Disease: Charcot-Marie-Tooth disease- Type 4C
- <em>SH3TC2</em>-Related Hereditary Motor and Sensory Neuropathy
- A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy
- AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C
- Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature
- Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
- Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
- Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry
- Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients
- Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C
- Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
- Gene therapy approaches targeting Schwann cells for demyelinating neuropathies
- Genetic Landscape of <em>SH3TC2</em> variants in Russian patients with Charcot-Marie-Tooth disease
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <em>MTMR2</em> Mutations and Implications in Membrane Trafficking
- Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene
- Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman
- Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum
- Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C
- Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
- Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease
- Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients
- The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C