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
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
Biancheri R et al.
European Journal of Human Genetics : Ejhg, 2013
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E et al.
Molecular Genetics and Metabolism, 2011
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Diekmann S et al.
European Journal of Human Genetics : Ejhg, 2010
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