Disease: Charcot-Marie-Tooth disease- Type 2K
- A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
- A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
- A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation
- Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients
- Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with <em>GDAP1</em> Mutations
- Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies
- GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
- Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
- Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
- Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
- Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency
- Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
- Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1