Disease: Charcot-Marie-Tooth disease- Type 1E
- <em>PMP22</em> exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E
- A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E
- A neutral lipid-enriched diet improves myelination and alleviates peripheral nerve pathology in neuropathic mice
- Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene
- Curcumin and Ethanol Effects in Trembler-J Schwann Cell Culture
- Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype
- Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
- Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves
- Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation