Literature DB >> 29217988

GRIN and Bear the Diverse Functional Effects of Rare NMDA Receptor Variants.

Matthew C Weston.   

Abstract

Year:  2017        PMID: 29217988      PMCID: PMC5706366          DOI: 10.5698/1535-7597.17.6.381

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  9 in total

Review 1.  Glutamate receptor ion channels: structure, regulation, and function.

Authors:  Stephen F Traynelis; Lonnie P Wollmuth; Chris J McBain; Frank S Menniti; Katie M Vance; Kevin K Ogden; Kasper B Hansen; Hongjie Yuan; Scott J Myers; Ray Dingledine
Journal:  Pharmacol Rev       Date:  2010-09       Impact factor: 25.468

Review 2.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

3.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2014-09-25       Impact factor: 11.025

Review 4.  Advancing NMDA Receptor Physiology by Integrating Multiple Approaches.

Authors:  Huan-Xiang Zhou; Lonnie P Wollmuth
Journal:  Trends Neurosci       Date:  2017-02-08       Impact factor: 13.837

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

Authors:  Sharon A Swanger; Wenjuan Chen; Gordon Wells; Pieter B Burger; Anel Tankovic; Subhrajit Bhattacharya; Katie L Strong; Chun Hu; Hirofumi Kusumoto; Jing Zhang; David R Adams; John J Millichap; Slavé Petrovski; Stephen F Traynelis; Hongjie Yuan
Journal:  Am J Hum Genet       Date:  2016-11-10       Impact factor: 11.025

Review 6.  A roadmap for precision medicine in the epilepsies.

Authors: 
Journal:  Lancet Neurol       Date:  2015-09-20       Impact factor: 44.182

Review 7.  Sequencing studies in human genetics: design and interpretation.

Authors:  David B Goldstein; Andrew Allen; Jonathan Keebler; Elliott H Margulies; Steven Petrou; Slavé Petrovski; Shamil Sunyaev
Journal:  Nat Rev Genet       Date:  2013-06-11       Impact factor: 53.242

8.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

9.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

  9 in total

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