Associated Papers
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
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B et al.
Neurochemistry International, 2019
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Thomas RH et al.
Brain : a Journal of Neurology, 2013
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E et al.
The Journal of Biological Chemistry, 2012
Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.
James VM et al.
Biological Chemistry, 2012
A critical role for glycine transporters in hyperexcitability disorders.
Harvey RJ et al.
Frontiers in Molecular Neuroscience, 2008
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI et al.
Nature Genetics, 2006
[Molecular bases of hereditary hyperekplexia].
Giménez C et al.
Revista De Neurologia, 0
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