(Q39680100)

13 September 2017

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia (English)

1 reference

13 September 2017

1 reference

19

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15 May 2020

Mark I Rees

22

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15 May 2020

Seo-Kyung Chung

1

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15 May 2020

Jonathan Mullins

3

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15 May 2020

Monique Ryan

9

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15 May 2020

John Christodoulou

16

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15 May 2020

author name string

Jean-François Vanbellinghen

2

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15 May 2020

Angela Robinson

4

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15 May 2020

Janina Hantke

5

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15 May 2020

Carrie L Hammond

6

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15 May 2020

Daniel F Gilbert

7

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15 May 2020

Michael Freilinger

8

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15 May 2020

Michael C Kruer

10

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15 May 2020

Amira Masri

11

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15 May 2020

Candan Gurses

12

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15 May 2020

Colin Ferrie

13

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15 May 2020

Kirsten Harvey

14

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15 May 2020

Rita Shiang

15

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15 May 2020

Frederick Andermann

17

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15 May 2020

Eva Andermann

18

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15 May 2020

Joseph W Lynch

21

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15 May 2020

Robert J Harvey

20

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15 May 2020

language of work or name

English

0 references

publication date

1 July 2010

1 reference

13 September 2017

Journal of Neuroscience

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15 May 2020

volume

30

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15 May 2020

issue

28

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15 May 2020

page(s)

9612-9620

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describes a project that uses

15 May 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

1 reference

12 December 2020

T-Coffee: A novel method for fast and accurate multiple sequence alignment

1 reference

12 December 2020

A single beta subunit M2 domain residue controls the picrotoxin sensitivity of alphabeta heteromeric glycine receptor chloride channels

1 reference

12 December 2020

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia

1 reference

12 December 2020

Identification of a novel residue within the second transmembrane domain that confers use-facilitated block by picrotoxin in glycine alpha 1 receptors.

1 reference

12 December 2020

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

1 reference

12 December 2020

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

1 reference

12 December 2020

Anesthetic and ethanol effects on spontaneously opening glycine receptor channels

1 reference

12 December 2020

A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

1 reference

12 December 2020

Tools for comparative protein structure modeling and analysis

1 reference

12 December 2020

Structure and gating mechanism of the acetylcholine receptor pore

1 reference

12 December 2020

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

12 December 2020

Molecular structure and function of the glycine receptor chloride channel

1 reference

12 December 2020

Single nucleotide polymorphism analysis in the human phosphatase PTPrj gene using matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry

1 reference

12 December 2020

Refined structure of the nicotinic acetylcholine receptor at 4A resolution

1 reference

12 December 2020

The beta subunit determines the ligand binding properties of synaptic glycine receptors

1 reference

12 December 2020

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

1 reference

12 December 2020

A yellow fluorescent protein-based assay for high-throughput screening of glycine and GABAA receptor chloride channels.

1 reference

12 December 2020

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

1 reference

12 December 2020

Molecular determinants of ginkgolide binding in the glycine receptor pore

1 reference

12 December 2020

Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results

1 reference

12 December 2020

Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation

1 reference

12 December 2020

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients

1 reference

12 December 2020

Database resources of the National Center for Biotechnology Information

1 reference

12 December 2020

Biskit--a software platform for structural bioinformatics

1 reference

12 December 2020

Gating pore current in an inherited ion channelopathy.

1 reference

12 December 2020

Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves

1 reference

12 December 2020

Hyperekplexia caused by dominant-negative suppression of glyra1 function

1 reference

12 December 2020

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

1 reference

12 December 2020

The genetics of hyperekplexia: more than startle!

1 reference

12 December 2020

Mapping a molecular link between allosteric inhibition and activation of the glycine receptor.

1 reference

12 December 2020

Multiplexed labeling of viable cells for high-throughput analysis of glycine receptor function using flow cytometry

1 reference

12 December 2020

Ligand-specific conformational changes in the alpha1 glycine receptor ligand-binding domain

1 reference

12 December 2020

Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability

1 reference

12 December 2020

Basic local alignment search tool

1 reference

12 December 2020

Startle disease or hyperekplexia: further delineation of the syndrome

1 reference

12 December 2020

A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death

1 reference

12 December 2020

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

1 reference

12 December 2020

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

1 reference

12 December 2020

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

1 reference

12 December 2020

Sites of alcohol and volatile anaesthetic action on GABA(A) and glycine receptors.

1 reference

12 December 2020

Binding, gating, affinity and efficacy: the interpretation of structure-activity relationships for agonists and of the effects of mutating receptors

1 reference

12 December 2020

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating

1 reference

12 December 2020

10.1523/JNEUROSCI.1763-10.2010

Identifiers

DOI

1 reference

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15 May 2020

1 reference

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15 May 2020

1 reference