Chun Hu

发表

Human GRIN2B variants in neurodevelopmental disorders

Scott J. Myers, Stephen F. Traynelis, S. Traynelis, 2016, Journal of pharmacological sciences.

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

Stephen F Traynelis, David R Adams, Jing Zhang, 2016, American journal of human genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

A. Cohen, S. Petrovski, S. Traynelis, 2017, PLoS genetics.

De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases

L. Wollmuth, S. Petrovski, W. Wilcox, 2019, Human mutation.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

H. Mefford, A. Fry, D. Pilz, 2018, Brain : a journal of neurology.

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

S. Traynelis, Hongjie Yuan, Yuwu Jiang, 2017, PloS one.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Marni J. Falk, H. Hakonarson, R. Chiavacci, 2016, American journal of human genetics.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Marni J. Falk, H. Hakonarson, R. Chiavacci, 2016, American journal of human genetics.

L. Wollmuth, S. Petrovski, S. Traynelis, 2019 .