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
about
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor traffickingAnalysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesisA GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptorsA novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexiaThe impact of human hyperekplexia mutations on glycine receptor structure and functionSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsThe human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcriptsHyperekplexia in the first year of lifeIsoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaRecessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stabilityHyperekplexia in neonatesIdentification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channelLow level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic miceTransient 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 hyperekplexiaThe glycinergic system in human startle disease: a genetic screening approach.A critical role for glycine transporters in hyperexcitability disorders.A novel syndrome of lethal familial hyperekplexia associated with brain malformation.Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical reviewA novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceBuilding 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.Microarray gene expression profiling of neural tissues in bovine spastic paresisHyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.Successful treatment of severe infantile hyperekplexia with low-dose clobazam.Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.Major and minor form of hereditary hyperekplexia.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.GLRB is the third major gene of effect in hyperekplexia.Development of glycinergic synaptic transmission to rat brain stem motoneurons.Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.
P2860
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P2860
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
description
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1994
@ast
scientific article (publication date: December 1994)
@en
vedecký článok (publikovaný 1994-12)
@sk
vědecký článek publikovaný v roce 1994
@cs
wetenschappelijk artikel (gepubliceerd in 1994-12)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в грудні 1994
@uk
научни чланак (објављен 1994-12)
@sr
name
Evidence for recessive as well ...... he inhibitory glycine receptor
@ast
Evidence for recessive as well ...... he inhibitory glycine receptor
@en
Evidence for recessive as well ...... he inhibitory glycine receptor
@nl
type
label
Evidence for recessive as well ...... he inhibitory glycine receptor
@ast
Evidence for recessive as well ...... he inhibitory glycine receptor
@en
Evidence for recessive as well ...... he inhibitory glycine receptor
@nl
prefLabel
Evidence for recessive as well ...... he inhibitory glycine receptor
@ast
Evidence for recessive as well ...... he inhibitory glycine receptor
@en
Evidence for recessive as well ...... he inhibitory glycine receptor
@nl
P2093
P3181
P356
P1476
Evidence for recessive as well ...... he inhibitory glycine receptor
@en
P2093
P304
P3181
P356
10.1093/HMG/3.12.2175
P407
P50
P577
1994-12-01T00:00:00Z