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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. Fry AE, et al. Among authors: zhang j. Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358. Brain. 2018. PMID: 29365063 Free PMC article.
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
Fernández-Marmiesse A, Kusumoto H, Rekarte S, Roca I, Zhang J, Myers SJ, Traynelis SF, Couce ML, Gutierrez-Solana L, Yuan H. Fernández-Marmiesse A, et al. Among authors: zhang j. Mov Disord. 2018 Jul;33(6):992-999. doi: 10.1002/mds.27315. Epub 2018 Apr 11. Mov Disord. 2018. PMID: 29644724 Free PMC article.
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H. Li J, et al. Among authors: zhang j. Hum Mutat. 2019 Dec;40(12):2393-2413. doi: 10.1002/humu.23895. Epub 2019 Sep 10. Hum Mutat. 2019. PMID: 31429998 Free PMC article.
Novel neuroactive steroids as positive allosteric modulators of NMDA receptors: mechanism, site of action, and rescue pharmacology on GRIN variants associated with neurological conditions.
Tang W, Beckley JT, Zhang J, Song R, Xu Y, Kim S, Quirk MC, Robichaud AJ, Diaz ES, Myers SJ, Doherty JJ, Ackley MA, Traynelis SF, Yuan H. Tang W, et al. Among authors: zhang j. Cell Mol Life Sci. 2023 Jan 16;80(2):42. doi: 10.1007/s00018-022-04667-7. Cell Mol Life Sci. 2023. PMID: 36645496 Free PMC article.
164,897 results
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