Disease: Charcot-Marie-Tooth disease- X-linked recessive- 2
- A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood
- Capillary electrophoresis for the detection of PMP22 gene duplication: study in Mexican patients
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics
- Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
- Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes
- Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes
- 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
- Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
- Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
- Unique clinical and neurophysiologic profile of a cohort of children with CMTX3