Mild encephalopathy with reversible lesions in the splenium of corpus callosum and bilateral cerebral deep white matter in identical twins

by Junko Tahara, Jun Shinozuka, Hitoshi Awaguni, Shin-ichiro Tanaka, Shigeru Makino, Rikken Maruyama, Shinsaku Imashuku
Published 2016-09-01

Antagonistic and cooperative actions of Kif7 and Sufu define graded intracellular Gli activities in Hedgehog signaling.

by Kelvin King Lo Law, Shigeru Makino, Rong Mo, Xiaoyun Zhang, Vijitha Puviindran, Chi-Chung Hui
Published 2012-01-01

Neonatal Sweet’s syndrome associated with rectovestibular fistula with normal anus

by Jun Shinozuka, Hideki Tomiyama, Shin-ichiro Tanak, Junko Tahara, Hitoshi Awaguni, Shigeru Makino, Rikken Maruyama, Shinsaku Imashuku
Published 2015-06-01

Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

by Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, Shinsaku Imashuku
Published 2014-01-01

Corrigendum to “Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene”

by Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, Shinsaku Imashuku
Published 2015-01-01

Acute encephalopathy with biphasic seizures and late reduced diffusion associated with Streptococcus sanguinis sepsis

by Hitoshi Awaguni, Jun Shinozuka, Shin-ichiro Tanaka, Sayaka Kadowaki, Shigeru Makino, Rikken Maruyama, Yosuke Shigematsu, Kenji Hamaoka, Shinsaku Imashuku
Published 2018-03-01

T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.

by Shigeru Makino, Olena Zhulyn, Rong Mo, Vijitha Puviindran, Xiaoyun Zhang, Takuya Murata, Ryutaro Fukumura, Yuichi Ishitsuka, Hayato Kotaki, Daisuke Matsumaru, Shunsuke Ishii, Chi-Chung Hui, Yoichi Gondo
Published 2015-01-01