1. Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations12. Issue 1 (13th December 2012) Authors: Kakisaka, Yosuke; Haginoya, Kazuhiro; Takahashi, Yuko; Ochiai, Tatsuhiro; Fujiwara, Ikuma; Kikuchi, Atsuo; Wakusawa, Keisuke; Kobayashi, Satoru; Kikuchi, Hirosato; Ichihara, Yasuko; Takahashi, Shinichiro; Nishino, Ichizo Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal‐Sized Platelets. Issue 12 (14th July 2015) Authors: Ouchi‐Uchiyama, Meri; Sasahara, Yoji; Kikuchi, Atsuo; Goi, Kumiko; Nakane, Takaya; Ikeno, Mitsuru; Noguchi, Yasushi; Uike, Naokuni; Miyajima, Yuji; Matsubara, Kousaku; Koh, Katsuyoshi; Sugita, Kanji; Imaizumi, Masue; Kure, Shigeo Journal: Pediatric blood & cancer Issue: Volume 62:Issue 12(2015:Dec.) Page Start: 2082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome. (24th December 2019) Authors: Niitsuma, Sou; Kudo, Hiroki; Kikuchi, Atsuo; Hayashi, Takaya; Kumakura, Satoshi; Kobayashi, Shuhei; Okuyama, Yuko; Kumagai, Naonori; Niihori, Tetsuya; Aoki, Yoko; So, Takanori; Funayama, Ryo; Nakayama, Keiko; Shirota, Matsuyuki; Kondo, Shuji; Kagami, Shoji; Tsukaguchi, Hiroyasu; Iijima, Kazumoto;... Journal: International immunology Issue: Volume 32:Number 4(2020) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Correspondence on "Clinical Characterization of Gastroenteritis-Related Seizures in Children: Impact of Fever and Serum Sodium Levels". (November 2014) Authors: Kakisaka, Yosuke; Kikuchi, Atsuo; Hino-Fukuyo, Naomi; Uematsu, Mitsugu; Kure, Shigeo Journal: Journal of child neurology Issue: Volume 29:Number 11(2014:Nov.) Page Start: 1578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. (9th July 2020) Authors: Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathi... Journal: Epilepsia Issue: Volume 61:issue 7(2020) Page Start: e71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dysregulation of Rnf 213 gene contributes to T cell response via antigen uptake, processing, and presentation. Issue 11 (10th May 2021) Authors: Tashiro, Ryosuke; Niizuma, Kuniyasu; Kasamatsu, Jun; Okuyama, Yuko; Rashad, Sherif; Kikuchi, Atsuo; Fujimura, Miki; Kure, Shigeo; Ishii, Naoto; Tominaga, Teiji Journal: Journal of cellular physiology Issue: Volume 236:Issue 11(2021) Page Start: 7554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis. Issue 2 (15th February 2019) Authors: Sasaki, Kunihiro; Ito, Yoshinobu; Kawame, Hiroshi; Kikuchi, Atsuo; Tanaka, Hiroshi Journal: Pediatrics international Issue: Volume 61:Issue 2(2019) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genomic analysis identifies masqueraders of full‐term cerebral palsy. Issue 5 (26th March 2018) Authors: Takezawa, Yusuke; Kikuchi, Atsuo; Haginoya, Kazuhiro; Niihori, Tetsuya; Numata‐Uematsu, Yurika; Inui, Takehiko; Yamamura‐Suzuki, Saeko; Miyabayashi, Takuya; Anzai, Mai; Suzuki‐Muromoto, Sato; Okubo, Yukimune; Endo, Wakaba; Togashi, Noriko; Kobayashi, Yasuko; Onuma, Akira; Funayama, Ryo; Shirota, ... Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 5(2018) Page Start: 538 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age. Issue 4 (22nd April 2021) Authors: Arai‐Ichinoi, Natsuko; Kikuchi, Atsuo; Wada, Yoichi; Sakamoto, Osamu; Kure, Shigeo Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗