STARDEV Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia
Sign Up to like & getrecommendations! Published in 2025 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.70071
Abstract: Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking. read more here.
Keywords: study neurodevelopmental; stardev study; startle disease; long term ... See more keywords
Impaired Glycine Receptor Trafficking in Neurological Diseases
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2018.00291
Abstract: Ionotropic glycine receptors (GlyRs) enable fast synaptic neurotransmission in the adult spinal cord and brainstem. The inhibitory GlyR is a transmembrane glycine-gated chloride channel. The immature GlyR protein undergoes various processing steps, e.g., folding, assembly,… read more here.
Keywords: startle disease; life cycle; glyr; receptor trafficking ... See more keywords