Last Updated: 09/26/2026
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Found 30 publications
Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.
Journal: Journal of the peripheral nervous system : JPNS
Published: May 08, 2026
Axonal dying back of upper motor neurons in human ALS.
Journal: Scientific reports
Published: February 09, 2026
Axonal dying back of upper motor neurons in human ALS.
Journal: Research square
Published: February 06, 2026
Cemdomespib Therapy Slows the Progression of Neuromuscular Weakness and Demyelination in the R75W-Connexin 32 Animal Model of Charcot-Marie-Tooth 1X Disease.
Journal: ACS pharmacology & translational science
Published: August 02, 2024
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.
Journal: The Journal of general physiology
Published: June 04, 2024
Assessment of blood-brain barrier leakage and brain oxygenation in Connexin-32 knockout mice with systemic neuroinflammation using pulse electron paramagnetic resonance imaging techniques.
Journal: Magnetic resonance in medicine
Published: August 11, 2023
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Journal: Biomolecules
Published: March 11, 2023
Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease.
Journal: ACS pharmacology & translational science
Published: November 14, 2022
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system.
Journal: Experimental neurology
Published: May 31, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Journal: Orphanet journal of rare diseases
Published: February 07, 2022
Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
Journal: Molecular and cellular neurosciences
Published: June 30, 2021
Last Updated: 09/26/2026