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A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterizationThe impact of human hyperekplexia mutations on glycine receptor structure and functionLeft-Handed Dimer of EphA2 Transmembrane Domain: Helix Packing Diversity among Receptor Tyrosine KinasesDifferentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunitsMolecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.Startle myoclonus induced by Lyme neuroborreliosis: a case report.4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.The glycinergic system in human startle disease: a genetic screening approach.Defective glycinergic synaptic transmission in zebrafish motility mutants.Glycinergic synapse development, plasticity, and homeostasis in zebrafish.Phase encoding in the Mauthner system: implications in left-right sound source discrimination.Increased whole-body auditory startle reflex and autonomic reactivity in children with anxiety 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 reviewNeonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Cataplexy and Its Mimics: Clinical Recognition and Management.The startle syndromes: physiology and treatment.Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.Latah: an Indonesian startle syndrome.De novo exon duplication in a new allele of mouse Glra1 (spasmodic)A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case reportStoichiometry of the human glycine receptor revealed by direct subunit counting."Gunslinger's gait": a new cause of unilaterally reduced arm swing.Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.A continuum method for determining membrane protein insertion energies and the problem of charged residues.Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia.TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a familyNew hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.High Throughput Techniques for Discovering New Glycine Receptor Modulators and their Binding Sites.What single-channel analysis tells us of the activation mechanism of ligand-gated channels: the case of the glycine receptor.Provoked and reflex seizures: surprising or common?Epileptic and non-epileptic paroxysmal motor phenomena in newborns.Reflex epileptic mechanisms in ictogenesis and therapeutic consequences.Adult onset startle epilepsy.Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes.Single-channel study of the spasmodic mutation alpha1A52S in recombinant rat glycine receptors.Tropisetron modulation of the glycine receptor: femtomolar potentiation and a molecular determinant of inhibition.
P2860
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P2860
description
2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2006
@ast
scientific article (publication date: June 2006)
@en
vedecký článok (publikovaný 2006-06)
@sk
vědecký článek publikovaný v roce 2006
@cs
wetenschappelijk artikel (gepubliceerd in 2006-06)
@nl
наукова стаття, опублікована в червні 2006
@uk
مقالة علمية (نشرت في يونيو 2006)
@ar
name
Startle syndromes
@ast
Startle syndromes
@en
Startle syndromes
@nl
type
label
Startle syndromes
@ast
Startle syndromes
@en
Startle syndromes
@nl
prefLabel
Startle syndromes
@ast
Startle syndromes
@en
Startle syndromes
@nl
P2093
P1433
P1476
Startle syndromes
@en
P2093
J Gert van Dijk
Marina A J Tijssen
Mirte J Bakker
P304
P356
10.1016/S1474-4422(06)70470-7
P407
P577
2006-06-01T00:00:00Z