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
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M et al.
Molecular Biology Reports, 2019
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E et al.
Molecular Genetics and Metabolism, 2011
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg B et al.
American Journal of Human Genetics, 2004
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