Associated Papers
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Van Lent J et al.
Brain : a Journal of Neurology, 2023
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
Liu X et al.
Frontiers in Neurology, 2020
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 2012
[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].
Reggio A et al.
Acta Neurologica, 1981
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