(Q48278633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23184146%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

GLRB is the third major gene of effect in hyperekplexia (English)

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18 February 2020

4

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18 February 2020

Owain W. Howell

23

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18 February 2020

Mark I Rees

27

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18 February 2020

Seo-Kyung Chung

1

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18 February 2020

Thomas D Cushion

3

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18 February 2020

Sian-Elin Wood

6

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18 February 2020

William O Pickrell

7

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18 February 2020

Robert J. Harvey

17

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18 February 2020

Jonathan Mullins

25

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18 February 2020

author name string

Anna Bode

2

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18 February 2020

Charlotte Hunt

5

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18 February 2020

Cheney J G Drew

8

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18 February 2020

Sumimasa Yamashita

9

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18 February 2020

Rita Shiang

10

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18 February 2020

Steffen Leiz

11

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18 February 2020

Ann-Carolyn Longardt

12

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18 February 2020

Vera Raile

13

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18 February 2020

Bernhard Weschke

14

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18 February 2020

Ratna D Puri

15

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18 February 2020

Ishwar C Verma

16

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18 February 2020

Didi D Ratnasinghe

18

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18 February 2020

Michael Parker

19

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18 February 2020

Chris Rittey

20

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18 February 2020

Amira Masri

21

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18 February 2020

Lokesh Lingappa

22

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18 February 2020

Jean-François Vanbellinghen

24

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18 February 2020

Joseph W Lynch

26

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18 February 2020

publication date

25 November 2012

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18 February 2020

published in

Human Molecular Genetics

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18 February 2020

volume

22

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18 February 2020

issue

5

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18 February 2020

page(s)

927-940

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

18 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

The genetics of hyperekplexia: more than startle!

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Identifying and prioritising epilepsy treatment uncertainties

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Gephyrin: where do we stand, where do we go?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Splice-specific glycine receptor binding, folding, and phosphorylation of the scaffolding protein gephyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Zebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Novel mutation in GLRB in a large family with hereditary hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

The small oligomerization domain of gephyrin converts MLL to an oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

GPHN, a novel partner gene fused to MLL in a leukemia with t(11;14)(q23;q24).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Mechanism of action of the insecticides, lindane and fipronil, on glycine receptor chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Glycine receptors: recent insights into their structural organization and functional diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Glycine-receptor activation is required for receptor clustering in spinal neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Cellular and subcellular localization of the inhibitory glycine receptor in hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

GABAergic and glycinergic interneuron expression during spinal cord development: dynamic interplay between inhibition and excitation in the control of ventral network outputs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS498

Functional recovery of glycine receptors in spastic murine model of startle disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDS498

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23184146%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

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