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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: ernst m. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal DS, Meitinger T, Pataraia E, Zimprich F, Aull-Watschinger S. Krenn M, et al. Among authors: ernst m. Ann Clin Transl Neurol. 2019 Nov;6(11):2317-2322. doi: 10.1002/acn3.50895. Epub 2019 Sep 30. Ann Clin Transl Neurol. 2019. PMID: 31568673 Free PMC article.
Cys-loop receptors on cannabinoids: All high?
Schmiedhofer P, Vogel FD, Koniuszewski F, Ernst M. Schmiedhofer P, et al. Among authors: ernst m. Front Physiol. 2022 Nov 9;13:1044575. doi: 10.3389/fphys.2022.1044575. eCollection 2022. Front Physiol. 2022. PMID: 36439263 Free PMC article.
Novel alpha6 preferring GABA-A receptor ligands based on loreclezole.
Simeone X, Ernst M, Seidel T, Heider J, Enz D, Monticelli S, Vogel FD, Koniuszewski F, Langer T, Scholze P, Pace V, Miele M. Simeone X, et al. Among authors: ernst m. Eur J Med Chem. 2022 Dec 15;244:114780. doi: 10.1016/j.ejmech.2022.114780. Epub 2022 Sep 17. Eur J Med Chem. 2022. PMID: 36279694
GABAA receptor-mediated seizure liabilities: a mixed-methods screening approach.
Bampali K, Koniuszewski F, Vogel FD, Fabjan J, Andronis C, Lekka E, Virvillis V, Seidel T, Delaunois A, Royer L, Rolf MG, Giuliano C, Traebert M, Roussignol G, Fric-Bordat M, Mazelin-Winum L, Bryant SD, Langer T, Ernst M. Bampali K, et al. Among authors: ernst m. Cell Biol Toxicol. 2023 Dec;39(6):2793-2819. doi: 10.1007/s10565-023-09803-y. Epub 2023 Apr 24. Cell Biol Toxicol. 2023. PMID: 37093397 Free PMC article.
2,154 results