Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

202 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: shi ys. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
Kainate receptor modulation by NETO2.
He L, Sun J, Gao Y, Li B, Wang Y, Dong Y, An W, Li H, Yang B, Ge Y, Zhang XC, Shi YS, Zhao Y. He L, et al. Among authors: shi ys. Nature. 2021 Nov;599(7884):325-329. doi: 10.1038/s41586-021-03936-y. Epub 2021 Sep 22. Nature. 2021. PMID: 34552241
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Rinaldi B, Ge YH, Freri E, Tucci A, Granata T, Estienne M, Sun JH, Gérard B, Bayat A, Efthymiou S, Gervasini C, Shi YS, Houlden H, Marchisio P, Milani D. Rinaldi B, et al. Among authors: shi ys. Neurogenetics. 2022 Jan;23(1):81. doi: 10.1007/s10048-021-00678-x. Neurogenetics. 2022. PMID: 34837146 Free PMC article. No abstract available.
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K, Miyoshi K, Sun JH, Hamada K, Komatsubara T, Saida K, Tsuchida N, Uchiyama Y, Fujita A, Mizuguchi T, Gerard B, Bayat A, Rinaldi B, Kato M, Tohyama J, Ogata K, Shi YS, Saito K, Miyatake S, Matsumoto N. Hamanaka K, et al. Among authors: shi ys. Hum Genet. 2022 Feb;141(2):283-293. doi: 10.1007/s00439-021-02416-7. Epub 2022 Jan 15. Hum Genet. 2022. PMID: 35031858
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Peng SX, Pei J, Rinaldi B, Chen J, Ge YH, Jia M, Wang J, Delahaye-Duriez A, Sun JH, Zang YY, Shi YY, Zhang N, Gao X, Milani D, Xu X, Sheng N, Gerard B, Zhang C, Bayat A, Liu N, Yang JJ, Shi YS. Peng SX, et al. Among authors: shi ys, shi yy. Mol Psychiatry. 2022 Oct;27(10):4092-4102. doi: 10.1038/s41380-022-01659-8. Epub 2022 Jun 13. Mol Psychiatry. 2022. PMID: 35697757
202 results