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Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D'Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A. Vaccari I, et al. Hum Mol Genet. 2015 Jan 15;24(2):383-96. doi: 10.1093/hmg/ddu451. Epub 2014 Sep 3. Hum Mol Genet. 2015. PMID: 25187576 Free PMC article.
Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot-Marie-Tooth type 1B mouse model.
Scapin C, Ferri C, Pettinato E, Zambroni D, Bianchi F, Del Carro U, Belin S, Caruso D, Mitro N, Pellegatta M, Taveggia C, Schwab MH, Nave KA, Feltri ML, Wrabetz L, D'Antonio M. Scapin C, et al. Hum Mol Genet. 2019 Mar 15;28(6):992-1006. doi: 10.1093/hmg/ddy411. Hum Mol Genet. 2019. PMID: 30481294 Free PMC article.
201 results