1. 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) ↗
2. 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) ↗
3. ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children. (7th September 2020) Authors: Sasaki, Masayuki; Sumitomo, Noriko; Shimizu‐Motohashi, Yuko; Takeshita, Eri; Kurosawa, Kenji; Kosaki, Kenjiro; Iwama, Kazuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi Journal: Developmental medicine & child neurology Issue: Volume 63:Number 1(2021) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. Issue 1 (December 2016) Authors: Shimizu, Reiko; Ogata, Katsuhisa; Tamaura, Akemi; Kimura, En; Ohata, Maki; Takeshita, Eri; Nakamura, Harumasa; Takeda, Shin'ichi; Komaki, Hirofumi Journal: BMC health services research Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Computer Aided Diagnosis of Early Esophageal Cancer From Endoscopic Image by Using Wavelet Transform and Fractal Dimension: 405. (October 2017) Authors: Sakata, Yasuhisa; Sakata, Natsuko; Shimoda, Ryo; Miyahara, Koichi; Tominaga, Naoyuki; Morisaki, Tomohito; Takeshita, Eri; Fujimoto, Kazuma Journal: American journal of gastroenterology Issue: Volume 112(2017)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency. Issue 2 (2nd July 2019) Authors: Inoue, Michio; Uchino, Shumpei; Iida, Aritoshi; Noguchi, Satoru; Hayashi, Shinichiro; Takahashi, Tsutomu; Fujii, Katsunori; Komaki, Hirofumi; Takeshita, Eri; Nonaka, Ikuya; Okada, Yukinori; Yoshizawa, Takuya; Van Lommel, Leentje; Schuit, Frans; Goto, Yu‐ichi; Mimaki, Masakazu; Nishino, Ichizo Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Disruption of the Photoreceptor Inner Segment–Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome. (2nd January 2017) Authors: Baba, Shimpei; Takeshita, Eri; Yamazaki, Hiroko; Tarashima, Mikako; Sasaki, Masayuki Journal: Neuro-ophthalmology Issue: Volume 41:Number 1(2017) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗