Charcot-Marie-Tooth Disease (CMT): Types 4B2, 4B3 (CMT4B3)
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1423-1
Reference26 articles.
1. Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS (2014) Set binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth Disease Type 4B3. Neurology 82:1665–1666
2. Bolino A, Piguet F, Alberizzi V, Pellegatta M, Rivellini C, Guerrero-Valero M, Noseda R, Brombin C, Nonis A, D’Adamo P, Taveggia C, Previtali SC (2016) Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. EMBO Mol Med 8:1438–1454
3. Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nisticò R, Senderek J, Quattrone A (2004) A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). Neurology 63(7):1327–1328
4. Flusser H, Halperin D, Kadir R, Shorer Z, Shelef I, Birk OS (2018) Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease. Clin Genet 94(5):473–479
5. Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A (1999) Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Ann N Y Acad Sci 883(1):47–55
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