Associated Papers
Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
Falsaperla R et al.
Journal of Child Neurology, 2024
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B et al.
Neurochemistry International, 2019
Clonal evolution in breast cancer revealed by single nucleus genome sequencing.
Wang Y et al.
Nature, 2014
25079324 (PubMed )
Supplement: NIHMS607979-supplement-1.pdf
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E et al.
The Journal of Biological Chemistry, 2012
Hyperekplexia: treatment of a severe phenotype and review of the literature.
Mineyko A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011
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