31. GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders. (10th April 2015) Authors: Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman‐Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Ka... Journal: Epilepsia Issue: Volume 56:issue 6(2015:Jun.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
32. GRIN2D variants in three cases of developmental and epileptic encephalopathy. Issue 6 (14th November 2018) Authors: Tsuchida, Naomi; Hamada, Keisuke; Shiina, Masaaki; Kato, Mitsuhiro; Kobayashi, Yu; Tohyama, Jun; Kimura, Kazue; Hoshino, Kyoko; Ganesan, Vigneswari; Teik, Keng W.; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Miyat... Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 538 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
33. In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. Issue 1 (December 2016) Authors: Bamba, Yohei; Shofuda, Tomoko; Kato, Mitsuhiro; Pooh, Ritsuko; Tateishi, Yoko; Takanashi, Jun-ichi; Utsunomiya, Hidetsuna; Sumida, Miho; Kanematsu, Daisuke; Suemizu, Hiroshi; Higuchi, Yuichiro; Akamatsu, Wado; Gallagher, Denis; Miller, Freda; Yamasaki, Mami; Kanemura, Yonehiro; Okano, Hideyuki Journal: Molecular brain Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
34. Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. Issue 3 (6th February 2014) Authors: Leventer, Richard J.; Jansen, Floor E.; Mandelstam, Simone A.; Ho, Alice; Mohamed, Ismail; Sarnat, Harvey B.; Kato, Mitsuhiro; Fukasawa, Tatsuya; Saitsu, Hirotomo; Matsumoto, Naomichi; Itoh, Masayuki; Kalnins, Renate M.; Chow, Chung W.; Harvey, A. Simon; Jackson, Graeme D.; Crino, Peter B.; Berko... Journal: Epilepsia Issue: Volume 55:Issue 3(2014:Mar.) Page Start: e22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
35. Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy. Issue 4 (25th August 2022) Authors: Kishimoto, Kanako; Nabatame, Shin; Kagitani‐Shimono, Kuriko; Kato, Mitsuhiro; Tohyama, Jun; Nakashima, Mitsuko; Matsumoto, Naomichi; Ozono, Keiichi Journal: Epileptic disorders Issue: Volume 24:Issue 4(2022) Page Start: 726 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
36. Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models. Issue 9 (19th February 2021) Authors: Kandasamy, Lenin C; Tsukamoto, Mina; Banov, Vitaliy; Tsetsegee, Sambuu; Nagasawa, Yutaro; Kato, Mitsuhiro; Matsumoto, Naomichi; Takeda, Junji; Itohara, Shigeyoshi; Ogawa, Sonoko; Young, Larry J; Zhang, Qi Journal: Human molecular genetics Issue: Volume 30:Issue 9(2021) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
37. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. (8th February 2018) Authors: Mizuguchi, Takeshi; Nakashima, Mitsuko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Kurahashi, Hirokazu; Ekhilevitch, Nina; Shiina, Masaaki; Nishimura, Gen; Shibata, Takashi; Matsuo, Muneaki; Ikeda, Tae; Ogata, Kazuhiro; Tsuchida, Naomi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Nori... Journal: Human molecular genetics Issue: Volume 27:Number 8(2018:Apr. 15) Page Start: 1421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
38. Low‐prevalence mosaicism of chromosome 18q distal deletion identified by exome‐based copy number profiling in a child with cerebral hypomyelination. (29th July 2019) Authors: Shiohama, Tadashi; Nakashima, Mitsuko; Ikehara, Hajime; Kato, Mitsuhiro; Saitsu, Hirotomo Journal: Congenital anomalies Issue: Volume 60:Number 3(2020) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
39. Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human iPSC model for STXBP1‐related epileptic encephalopathy. (25th February 2016) Authors: Yamashita, Satoshi; Chiyonobu, Tomohiro; Yoshida, Michiko; Maeda, Hiroshi; Zuiki, Masashi; Kidowaki, Satoshi; Isoda, Kenichi; Morimoto, Masafumi; Kato, Mitsuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Nakahata, Tatsutoshi; Saito, Megumu K.; Hosoi, Hajime Journal: Epilepsia Issue: Volume 57:issue 4(2016) Page Start: e81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
40. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Issue 9 (2nd August 2013) Authors: Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun‐Ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi... Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗