Tuberous Sclerosis Complex - Neonatal Disorders

Relevant Publications

Hyperactive mTORC1 disrupts habenula function and light preference in zebrafish model of Tuberous sclerosis complex.

Issue Release: 2024

Subpial resection of epileptogenic tubers: operative nuances and lessons learned.

Issue Release: 2024

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.

Issue Release: 2024

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.

Issue Release: 2024

High-Resolution Proteomics Unravel a Native Functional Complex of Cav1.3, SK3, and Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels in Midbrain Dopaminergic Neurons.

Issue Release: 2024

Effectiveness of Highly Purified Cannabidiol in Refractory and Super-Refractory Status Epilepticus: A Case Series.

Issue Release: 2024

A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).

Issue Release: 2024

Corrigendum to \"A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K_AKT_mTOR signaling pathway\" [GENE909 (2024) 148312/D-23-04187].

Issue Release: 2024

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Issue Release: 2024

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.

Issue Release: 2024

A multicenter, matched case-control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany.

Issue Release: 2024

Acute effects of a ketone monoester, whey protein, or their co-ingestion on mTOR trafficking and protein-protein co-localization in human skeletal muscle.

Issue Release: 2024

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female.

Issue Release: 2024

The CTLH Ubiquitin Ligase Substrates ZMYND19 and MKLN1 Negatively Regulate mTORC1 at the Lysosomal Membrane.

Issue Release: 2024

Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors.

Issue Release: 2024

A Systematic Review of Laser Treatment for Angiofibromas in Tuberous Sclerosis.

Issue Release: 2024

Dicer-Mediated mTORC1 Signaling and Parathyroid Gland Integrity and Function.

Issue Release: 2024

Vitamin D in tuberous sclerosis complex-associated tumors.

Issue Release: 2024

Regulation of TSC2 lysosome translocation and mitochondrial turnover by TSC2 acetylation status.

Issue Release: 2024

Neuropsychiatric manifestations of tuberous sclerosis in a young man in a psychiatric hospital in Botswana: a case report.

Issue Release: 2024

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