Disease: Charcot-Marie-Tooth disease- dominant intermediate 3
- A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction
- A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy
- A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L
- Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model
- 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
- Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
- Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2
- Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease
- 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
- Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy
- The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease