Disease: Charcot-Marie-Tooth disease- dominant intermediate 2
- A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction
- A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report
- 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
- Acquired Expression of Mutant <em>Mitofusin 2</em> Causes Progressive Neurodegeneration and Abnormal Behavior
- Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy
- 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
- Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2
- Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy
- Mutations in C1orf194, encoding a calcium regulator, cause dominant 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
- The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease
- Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy