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1.
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Brain
; 147(1): 224-239, 2024 01 04.
Article
in English
| MEDLINE | ID: mdl-37647766
2.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Article
in English
| MEDLINE | ID: mdl-37606373
3.
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
J Neurochem
; 2023 Aug 24.
Article
in English
| MEDLINE | ID: mdl-37621067
4.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain
; 145(4): 1299-1309, 2022 05 24.
Article
in English
| MEDLINE | ID: mdl-34633442
5.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906499
6.
Tubulin-Binding 3,5-Bis(styryl)pyrazoles as Lead Compounds for the Treatment of Castration-Resistant Prostate Cancer.
Mol Pharmacol
; 97(6): 409-422, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32241960
7.
The Synthesis and Evaluation of Fluoro-, Trifluoromethyl-, and Iodomuscimols as GABA Agonists.
Chemistry
; 23(45): 10848-10852, 2017 Aug 10.
Article
in English
| MEDLINE | ID: mdl-28598039
8.
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Epilepsia
; 63(9): 2439-2441, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35781801
9.
Identification of dual PPARα/γ agonists and their effects on lipid metabolism.
Bioorg Med Chem
; 23(24): 7676-84, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26616289
10.
3,5-bis(styryl)pyrazole inhibits mitosis and induces cell death independent of BubR1 and p53 levels by depolymerizing microtubules.
J Biochem
; 174(2): 143-164, 2023 Jul 31.
Article
in English
| MEDLINE | ID: mdl-37039772
11.
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant.
Ann Clin Transl Neurol
; 10(8): 1493-1498, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37434477
12.
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Nat Commun
; 13(1): 1822, 2022 04 05.
Article
in English
| MEDLINE | ID: mdl-35383156
13.
The Z-Drugs Zolpidem, Zaleplon, and Eszopiclone Have Varying Actions on Human GABA A Receptors Containing γ1, γ2, and γ3 Subunits.
Front Neurosci
; 14: 599812, 2020.
Article
in English
| MEDLINE | ID: mdl-33328871
14.
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Brain Commun
; 2(2): fcaa162, 2020.
Article
in English
| MEDLINE | ID: mdl-33585817
15.
Galantamine is not a positive allosteric modulator of human α4ß2 or α7 nicotinic acetylcholine receptors.
Br J Pharmacol
; 175(14): 2911-2925, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29669164
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