Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination
