Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB et al.
Journal of the Peripheral Nervous System : Jpns, 2024
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Tian D et al.
Annals of Clinical and Translational Neurology, 2021
Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis.
Boso F et al.
Brain Sciences, 2020
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.
Wen Q et al.
Frontiers in Neurology, 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
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Lee M et al.
Annals of Neurology, 2017
Clinical and biophysical characterization of 19 GJB1 mutations.
Tsai PC et al.
Annals of Clinical and Translational Neurology, 2016
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
Sargiannidou I et al.
Neurogenetics, 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
Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness.
Kim GH et al.
Pediatrics, 2014
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