(Q27683955)

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

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19 March 2020

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity (English)

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19 March 2020

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19 March 2020

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David R Adams

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19 March 2020

Hongjie Yuan

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19 March 2020

Todd Holyoak

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19 March 2020

Katrina H Arajs

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19 March 2020

Parvin Hakimi

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19 March 2020

Thomas C Markello

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19 March 2020

Lynne A Wolfe

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19 March 2020

Thierry Vilboux

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19 March 2020

Barbara K Burton

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19 March 2020

Karin Fuentes Fajardo

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19 March 2020

George Grahame

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19 March 2020

Conisha Holloman

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19 March 2020

Murat Sincan

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19 March 2020

Ann C M Smith

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19 March 2020

Yan Huang

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19 March 2020

Hugo Vega

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19 March 2020

James P Snyder

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19 March 2020

Gretchen A Golas

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19 March 2020

Cynthia J Tifft

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19 March 2020

Cornelius F Boerkoel

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19 March 2020

Richard W Hanson

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19 March 2020

Stephen F Traynelis

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19 March 2020

Douglas S Kerr

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19 March 2020

William A Gahl

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19 March 2020

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13 April 2014

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19 March 2020

Molecular Genetics and Metabolism

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19 March 2020

113

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19 March 2020

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19 March 2020

161-170

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19 March 2020

De novo mutations in epileptic encephalopathies

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20 March 2017

The Ω-Loop Lid Domain of Phosphoenolpyruvate Carboxykinase Is Essential for Catalytic Function

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Ligand-specific deactivation time course of GluN1/GluN2D NMDA receptors

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Increasing the Conformational Entropy of the Ω-Loop Lid Domain in Phosphoenolpyruvate Carboxykinase Impairs Catalysis and Decreases Catalytic Fidelity,

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X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor

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20 March 2017

Enzymes with lid-gated active sites must operate by an induced fit mechanism instead of conformational selection

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Scalable molecular dynamics with NAMD

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Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon 2 subunit mutant mice

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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4219933

29 September 2017

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

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29 September 2017

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

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29 September 2017

Genetic modifiers of sickle cell disease

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29 September 2017

Mapping the binding of GluN2B-selective N-methyl-D-aspartate receptor negative allosteric modulators

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29 September 2017

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

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29 September 2017

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

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29 September 2017

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29 September 2017

What is the metabolic role of phosphoenolpyruvate carboxykinase?

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29 September 2017

Overexpression of the cytosolic form of phosphoenolpyruvate carboxykinase (GTP) in skeletal muscle repatterns energy metabolism in the mouse

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Subunit arrangement and function in NMDA receptors

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29 September 2017

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