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Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy
P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
Therapeutic and clinical foundations of cannabidiol therapy for difficult-to-treat seizures in children and adults with refractory epilepsies
DS Reddy - Experimental neurology, 2023 - Elsevier
Novel and effective antiseizure medications are needed to treat refractory and rare forms of
epilepsy. Cannabinoids, which are obtained from the cannabis plant, have a long history of …
epilepsy. Cannabinoids, which are obtained from the cannabis plant, have a long history of …
Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial
Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC)
and is often resistant to medication. Recently, the concept of preventive antiepileptic …
and is often resistant to medication. Recently, the concept of preventive antiepileptic …
Impact of predictive, preventive and precision medicine strategies in epilepsy
Over the last decade, advances in genetics, neuroimaging and EEG have enabled the
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
AMPK-regulated astrocytic lactate shuttle plays a non-cell-autonomous role in neuronal survival
Lactate is used as an energy source by producer cells or shuttled to neighboring cells and
tissues. Both glucose and lactate fulfill the bioenergetic demand of neurons, the latter …
tissues. Both glucose and lactate fulfill the bioenergetic demand of neurons, the latter …
The genetics of tuberous sclerosis complex and related mTORopathies: current understanding and future directions
The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell
growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to …
growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to …
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
Objective This review will summarize current knowledge on the burden of illness (BOI) in
tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with …
tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with …
Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine
S Schubert-Bast, A Strzelczyk - Therapeutic advances in …, 2021 - journals.sagepub.com
Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …
[HTML][HTML] Current approaches and future directions for the treatment of mTORopathies
The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …
Autism and epilepsy in patients with tuberous sclerosis complex
N Specchio, N Pietrafusa, M Trivisano… - Frontiers in …, 2020 - frontiersin.org
Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of
develo** both epilepsy and autism spectrum disorder (ASD), but the relationship between …
develo** both epilepsy and autism spectrum disorder (ASD), but the relationship between …