Hirofumi Kusumoto

Rollins Research Center, Emory University 
"Hirofumi Kusumoto"
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XiangWei W, Kannan V, Xu Y, et al. (2019) Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain : a Journal of Neurology
Li J, Zhang J, Tang W, et al. (2019) De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases. Human Mutation
Wells G, Yuan H, McDaniel MJ, et al. (2018) The GluN2B-Glu413Gly NMDA receptor variant arising from a de novo GRIN2B mutation promotes ligand-unbinding and domain opening. Proteins
Perszyk R, Katzman BM, Kusumoto H, et al. (2018) An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups. Elife. 7
Fernández-Marmiesse A, Kusumoto H, Rekarte S, et al. (2018) A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. Movement Disorders : Official Journal of the Movement Disorder Society
Fry AE, Fawcett KA, Zelnik N, et al. (2018) De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain : a Journal of Neurology
Kaiser TM, Kell SA, Kusumoto H, et al. (2017) The bioactive protein-ligand conformation of GluN2C-selective positive allosteric modulators bound to the NMDA receptor. Molecular Pharmacology
Platzer K, Yuan H, Schütz H, et al. (2017) GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics
Gao K, Tankovic A, Zhang Y, et al. (2017) A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. Plos One. 12: e0170818
Chen W, Tankovic A, Burger PB, et al. (2017) Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. Molecular Pharmacology
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