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Mutational analysis of familial and sporadic hyperekplexia

Mutational analysis of familial and sporadic hyperekplexia

http://www.wikidata.org/entity/Q28293398

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A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors The impact of human hyperekplexia mutations on glycine receptor structure and function Gating of the proton-gated ion channel from Gloeobacter violaceus at pH 4 as revealed by X-ray crystallography The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts Hyperekplexia in the first year of life Recent advances in Cys-loop receptor structure and function Hyperekplexia in neonates Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.Glycine receptor mouse mutants: model systems for human hyperekplexia Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.The glycinergic system in human startle disease: a genetic screening approach.Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship.Structure and functions of inhibitory and excitatory glycine receptors.Building new function into glycine receptors: a structural model for the activation of the glycine-gated chloride channel.NMR structures of the second transmembrane domain of the human glycine receptor alpha(1) subunit: model of pore architecture and channel gating.High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.The "Ragin' Cajuns" of Louisiana.The neuronal channelopathies.Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.A common molecular basis for exogenous and endogenous cannabinoid potentiation of glycine receptors Cannabinoid potentiation of glycine receptors contributes to cannabis-induced analgesia.Acetylcholine receptor gating at extracellular transmembrane domain interface: the cys-loop and M2-M3 linker.Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Milestones in myoclonus.Hyperekplexia in a girl with posterior fossa malformations.Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.Major and minor form of hereditary hyperekplexia.Corticospinal transmission to leg motoneurones in human subjects with deficient glycinergic inhibition.Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.Hyperekplexia: a rare differential of neonatal fits described in a developing country.Ethnicity can predict GLRA1 genotypes in hyperekplexia.Essential startle disease may not be a uniform entity.Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.Impaired Glycine Receptor Trafficking in Neurological Diseases

P2860

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P2860

Mutational analysis of familial and sporadic hyperekplexia

http://www.wikidata.org/entity/Q28293398

description

1995 nî lūn-bûn

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1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1995 թվականի հուլիսին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年论文

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name

Mutational analysis of familial and sporadic hyperekplexia

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Mutational analysis of familial and sporadic hyperekplexia

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Mutational analysis of familial and sporadic hyperekplexia

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type

label

Mutational analysis of familial and sporadic hyperekplexia

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Mutational analysis of familial and sporadic hyperekplexia

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Mutational analysis of familial and sporadic hyperekplexia

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prefLabel

Mutational analysis of familial and sporadic hyperekplexia

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Mutational analysis of familial and sporadic hyperekplexia

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Mutational analysis of familial and sporadic hyperekplexia

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P1433

Annals of Neurology

P1476

Mutational analysis of familial and sporadic hyperekplexia

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P2093

A Fryer

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

J J Wasmuth

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P O'Connell

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R J Allen

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R Shiang

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S G Ryan

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S Yamashita

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

T J Fielder

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Y Z Zhu

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P2860

Hyperekplexia: pedigree studies in two families.

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85-91

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scholarly article

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5018271

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P356

10.1002/ANA.410380115

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1

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38

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1995-07-01T00:00:00Z

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7611730

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