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
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Hertzog N et al.
Neural Regeneration Research, 2023
Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.
Tadenev ALD et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Charcot-Marie-Tooth neuropathies: Current gene therapy advances and the route toward translation.
Stavrou M et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
Kagiava A et al.
Gene Therapy, 2021
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Tian D et al.
Annals of Clinical and Translational Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
The role of oligodendrocyte gap junctions in neuroinflammation.
Papaneophytou C et al.
Channels (austin, Tex.), 2019
Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G et al.
Clinical Neurology and Neurosurgery, 2019
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
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 2017
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorefice L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Lu YY et al.
Chinese Medical Journal, 2017
Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Kyriakoudi S et al.
Human Molecular Genetics, 2017
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Abrams CK et al.
Scientific Reports, 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
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32.
Brennan MJ et al.
The Journal of Biological Chemistry, 2015
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
Sargiannidou I et al.
Neurogenetics, 2015
Connexins, gap junctions and peripheral neuropathy.
Kleopa KA et al.
Neuroscience Letters, 2015
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.
Abrams CK et al.
Cell and Tissue Research, 2015
CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors.
Mones S et al.
Orphanet Journal of Rare Diseases, 2015
[Animal models of Charcot-Marie-Tooth disease and their relevance for understanding the disease in humans].
Bouhy D et al.
Revue Neurologique, 2013
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.
Bouhy D et al.
Annals of Neurology, 2013
Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
Pareyson D et al.
Handbook of Clinical Neurology, 2013
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa KA et al.
Brain Research, 2012
X-linked Charcot-Marie-Tooth disease.
Scherer SS 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
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 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
Molecular mechanisms of gap junction mutations in myelinating cells.
Sargiannidou I et al.
Histology and Histopathology, 2010
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
Persistent CNS dysfunction in a boy with CMT1X.
Siskind C et al.
Journal of the Neurological Sciences, 2009
Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
Sargiannidou I et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
Mandich P et al.
Journal of Human Genetics, 2008
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
Basri R et al.
Internal Medicine (tokyo, Japan), 2007
Animal models of inherited neuropathies.
Meyer Zu Hörste G et al.
Current Opinion in Neurology, 2006
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Jeng LJ et al.
Molecular and Cellular Neurosciences, 2006
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.
Dupré N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
Huang Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005