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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A et al.
Molecular Syndromology, 2023
A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.
Komachali SR et al.
Genomics & Informatics, 2022
Select a paper to view details