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Structure, function, and pharmacology of glutamate receptor ion channels
KB Hansen, LP Wollmuth, D Bowie, H Furukawa… - Pharmacological …, 2021 - Elsevier
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
NMDA receptor functions in health and disease: Old actor, new dimensions
N-Methyl-D-aspartate ionotropic glutamate receptors (NMDARs) play key roles in
synaptogenesis, synaptic maturation, long-term plasticity, neuronal network activity, and …
synaptogenesis, synaptic maturation, long-term plasticity, neuronal network activity, and …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
Developmental and epileptic encephalopathies
IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
The genetics of epilepsy
P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
The origin of NMDA receptor hypofunction in schizophrenia
K Nakazawa, K Sapkota - Pharmacology & therapeutics, 2020 - Elsevier
Abstract N-methyl-d-aspartate (NMDA) receptor (NMDAR) hypofunction plays a key role in
pathophysiology of schizophrenia. Since NMDAR hypofunction has also been reported in …
pathophysiology of schizophrenia. Since NMDAR hypofunction has also been reported in …
GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia
PJ Harrison, DM Bannerman - Molecular psychiatry, 2023 - nature.com
Involvement of the glutamate system, particularly N-methyl-D-aspartate (NMDA) receptor
hypofunction, has long been postulated to be part of the pathophysiology of schizophrenia …
hypofunction, has long been postulated to be part of the pathophysiology of schizophrenia …
Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia
By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …
Epilepsy and developmental disorders: Next generation sequencing in the clinic
JD Symonds, A McTague - European Journal of Paediatric Neurology, 2020 - Elsevier
Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …