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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R. Smigiel R, et al. Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277. Hum Mol Genet. 2018. PMID: 30124836 Free PMC article.
Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer.
Sasiadek MM, Stembalska-Kozlowska A, Smigiel R, Ramsey D, Kayademir T, Blin N. Sasiadek MM, et al. Among authors: smigiel r. Br J Cancer. 2004 Apr 19;90(8):1594-9. doi: 10.1038/sj.bjc.6601679. Br J Cancer. 2004. PMID: 15083191 Free PMC article.
155 results