Associated Papers
Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
Falsaperla R et al.
Journal of Child Neurology, 2024
Startle Disease: New Molecular Insights into an Old Neurological Disorder.
Schaefer N et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS et al.
Cold Spring Harbor Molecular Case Studies, 2019
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