Associated Papers
Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.
Nakamura H et al.
Bmc Neurology, 2024
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
Yuan JH et al.
European Journal of Neurology, 2018
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu L et al.
Clinical Genetics, 2017
Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Kyriakoudi S et al.
Human Molecular Genetics, 2017
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.
Olympiou M et al.
Acta Neuropathologica Communications, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report.
Zhao Y et al.
Bmc Neurology, 2014
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa KA et al.
Brain Research, 2012
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
Stancanelli C et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
The role of gap junctions in Charcot-Marie-Tooth disease.
Kleopa KA
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Miltenberger-Miltenyi G et al.
European Journal of Human Genetics : Ejhg, 2009
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
Taylor RA et al.
Neurology, 2003
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002