1. 15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA). Issue 12 (14th November 2019) Authors: Strauss, Kevin A; Swoboda, Kathryn J; Farrar, Michelle A; McMillan, Hugh J; Parsons, Julie; Krueger, Jena M; Iannaccone, Susan T; Chiriboga, Claudia A; Kwon, Jennifer M; Saito, Kayoko; Scoto, Mariacristina; Kausar, Imran; Schultz, Meredith; Kernbauer, Elaine; Farrow, Marcia; Ogrinc, Francis G; Ka... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Study of valproic acid for patients with spinal muscular atrophy. Issue 2 (25th November 2014) Authors: Saito, Toshio; Nurputra, Dian K; Harahap, Nur Imma F; Harahap, Indra Sari K; Yamamoto, Hiroshi; Muneshige, Emi; Nishizono, Hiroaki; Matsumura, Tsuyoshi; Fujimura, Harutoshi; Sakoda, Saburo; Saito, Kayoko; Nishio, Hisahide Journal: Neurology and clinical neuroscience Issue: Volume 3:Issue 2(2015) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Association between SLCO1B1 rs4149056 and tegafur–uracil-induced hepatic dysfunction in breast cancer. (5th February 2019) Authors: Kamio, Hidenori; Uchiyama, Toshitaka; Kanno, Hitoshi; Onoe, Yoshiko; Saito, Kayoko; Kameoka, Shingo; Kamio, Takako; Okamoto, Takahiro Journal: Pharmacogenomics Issue: Volume 20:Number 5(2019) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Charcot‐marie‐tooth disease type 4C in Japan: Report of a case. Issue 2 (28th December 2012) Authors: Iguchi, Masahiro; Hashiguchi, Akihiro; Ito, Eiichi; Toda, Kunio; Urano, Mari; Shimizu, Yuko; Takeuchi, Chisen; Saito, Kayoko; Takashima, Hiroshi; Uchiyama, Shinichiro Journal: Muscle & nerve Issue: Volume 47:Issue 2(2013:Feb.) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Issue 7 (26th April 2013) Authors: Kato, Mitsuhiro; Yamagata, Takanori; Kubota, Masaya; Arai, Hiroshi; Yamashita, Sumimasa; Nakagawa, Taku; FujII, Takanari; Sugai, Kenji; Imai, Kaoru; Uster, Tami; Chitayat, David; Weiss, Shelly; Kashii, Hirofumi; Kusano, Ryosuke; Matsumoto, Ayumi; Nakamura, Kazuyuki; Oyazato, Yoshinobu; Maeno, Mar... Journal: Epilepsia Issue: Volume 54:Issue 7(2013:Jul.) Page Start: 1282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 5 (14th February 2014) Authors: Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnostic use of surface EMG in a patient with spinal muscular atrophy. Issue 1 (28th May 2015) Authors: Furukawa, Yuichi; Ogawa, Go; Hokkoku, Keiichi; Hatanaka, Yuki; Aoki, Ryoko; Saito, Kayoko; Sonoo, Masahiro Journal: Muscle & nerve Issue: Volume 52:Issue 1(2015:Jul.) Page Start: 153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 6 (12th August 2014) Authors: Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 1023 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. Issue 4 (20th July 2021) Authors: Kichula, Elizabeth A.; Proud, Crystal M.; Farrar, Michelle A.; Kwon, Jennifer M.; Saito, Kayoko; Desguerre, Isabelle; McMillan, Hugh J. Journal: Muscle & nerve Issue: Volume 64:Issue 4(2021) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial campomelic dysplasia due to maternal germinal mosaicism. (2nd April 2018) Authors: Higeta, Daisuke; Yamaguchi, Rie; Takagi, Takeshi; Nishimura, Gen; Sameshima, Kiyoko; Saito, Kayoko; Minegishi, Takashi Journal: Congenital anomalies Issue: Volume 58:Number 6(2018) Page Start: 194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗