Associated Papers
Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice.
Shen Z et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2023
C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
Huang C et al.
Human Molecular Genetics, 2020
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Sun SC et al.
Brain : a Journal of Neurology, 2019
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