Associated Papers
Intrathecal gene therapy in mouse models expressing CMT1X mutations.
Kagiava A et al.
Human Molecular Genetics, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Kyriakoudi S et al.
Human Molecular Genetics, 2017
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
Yang JJ et al.
Audiology & Neuro-otology, 2007
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Casasnovas C et al.
Clinical Genetics, 2006
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
Lai A et al.
Journal of Cell Science, 2006
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).
Ekici AB et al.
Neurogenetics, 2000
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