A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

Dynamic transcriptional events in distal sural nerve revealed by transcriptome analysis.

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Application of variant calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot–Marie–Tooth disease.

Proximal lower-limb weakness in charcot-marie-tooth disease.

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-Tooth disease.

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Frequency of causative genes in Korean hereditary peripheral neuropathy patients.