(Q26830661)

main subject

stiff-person syndrome

8 references

25 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

6 November 2020

cell surface receptor

1 reference

31 July 2019

1 reference

14 September 2019

1 reference

28 November 2019

1 reference

15 December 2019

1 reference

6 November 2020

Anna Bode

1

1 reference

Joseph W Lynch

series ordinal

2

1 reference

language of work or name

1 reference

9 January 2014

9 references

25 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

6 November 2020

9 references

25 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

6 November 2020

7

1 reference

page(s)

2

1 reference

Creative Commons Attribution 2.0 Generic

copyright license

8 references

25 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

on focus list of Wikimedia project

6 November 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Principles of activation and permeation in an anion-selective Cys-loop receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

X-ray structures of general anaesthetics bound to a pentameric ligand-gated ion channel

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

X-ray structure of a pentameric ligand-gated ion channel in an apparently open conformation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Structure of a potentially open state of a proton-activated pentameric ligand-gated ion channel

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

X-ray structure of a prokaryotic pentameric ligand-gated ion channel

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Hyperekplexia: a treatable neurogenetic disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Native glycine receptor subtypes and their physiological roles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Refined structure of the nicotinic acetylcholine receptor at 4A resolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Molecular genetic reevaluation of the Dutch hyperekplexia family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Mutational analysis of familial and sporadic hyperekplexia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Identification of a gephyrin binding motif on the glycine receptor beta subunit

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

A FAMILY WITH EMOTIONALLY PRECIPITATEED "DROP SEIZURES"

7 April 2017

1 reference

https://api.crossref.org/works/10.1186/1756-6606-7-2

The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

A gating mechanism of pentameric ligand-gated ion channels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Distinct phenotypes in zebrafish models of human startle disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Glycine receptor α2 subunit activation promotes cortical interneuron migration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Glycine receptor mouse mutants: model systems for human hyperekplexia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Stoichiometry of the human glycine receptor revealed by direct subunit counting.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Allosteric modulators can restore function in an amino acid neurotransmitter receptor by slightly altering intra-molecular communication pathways

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Contributions of conserved residues at the gating interface of glycine receptors.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Novel mutation in GLRB in a large family with hereditary hyperekplexia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The specification of glycinergic neurons and the role of glycinergic transmission in development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The glycinergic system in human startle disease: a genetic screening approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Binding, activation and modulation of Cys-loop receptors.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Atomic structure and dynamics of pentameric ligand-gated ion channels: new insight from bacterial homologues.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

What have we learned from the congenital myasthenic syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Hyperekplexia mutation R271L of alpha1 glycine receptors potentiates allosteric interactions of nortropeines, propofol and glycine with [3H]strychnine binding

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Characterization of mice with targeted deletion of glycine receptor alpha 2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Molecular dynamics simulation links conformation of a pore-flanking region to hyperekplexia-related dysfunction of the inhibitory glycine receptor.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Molecular structure and function of the glycine receptor chloride channel

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Ligand-gated ion channels: mechanisms underlying ion selectivity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Openings of the rat recombinant alpha 1 homomeric glycine receptor as a function of the number of agonist molecules bound

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Mutation of the 9' leucine in the GABA(A) receptor gamma2L subunit produces an apparent decrease in desensitization by stabilizing open states without altering desensitized states

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The glycinergic inhibitory synapse.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Allosteric activation mechanism of the alpha 1 beta 2 gamma 2 gamma-aminobutyric acid type A receptor revealed by mutation of the conserved M2 leucine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Effects of mutating leucine to threonine in the M2 segment of alpha1 and beta1 subunits of GABAA alpha1beta1 receptors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Stoichiometry and subunit arrangement of α1β glycine receptors as determined by atomic force microscopy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Substitutions of the highly conserved M2 leucine create spontaneously opening rho1 gamma-aminobutyric acid receptors.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonists into competitive antagonists

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

GLRB is the third major gene of effect in hyperekplexia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Clinical features and genetic analysis of children with hyperekplexia in Korea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

A 14-year-old girl with hyperekplexia having GLRB mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Analysis of the set of GABA(A) receptor genes in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Distribution patterns of mRNAs encoding glycine receptor channels in the developing rat spinal cord.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Benzodiazepines block alpha2-containing inhibitory glycine receptors in embryonic mouse hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Propofol restores the function of "hyperekplexic" mutant glycine receptors in Xenopus oocytes and mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Functional complementation of Glra1(spd-ot), a glycine receptor subunit mutant, by independently expressed C-terminal domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

An unusual case of hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-6606-7-2

Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Changes in glycine receptor subunit expression in forebrain regions of the Wistar rat over development

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Modulation by zinc ions of native rat and recombinant human inhibitory glycine receptors.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895786

Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor

28 November 2018

1 reference

12 December 2020

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

1 reference

12 December 2020

Hyperekplexia caused by dominant-negative suppression of glyra1 function

1 reference

12 December 2020

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

1 reference

12 December 2020

Identifiers

DOI

10.1186/1756-6606-7-2

1 reference

Dimensions Publication ID

1042622335

0 references

1 reference

1 reference

PubMed publication ID

24405574

1 reference