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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Among authors: kania a. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
Ephrin signalling in the developing nervous system.
Klein R, Kania A. Klein R, et al. Among authors: kania a. Curr Opin Neurobiol. 2014 Aug;27:16-24. doi: 10.1016/j.conb.2014.02.006. Epub 2014 Mar 7. Curr Opin Neurobiol. 2014. PMID: 24608162
Ephexin1 Is Required for Eph-Mediated Limb Trajectory of Spinal Motor Axons.
Chang CJ, Chang MY, Chou SY, Huang CC, Chuang JY, Hsu TI, Chang HF, Wu YH, Wu CC, Morales D, Kania A, Kao TJ. Chang CJ, et al. Among authors: kania a. J Neurosci. 2018 Feb 21;38(8):2043-2056. doi: 10.1523/JNEUROSCI.2257-17.2018. Epub 2018 Jan 23. J Neurosci. 2018. PMID: 29363583 Free PMC article.
245 results