| Year |
Citation |
Score |
| 2024 |
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, ... ... Kusumoto H, et al. De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cellular and Molecular Life Sciences : Cmls. 81: 153. PMID 38538865 DOI: 10.1007/s00018-023-05069-z |
0.487 |
|
| 2019 |
XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, et al. Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain : a Journal of Neurology. PMID 31504254 DOI: 10.1093/Brain/Awz232 |
0.667 |
|
| 2019 |
Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Perozo E, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, et al. De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases. Human Mutation. PMID 31429998 DOI: 10.1002/Humu.23895 |
0.659 |
|
| 2018 |
Wells G, Yuan H, McDaniel MJ, Kusumoto H, Snyder JP, Liotta DC, Traynelis SF. The GluN2B-Glu413Gly NMDA receptor variant arising from a de novo GRIN2B mutation promotes ligand-unbinding and domain opening. Proteins. PMID 30168177 DOI: 10.1002/Prot.25595 |
0.656 |
|
| 2018 |
Perszyk R, Katzman BM, Kusumoto H, Kell SA, Epplin MP, Tahirovic YA, Moore RL, Menaldino D, Burger P, Liotta DC, Traynelis SF. An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups. Elife. 7. PMID 29792594 DOI: 10.7554/Elife.34711 |
0.609 |
|
| 2018 |
Fernández-Marmiesse A, Kusumoto H, Rekarte S, Roca I, Zhang J, Myers SJ, Traynelis SF, Couce ML, Gutierrez-Solana L, Yuan H. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29644724 DOI: 10.1002/Mds.27315 |
0.649 |
|
| 2018 |
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, ... ... Kusumoto H, et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain : a Journal of Neurology. PMID 29365063 DOI: 10.1093/Brain/Awx358 |
0.667 |
|
| 2018 |
Perszyk R, Katzman BM, Kusumoto H, Kell SA, Epplin MP, Tahirovic YA, Moore RL, Menaldino D, Burger P, Liotta DC, Traynelis SF. Author response: An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups Elife. DOI: 10.7554/Elife.34711.058 |
0.529 |
|
| 2017 |
Kaiser TM, Kell SA, Kusumoto H, Shaulsky G, Bhattacharya S, Epplin MP, Strong KL, Miller EJ, Cox BD, Menaldino DS, Liotta DC, Traynelis SF, Burger PB. The bioactive protein-ligand conformation of GluN2C-selective positive allosteric modulators bound to the NMDA receptor. Molecular Pharmacology. PMID 29242355 DOI: 10.1124/Mol.117.110940 |
0.646 |
|
| 2017 |
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics. PMID 28377535 DOI: 10.1136/Jmedgenet-2016-104509 |
0.506 |
|
| 2017 |
Gao K, Tankovic A, Zhang Y, Kusumoto H, Zhang J, Chen W, XiangWei W, Shaulsky GH, Hu C, Traynelis SF, Yuan H, Jiang Y. A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. Plos One. 12: e0170818. PMID 28182669 DOI: 10.1371/Journal.Pone.0170818 |
0.64 |
|
| 2017 |
Chen W, Tankovic A, Burger PB, Kusumoto H, Traynelis SF, Yuan H. Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. Molecular Pharmacology. PMID 28126851 DOI: 10.1124/Mol.116.106781 |
0.697 |
|
| 2017 |
Ogden KK, Chen W, Swanger SA, McDaniel MJ, Fan LZ, Hu C, Tankovic A, Kusumoto H, Kosobucki GJ, Schulien AJ, Su Z, Pecha J, Bhattacharya S, Petrovski S, Cohen AE, et al. Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. Plos Genetics. 13: e1006536. PMID 28095420 DOI: 10.1371/Journal.Pgen.1006536 |
0.693 |
|
| 2016 |
Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL, Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF, Yuan H. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. American Journal of Human Genetics. PMID 27839871 DOI: 10.1016/J.Ajhg.2016.10.002 |
0.652 |
|
| 2016 |
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, ... Kusumoto H, et al. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American Journal of Human Genetics. PMID 27616483 DOI: 10.1016/J.Ajhg.2016.07.013 |
0.682 |
|
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