Associated Papers
Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
Falsaperla R et al.
Journal of Child Neurology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
Lee Y et al.
Journal of Movement Disorders, 2017
Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
Kang HC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
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