Found: 21
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A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock‐in mouse model.
- Published in:
- CNS Neuroscience & Therapeutics, 2022, v. 28, n. 2, p. 237, doi. 10.1111/cns.13761
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- Article
Progressive reduction of nuclear receptor Nr4a1 mediates age‐dependent cognitive decline.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 5, p. 3504, doi. 10.1002/alz.13819
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- Article
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
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- Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7
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- Article
Expression and localization of the mechanosensitive/osmosensitive ion channel TMEM63B in the mouse urinary tract.
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- Physiological Reports, 2024, v. 12, n. 9, p. 1, doi. 10.14814/phy2.16043
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- Article
Cryo-EM structure of TMEM63C suggests it functions as a monomer.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42956-2
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- Article
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
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- PLoS Genetics, 2021, v. 17, n. 6, p. 1, doi. 10.1371/journal.pgen.1009608
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- Article
Signal peptide represses GluK1 surface and synaptic trafficking through binding to amino-terminal domain.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07403-7
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- Article
Genetic inhibition of PDK1 robustly reduces plaque deposition and ameliorates gliosis in the 5×FAD mouse model of Alzheimer's disease.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12839
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- Article
A novel Lgi1 mutation causes white matter abnormalities and impairs motor coordination in mice.
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- FASEB Journal, 2022, v. 36, n. 3, p. 1, doi. 10.1096/fj.202101652R
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- Article
Deficiency of transmembrane AMPA receptor regulatory protein γ-8 leads to attention-deficit hyperactivity disorder-like behavior in mice.
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- Zoological Research, 2022, v. 43, n. 5, p. 851, doi. 10.24272/j.issn.2095-8137.2022.122
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- Article
Kainate receptors GluK1 and GluK2 differentially regulate synapse morphology.
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- Synapse, 2023, v. 77, n. 1, p. 1, doi. 10.1002/syn.22255
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- Article
Proline‐rich transmembrane protein 2 specifically binds to GluA1 but has no effect on AMPA receptor‐mediated synaptic transmission.
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- Journal of Clinical Laboratory Analysis, 2022, v. 36, n. 2, p. 1, doi. 10.1002/jcla.24196
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- Article
TMEM63B channel is the osmosensor required for thirst drive of interoceptive neurons.
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- Cell Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41421-023-00628-x
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- Article
SNP rs10420324 in the AMPA receptor auxiliary subunit TARP γ-8 regulates the susceptibility to antisocial personality disorder.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91415-9
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- Article
Loss of PP2A Disrupts the Retention of Radial Glial Progenitors in the Telencephalic Niche to Impair the Generation for Late-Born Neurons During Cortical Development.
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- Cerebral Cortex, 2020, v. 30, n. 7, p. 4183, doi. 10.1093/cercor/bhaa042
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- Article
Pen-2 Negatively Regulates the Differentiation of Oligodendrocyte Precursor Cells into Astrocytes in the Central Nervous System.
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- Journal of Neuroscience, 2021, v. 41, n. 23, p. 4976, doi. 10.1523/JNEUROSCI.2455-19.2021
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- Article
Conditional Inactivation of Pen-2 in the Developing Neocortex Leads to Rapid Switch of Apical Progenitors to Basal Progenitors.
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- Journal of Neuroscience, 2019, v. 39, n. 12, p. 2195, doi. 10.1523/JNEUROSCI.2523-18.2019
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- Article
An independent, replicable, functional and significant risk variant block at intron 3 of CACNA1C for schizophrenia.
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- Australian & New Zealand Journal of Psychiatry, 2022, v. 56, n. 4, p. 385, doi. 10.1177/00048674211009595
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- Article
Neuroplastin in Ca<sup>2+</sup> signal regulation and plasticity of glutamatergic synapses.
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- Neural Regeneration Research, 2023, v. 18, n. 8, p. 1705, doi. 10.4103/1673-5374.363826
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- Article
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
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- 2022
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- Correction Notice
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1
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- Publication type:
- Article