1. De novo GABRA1 mutations in Ohtahara and West syndromes. (25th February 2016) Authors: Kodera, Hirofumi; Ohba, Chihiro; Kato, Mitsuhiro; Maeda, Toshiyuki; Araki, Kaoru; Tajima, Daisuke; Matsuo, Muneaki; Hino‐Fukuyo, Naomi; Kohashi, Kosuke; Ishiyama, Akihiko; Takeshita, Saoko; Motoi, Hirotaka; Kitamura, Taro; Kikuchi, Atsuo; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; ... Journal: Epilepsia Issue: Volume 57:issue 4(2016) Page Start: 566 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo KCNT1 mutations in early‐onset epileptic encephalopathy. (3rd July 2015) Authors: Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Nobuya; Osaka, Hitoshi; Shiihara, Takashi; Tohyama, Jun; Nabatame, Shin; Azuma, Junji; Fujii, Yuji; Hara, Munetsugu; Tsurusawa, Reimi; Inoue, Takahito; Ogata, Reina; Watanabe, Yoriko; Togashi, Noriko; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yosh... Journal: Epilepsia Issue: Volume 56:issue 9(2015:Sep.) Page Start: e121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient. (30th April 2015) Authors: Hara, Munetsugu; Ohba, Chihiro; Yamashita, Yushiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Matsuishi, Toyojiro Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. Issue 3 (29th January 2018) Authors: Akita, Tenpei; Aoto, Kazushi; Kato, Mitsuhiro; Shiina, Masaaki; Mutoh, Hiroki; Nakashima, Mitsuko; Kuki, Ichiro; Okazaki, Shin; Magara, Shinichi; Shiihara, Takashi; Yokochi, Kenji; Aiba, Kaori; Tohyama, Jun; Ohba, Chihiro; Miyatake, Satoko; Miyake, Noriko; Ogata, Kazuhiro; Fukuda, Atsuo; Matsumot... Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 3(2018) Page Start: 280 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Issue 7 (2nd June 2014) Authors: Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Satoru; Lerman‐Sagie, Tally; Lev, Dorit; Terashima, Hiroshi; Kubota, Masaya; Kawawaki, Hisashi; Matsufuji, Mayumi; Kojima, Yasuko; Tateno, Akihiko; Goldberg‐Stern, Hadassa; Straussberg, Rachel; Marom, Dafna; Leshinsky‐Silver, Esther; Nakashima, Mitsuko; ... Journal: Epilepsia Issue: Volume 55:Issue 7(2014:Jul.) Page Start: 994 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Issue 6 (6th March 2019) Authors: Iwama, Kazuhiro; Mizuguchi, Takeshi; Takeshita, Eri; Nakagawa, Eiji; Okazaki, Tetsuya; Nomura, Yoshiko; Iijima, Yoshitaka; Kajiura, Ichiro; Sugai, Kenji; Saito, Takashi; Sasaki, Masayuki; Yuge, Kotaro; Saikusa, Tomoko; Okamoto, Nobuhiko; Takahashi, Satoru; Amamoto, Masano; Tomita, Ichiro; Kumada,... Journal: Journal of medical genetics Issue: Volume 56:Issue 6(2019) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy. Issue 7 (20th May 2019) Authors: Fukada, Masahide; Yamada, Keitaro; Eda, Shima; Inoue, Ken; Ohba, Chihiro; Matsumoto, Naomichi; Saitsu, Hirotomo; Nakayama, Atsuo Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Macromol. Rapid Commun. 6/2015. Issue 6 (March 2015) Authors: Shiraki, Yusuke; Tsuruta, Kazuhiro; Morimoto, Junpei; Ohba, Chihiro; Kawamura, Akifumi; Yoshida, Ryo; Kawano, Ryuji; Uragami, Tadashi; Miyata, Takashi Journal: Macromolecular rapid communications Issue: Volume 36:Issue 6(2015:Mar.) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Preparation of Molecule‐Responsive Microsized Hydrogels via Photopolymerization for Smart Microchannel Microvalves. Issue 6 (26th January 2015) Authors: Shiraki, Yusuke; Tsuruta, Kazuhiro; Morimoto, Junpei; Ohba, Chihiro; Kawamura, Akifumi; Yoshida, Ryo; Kawano, Ryuji; Uragami, Tadashi; Miyata, Takashi Journal: Macromolecular rapid communications Issue: Volume 36:Issue 6(2015:Mar.) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗