OBO ID: DOID:0050539

Citations

(5 total)

Term: Charcot-Marie-Tooth disease type 2

Chen, X., Liu, F., Chen, K., Wang, Y., Yin, A., Kang, X., Yang, S., Zhao, H., Dong, S., Li, Y., Chen, J., Wu, Y. (2022) TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. CNS neuroscience & therapeutics. 28(12):2076-2089

Weterman, M.A.J., Kuo, M., Kenter, S.B., Gordillo, S., Karjosukarso, D.W., Takase, R., Bronk, M., Oprescu, S., Ruissen, F., Witteveen, R.J.W., Bienfait, H.M.E., Breuning, M., Verhamme, C., Hou, Y.M., Visser, M., Antonellis, A., Baas, F. (2018) Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Human molecular genetics. 27(23):4036-4050

Malissovas, N., Griffin, L.B., Antonellis, A., Beis, D. (2016) Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Human molecular genetics. 25:1528-42

Ponomareva, O.Y., Eliceiri, K.W., Halloran, M.C. (2016) Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development. Neural Development. 11:2

Vettori, A., Bergamin, G., Moro, E., Vazza, G., Polo, G., Tiso, N., Argenton, F., and Mostacciuolo, M.L. (2011) Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: A new model for Charcot-Marie-Tooth type 2A neuropathy. Neuromuscular disorders : NMD. 21(1):58-67