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
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E et al.
Molecular Genetics and Metabolism, 2011
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.
Sartori S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2008
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
Salviati L et al.
Neurogenetics, 2007
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