Disease: Charcot-Marie-Tooth disease- X-linked recessive- 3
- Capillary electrophoresis for the detection of PMP22 gene duplication: study in Mexican patients
- Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
- Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies
- Genetic and phenotypic variability of optic neuropathies
- Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease
- Identity-by-descent analysis of CMTX3 links three families through a common founder
- Inborn errors of copper metabolism
- 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
- Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
- Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
- Unique clinical and neurophysiologic profile of a cohort of children with CMTX3
- Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
- Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome