A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking
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The impact of human hyperekplexia mutations on glycine receptor structure and functionRecessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stabilityGlycine receptor mouse mutants: model systems for human hyperekplexiaZebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit.Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.Mechanisms of homomeric alpha1 glycine receptor endocytosisNew hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.Impaired Glycine Receptor Trafficking in Neurological Diseases
P2860
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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
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2002 nî lūn-bûn
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2002 թուականի Մարտին հրատարակուած գիտական յօդուած
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2002 թվականի մարտին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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A novel recessive hyperekplexi ...... r glycine receptor trafficking
@ast
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en-gb
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@nl
type
label
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@ast
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en-gb
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@nl
prefLabel
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@ast
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en-gb
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@nl
P2093
P2860
P921
P356
P1476
A novel recessive hyperekplexi ...... r glycine receptor trafficking
@en
P2093
Andreas Humeny
Cord-Michael Becker
Klaus Reuter
Kristina Becker
Mehrdad Jafari-Boroujerdi
Thomas Bonk
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5200779
P407
P577
2002-03-01T00:00:00Z
P5875
P6179
1027008927