Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) α...

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Publicat a:J Neurosci
Autors principals: Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G. L., Robinson, Angela, Hantke, Janina, Hammond, Carrie L., Gilbert, Daniel F., Freilinger, Michael, Ryan, Monique, Kruer, Michael C., Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H., Harvey, Robert J., Lynch, Joseph W., Rees, Mark I.
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 2010
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6632444/
https://ncbi.nlm.nih.gov/pubmed/20631190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1763-10.2010
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