Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

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Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia.Impaired Glycine Receptor Trafficking in Neurological Diseases Glycine is able to induce both a motility speed in- and decrease during zebrafish neuronal migration

P2860

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P2860

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

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2014 nî lūn-bûn

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2014年の論文

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@yue

2014年論文

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2014年論文

@zh-hk

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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

@en

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

@nl

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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

@en

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

@nl

P1476

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

@en

P2093

Agnes Herczegfalvi

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Emese Horváth

http://www.w3.org/2001/XMLSchema#string

Katalin Farkas

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Márta Széll

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Nikoletta Nagy

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P2860

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

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

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

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

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

Point mutation of glycine receptor alpha 1 subunit in the spasmodic mouse affects agonist responses

A FAMILY WITH EMOTIONALLY PRECIPITATEED "DROP SEIZURES"

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Molecular structure and function of the glycine receptor chloride channel.

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

P2888

1752-1947-8-233

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scholarly article

case report

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10.1186/1752-1947-8-233

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English

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2014-06-26T00:00:00Z

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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

about

P2860

P2860

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P577

P5875

P6179

P698

P932