Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
Sargiannidou I et al.
Neurogenetics, 2015
Molecular mechanisms of gap junction mutations in myelinating cells.
Sargiannidou I et al.
Histology and Histopathology, 2010
Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Nicolaou P et al.
Neuroepidemiology, 2010
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Kleopa KA et al.
Neurology, 2006
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