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Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
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Pharmacology & Therapeutics, 2021
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B et al.
Neurochemistry International, 2019
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.
Masri A et al.
Brain & Development, 2017
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E et al.
The Journal of Biological Chemistry, 2012
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