Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

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The impact of human hyperekplexia mutations on glycine receptor structure and function Glycine receptor mouse mutants: model systems for human hyperekplexia Impaired Glycine Receptor Trafficking in Neurological Diseases

P2860

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P2860

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Item

http://www.wikidata.org/entity/Q46383497

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2004 nî lūn-bûn

@nan

2004年の論文

@ja

2004年学术文章

@wuu

2004年学术文章

@zh-cn

2004年学术文章

@zh-hans

2004年学术文章

@zh-my

2004年学术文章

@zh-sg

2004年學術文章

@yue

2004年學術文章

@zh

2004年學術文章

@zh-hant

name

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@en

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@nl

type

Item

label

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@en

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@nl

prefLabel

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@en

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@nl

P1476

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

@en

P2093

Bruce T Lahn

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

Fatih Ozdag

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

Sandra L Gilbert

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

Umit H Ulas

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

William B Dobyns

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

P2860

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

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

Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors

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

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

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

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

Hyperekplexia: a treatable neurogenetic disease

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

Mutational analysis of familial and sporadic hyperekplexia

P2888

bf03260058

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151-155

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scholarly article

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10.1007/BF03260058

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P478

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P577

2004-01-01T00:00:00Z

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P698

15771552

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Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

about

P2860

P2860

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698