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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Abrams CK et al.
Scientific Reports, 2017
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
Phenotype expression in women with CMT1X.
Siskind CE et al.
Journal of the Peripheral Nervous System : Jpns, 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
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.
Kennerson ML et al.
Clinical Chemistry, 2007
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