Disease: Charcot-Marie-Tooth disease- Type 4A
- 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 double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A
- A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect
- A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation
- Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy
- Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
- Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family
- Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential
- Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
- Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes
- GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
- Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
- Homozygous Mutations in <em>GDAP1</em> and <em>MFN2</em> Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families
- Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
- Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1
- Novel compound heterozygous missense mutations in <em>GDAP1</em> cause Charcot-Marie-Tooth type 4A
- Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A
- Sport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer
- SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
- The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
- Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)