mutant-Selective Inhibitor Designs.
Liu Y et al.
Journal of Chemical Information and Modeling, 2025
Germline variants in patients diagnosed with pediatric soft tissue sarcoma.
Yndestad S et al.
Acta Oncologica (stockholm, Sweden), 2024
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Ribierre T et al.
Nature Neuroscience, 2024
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Macdonald-Laurs E et al.
Brain : a Journal of Neurology, 2024
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L et al.
Epilepsy & Behavior : E&b, 2024
Phase I Study of mTORC1/2 Inhibitor Sapanisertib (CB-228/TAK-228) in Combination with Metformin in Patients with mTOR/AKT/PI3K Pathway Alterations and Advanced Solid Malignancies.
Subbiah V et al.
Cancer Research Communications, 2024
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
Lee WS et al.
Epilepsia Open, 2023
The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism.
Wang Y et al.
Neuropathology and Applied Neurobiology, 2023
Target therapy for BRAF mutated anaplastic thyroid cancer: a clinical and molecular study.
da Silva TN et al.
European Journal of Endocrinology, 2023
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II.
Lee WS et al.
Brain : a Journal of Neurology, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Emergence of mTOR mutation as an acquired resistance mechanism to AKT inhibition, and subsequent response to mTORC1/2 inhibition.
Coleman N et al.
Npj Precision Oncology, 2021
Non-Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia.
Koh HY et al.
Annals of Neurology, 2021
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Kim S et al.
Annals of Neurology, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.
Nguyen LH et al.
Frontiers in Neuroanatomy, 2021
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS et al.
Neurology, 2020
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Dimartino P et al.
Molecular Diagnosis & Therapy, 2020
Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.
Jesus-Ribeiro J et al.
Frontiers in Neuroscience, 2020
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
Molecular biomarkers predicting early development of endometrial carcinoma: A pilot study.
Lupini L et al.
European Journal of Cancer Care, 2019
Pathological mTOR mutations impact cortical development.
Tarkowski B et al.
Human Molecular Genetics, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation.
Sim NS et al.
Neurology. Genetics, 2018
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama AM et al.
Cell Reports, 2017
Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.
Hanai S et al.
The American Journal of Pathology, 2017
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Nakashima M et al.
Annals of Neurology, 2015
The Challenge of Somatic Variants in Focal Cortical Dysplasia.
Jesus-Ribeiro J et al.
Innovations in Clinical Neuroscience, 0