Results 51 to 60 of about 1,802 (202)
Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.Platform system to create biofabricated 3D spinal cord tissue models: Combining high resolution PCL fiber placement, a customized, hyaluronic acid‐based hydrogel, two cell types (spinal cord neurons and astrocytes) together with three distinct laminin isoforms allow the formation of functional cell–cell network interactions.
Nicoletta Murenu +12 more
wiley +1 more source
Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity [PDF]
, 2021 See Dickenson (doi:10.1093/brain/awx334) for a scientific commentary on this article. Hyperekplexia is a rare genetic disease resulting in glycine receptor dysfunction.
Schmitt, Bernhard +6 more
core
Persisting hyperekplexia after idiopathic, self-limiting brainstem encephalopathy.
, 2007 Contains fulltext : 51533.pdf (Publisher’s version ) (Open Access)Symptomatic hyperekplexia is a relatively rare entity, but has been documented in various, mostly brainstem diseases. We report the clinical and neurophysiologic vignette
Warrenburg, B.P.C. van de +7 more
core +1 more source
Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants
Frontiers in Molecular Neuroscience, 2020 A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) β subunit.
Natascha Schaefer +8 more
doaj +1 more source
Brain Pathology, Volume 36, Issue 2, March 2026.Deep learning tissue mapping can guide region of interest selection for spatial transcriptomic analyses. Using this method, a transcriptional catalogue of focal cortical dysplasia type IIb was generated, revealing enrichment for markers of inhibitory glycinergic signaling in cytomegalic dysmorphic neurons.
Ameesha Paliwal +8 more
wiley +1 more source
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report [PDF]
, 2014 INTRODUCTION: Hereditary hyperekplexia is a neurological disorder characterized by excessive startle responses with violent jerking to noise or touch, stiffening of the trunk and limbs, clenching of the fists and attacks of a high-frequency trembling ...
Ferdinandyné Horváth, Emese +9 more
core +1 more source
Frontiers in Neurology, 2021 Introduction: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a severe form of stiff-person spectrum disorder characterized by painful spasms, myoclonic jerks, hyperekplexia, brainstem dysfunction, and dysautonomia, which is sometimes
Yuzo Fujino +5 more
doaj +1 more source
Glycine Reverses Behavioral Deficits in a Mouse Model for Psychosis With 4 Copies of the Gldc Gene
Pharmacology Research &Perspectives, Volume 13, Issue 6, December 2025.Mice with 4 copies of the glycine decarboxylase (Gldc) gene display startle habituation deficits, which are reversed by treatment with glycine. In control‐treated wild type mice (A), the response to the last startle stimuli is lower than the response to the first startle stimuli. In control‐treated mice with 4 copies of the 9p24.1 genes including Gldc (
Muxiao Wang +4 more
wiley +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.
, 2006 Autosomal recessive hyperekplexia is due to loss-of-function mutations in the GLRA1 gene. The authors describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder ...
Pandolfo, Massimo +4 more
core +1 more source