Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A et al.
Molecular Syndromology, 2023
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
Shimojima K et al.
Journal of the Neurological Sciences, 2013
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