Last Updated: 09/26/2026
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Found 115 publications
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
Journal: medRxiv : the preprint server for health sciences
Published: July 02, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
Journal: medRxiv : the preprint server for health sciences
Published: July 02, 2026
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
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
Journal: Annals of neurology
Published: August 25, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.
Journal: medRxiv : the preprint server for health sciences
Published: May 09, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Journal: Brain : a journal of neurology
Published: March 25, 2025
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Journal: European journal of neurology
Published: October 28, 2024
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
Journal: Neurology
Published: August 12, 2024
Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.
Journal: Journal of the peripheral nervous system : JPNS
Published: June 23, 2024
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Journal: Brain : a journal of neurology
Published: June 08, 2024
Comparison of intraepidermal nerve fiber density and confocal corneal microscopy for neuropathy.
Journal: Annals of clinical and translational neurology
Published: May 29, 2024
Last Updated: 09/26/2026