[HTML][HTML] A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

C Giménez, G Pérez-Siles, J Martínez-Villarreal… - Journal of Biological …, 2012 - ASBMB
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although …

[PDF][PDF] A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

C Giménez, G Pérez-Siles… - THE JOURNAL OF …, 2012 - academia.edu
Background: Hyperekplexia or startle disease is caused by defects in glycinergic
transmission. Results: A new mutation pY705C in the glycine transporter GlyT2 alters protein …

[PDF][PDF] A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

C Giménez, G Pérez-Siles… - THE JOURNAL OF …, 2012 - research.usc.edu.au
Background: Hyperekplexia or startle disease is caused by defects in glycinergic
transmission. Results: A new mutation pY705C in the glycine transporter GlyT2 alters protein …

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

C Giménez, G Pérez-Siles… - The Journal of …, 2012 - europepmc.org
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although …

[HTML][HTML] A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

C Giménez, G Pérez-Siles… - The Journal of …, 2012 - ncbi.nlm.nih.gov
Results: A new mutation pY705C in the glycine transporter GlyT2 alters protein trafficking
and H+ and Zn 2+ transport modulation. Conclusion: Multiple pathogenic mechanisms may …

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

C Giménez, G Pérez-Siles… - The Journal of …, 2012 - pubmed.ncbi.nlm.nih.gov
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although …

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

C Gimenez, G Perez-Siles… - Journal of Biological …, 2012 - orca.cardiff.ac.uk
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although …

[HTML][HTML] A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

C Giménez, G Pérez-Siles, J Martínez-Villarreal… - Journal of Biological …, 2012 - Elsevier
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although …

[PDF][PDF] A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

C Giménez, G Pérez-Siles… - THE JOURNAL OF …, 2012 - core.ac.uk
Background: Hyperekplexia or startle disease is caused by defects in glycinergic
transmission. Results: A new mutation pY705C in the glycine transporter GlyT2 alters protein …

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

C Giménez, G Pérez-Siles… - Journal of …, 2012 - research.usc.edu.au
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although …