Disease: Charcot-Marie-Tooth disease- Type 4E
- A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
- AAV1.NT-3 gene therapy increases muscle fiber diameter through activation of mTOR pathway and metabolic remodeling in a CMT mouse model
- Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse
- CNTNAP1-Related Congenital Hypomyelinating Neuropathy
- Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene
- Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion
- Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy
- Evolutionary analysis and biological characterization of a novel alphabaculovirus isolated from <em>Mythimna separata</em>
- Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy
- Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy
- Human iPSC-derived oligodendrocyte progenitor cells can myelinate and rescue a mouse model of congenital hypomyelination
- Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits
- Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy
- Novel FAM126A mutations in hypomyelination and congenital cataract disease
- Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy
- Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
- Postnatal glucocorticoid-induced hypomyelination, gliosis, and neurologic deficits are dose-dependent, preparation-specific, and reversible
- Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy