Disease: Charcot-Marie-Tooth disease- dominant intermediate 1
- A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction
- A Novel Mutation in the Stalk Domain of <em>KIF5A</em> Causes a Slowly Progressive Atypical Motor Syndrome
- A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L
- Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy
- Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with <em>GDAP1</em> Mutations
- Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
- GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
- Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Longitudinal 16-year study of dominant intermediate CMT type C neuropathy
- NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors
- Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons
- Neurofilaments in health and Charcot-Marie-Tooth disease
- Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease
- Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal?
- Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
- The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study