1. 1-A-D-12. Utility of quantitative and non-invasive surface EMG analysis for pediatric neuromuscular disorders. Issue 6 (June 2015) Authors: Higashihara, Mana; Sonoo, Masahiro; Ishiyama, Akihiko; Nagashima, Yu; Uesugi, Haruo; Yoshimura, Madoka Mori; Murata, Miho; Murayama, Shigeo; Komaki, Hirofumi Journal: Clinical neurophysiology Issue: Volume 126:Issue 6(2015:Jun.) Page Start: e54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 1-A-D-12. Utility of quantitative and non-invasive surface EMG analysis for pediatric neuromuscular disorders. Issue 6 (June 2015) Authors: Higashihara, Mana; Sonoo, Masahiro; Ishiyama, Akihiko; Nagashima, Yu; Uesugi, Haruo; Yoshimura, Madoka Mori; Murata, Miho; Murayama, Shigeo; Komaki, Hirofumi Journal: Clinical neurophysiology Issue: Volume 126:Issue 6(2015:Jun.) Page Start: e54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (25th February 2015) Authors: Okubo, Mariko; Fujita, Atsushi; Saito, Yoshiaki; Komaki, Hirofumi; Ishiyama, Akihiko; Takeshita, Eri; Kojima, Emiko; Koichihara, Reiko; Saito, Takashi; Nakagawa, Eiji; Sugai, Kenji; Yamazaki, Hiroko; Kusaka, Kei; Tanaka, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi; Sasaki, Masayuki Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A phase I study of TAS‐205 in patients with Duchenne muscular dystrophy. Issue 11 (10th October 2018) Authors: Takeshita, Eri; Komaki, Hirofumi; Shimizu‐Motohashi, Yuko; Ishiyama, Akihiko; Sasaki, Masayuki; Takeda, Shin'ichi Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 11(2018) Page Start: 1338 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey. Issue 10 (30th August 2019) Authors: Ono, Hiroya; Shimizu‐Motohashi, Yuko; Maruo, Kazushi; Takeshita, Eri; Ishiyama, Akihiko; Saito, Takashi; Komaki, Hirofumi; Nakagawa, Eiji; Sasaki, Masayuki Journal: Brain and behavior Issue: Volume 9:Issue 10(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses. Issue 1 (11th November 2020) Authors: Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Taka... Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. (October 2017) Authors: Ishiyama, Akihiko; Sakai, Chika; Matsushima, Yuichi; Noguchi, Satoru; Mitsuhashi, Satomi; Endo, Yukari; Hayashi, Yukiko K.; Saito, Yoshiaki; Nakagawa, Eiji; Komaki, Hirofumi; Sugai, Kenji; Sasaki, Masayuki; Sato, Noriko; Nonaka, Ikuya; Goto, Yu-ichi; Nishino, Ichizo Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Issue 3 (11th April 2021) Authors: Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, ... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Intractable epilepsy due to a rosette‐forming glioneuronal tumor with a dysembryoplastic neuroepithelial background. Issue 3 (18th December 2017) Authors: Sumitomo, Noriko; Ishiyama, Akihiko; Shibuya, Makoto; Nakagawa, Eiji; Kaneko, Yu; Takahashi, Akio; Otsuki, Taisuke; Kakita, Akiyoshi; Saito, Yuko; Sato, Noriko; Sugai, Kenji; Sasaki, Masayuki Journal: Neuropathology Issue: Volume 38:Issue 3(2018) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗