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Hirofumi Kusumoto
Hirofumi Kusumoto
Harbor UCLA Medical Center
Verified email at dhs.lacounty.gov
Title
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Cited by
Year
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
2562017
Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains
SA Swanger, W Chen, G Wells, PB Burger, A Tankovic, S Bhattacharya, ...
The American Journal of Human Genetics 99 (6), 1261-1280, 2016
1772016
GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers
D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ...
The American Journal of Human Genetics 99 (4), 802-816, 2016
1722016
Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology
KK Ogden, W Chen, SA Swanger, MJ McDaniel, LZ Fan, C Hu, ...
PLoS genetics 13 (1), e1006536, 2017
1282017
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
AE Fry, KA Fawcett, N Zelnik, H Yuan, BAN Thompson, L Shemer-Meiri, ...
Brain 141 (3), 698-712, 2018
1012018
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
K Gao, A Tankovic, Y Zhang, H Kusumoto, J Zhang, W Chen, W XiangWei, ...
PLoS One 12 (2), e0170818, 2017
742017
Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy
W Chen, A Tankovic, PB Burger, H Kusumoto, SF Traynelis, H Yuan
Molecular pharmacology 91 (4), 317-330, 2017
732017
De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases
J Li, J Zhang, W Tang, RK Mizu, H Kusumoto, W XiangWei, Y Xu, W Chen, ...
Human mutation 40 (12), 2393-2413, 2019
682019
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
W XiangWei, V Kannan, Y Xu, GJ Kosobucki, AJ Schulien, H Kusumoto, ...
Brain 142 (10), 3009-3027, 2019
612019
An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups
R Perszyk, BM Katzman, H Kusumoto, SA Kell, MP Epplin, YA Tahirovic, ...
Elife 7, e34711, 2018
402018
Short term outcomes of an enhanced recovery after surgery (ERAS) pathway versus a traditional discharge pathway after posterior spinal fusion for adolescent idiopathic scoliosis
ND Fletcher, JS Murphy, TM Austin, RW Bruce, H Harris, P Bush, A Yu, ...
Spine Deformity 9, 1013-1019, 2021
332021
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder
A Fernández‐Marmiesse, H Kusumoto, S Rekarte, I Roca, J Zhang, ...
Movement Disorders 33 (6), 992-999, 2018
322018
Factors contributing to diurnal variation in athletic performance and methods to reduce within-day performance variation: a systematic review
H Kusumoto, C Ta, SM Brown, MK Mulcahey
The Journal of Strength & Conditioning Research 35, S119-S135, 2021
242021
The GluN2B‐Glu413Gly NMDA receptor variant arising from a de novo GRIN2B mutation promotes ligand‐unbinding and domain opening
G Wells, H Yuan, MJ McDaniel, H Kusumoto, JP Snyder, DC Liotta, ...
Proteins: Structure, Function, and Bioinformatics 86 (12), 1265-1276, 2018
212018
The bioactive protein-ligand conformation of GluN2C-selective positive allosteric modulators bound to the NMDA receptor
TM Kaiser, SA Kell, H Kusumoto, G Shaulsky, S Bhattacharya, MP Epplin, ...
Molecular pharmacology 93 (2), 141-156, 2018
172018
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
Y Xu, R Song, RE Perszyk, W Chen, S Kim, KL Park, JP Allen, KA Nocilla, ...
Cellular and Molecular Life Sciences 81 (1), 153, 2024
82024
Management of orthopaedic emergencies during a pandemic: compartment syndrome of the hand in a patient with COVID-19: a case report
KL Hill, VJ Wu, H Kusumoto, WF Sherman, FH Savoie III
JBJS Case Connector 10 (3), e20, 2020
42020
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Articles 1–17