Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
about
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesisNarrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptorsSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsHyperekplexia in the first year of lifeTransient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease.Glycine receptor mouse mutants: model systems for human hyperekplexia4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.Stiff-man syndrome: from the bedside to the bench.Structure and functions of inhibitory and excitatory glycine receptors.Genetics, an alternative way to discover, characterize and understand ion channels.The role of genes and family in trauma exposure and posttraumatic stress disorder.Microarray gene expression profiling of neural tissues in bovine spastic paresisContributions of conserved residues at the gating interface of glycine receptors.Chronic migraine and medication-overuse headache through the ages.Milestones in myoclonus.A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?Antidyskinetic drug therapy for pediatric movement disorders.Successful treatment of severe infantile hyperekplexia with low-dose clobazam.Major and minor form of hereditary hyperekplexia.Congenital familial hypertonia.A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam: A New Alternative in Management?A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.Ligand-Gated Ion Channels.Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.
P2860
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P2860
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@ast
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@en
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@nl
type
label
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@ast
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@en
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@nl
prefLabel
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@ast
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@en
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@nl
P2093
P3181
P356
P1433
P1476
Startle disease, or hyperekple ...... omosome 5q by linkage analysis
@en
P2093
M C Torres
R S Sparkes
R W Mackey
S L Sherman
P2860
P3181
P356
10.1002/ANA.410310615
P407
P577
1992-06-01T00:00:00Z