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CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. Liang JS, et al. Among authors: shimojima k. Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770923 Free article.
Pelizaeus-Merzbacher disease as a chromosomal disorder.
Yamamoto T, Shimojima K. Yamamoto T, et al. Among authors: shimojima k. Congenit Anom (Kyoto). 2013 Mar;53(1):3-8. doi: 10.1111/cga.12005. Congenit Anom (Kyoto). 2013. PMID: 23480352 Review.
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.
Shimojima K, Komoike Y, Tohyama J, Takahashi S, Páez MT, Nakagawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T. Shimojima K, et al. Genomics. 2009 Dec;94(6):414-22. doi: 10.1016/j.ygeno.2009.08.015. Epub 2009 Sep 3. Genomics. 2009. PMID: 19733229 Free article.
141 results