Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, ran... von Nakajima, Takashi, Sankai, Yoshiyuki, Takata, Shinjiro, Kobayashi, Yoko, Ando, Yoshihito, Nakagawa, Masanori, Saito, Toshio, Saito, Kayoko, Ishida, Chiho, Tamaoka, Akira, Saotome, Takako, Ikai, Tetsuo, Endo, Hisako, Ishii, Kazuhiro, Morita, Mitsuya, Maeno, Takashi, Komai, Kiyonobu, Ikeda, Tetsuhiko, Ishikawa, Yuka, Maeshima, Shinichiro, Aoki, Masashi, Ito, Michiya, Mima, Tatsuya, Miura, Toshihiko, Matsuda, Jun, Kawaguchi, Yumiko, Hayashi, Tomohiro, Shingu, Masahiro, Kawamoto, Hiroaki

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Epidemiological investigation of spinal muscular atrophy in Japan von Ito, Mayuri, Yamauchi, Akemi, Urano, Mari, Kato, Tamaki, Matsuo, Mari, Nakashima, Kenji, Saito, Kayoko

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A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing von Kubo, Yuji, Nishio, Hisahide, Saito, Kayoko

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation von 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, Mari, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saito, Kayoko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo

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A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein von Otsuki, Noriko, Arakawa, Reiko, Kaneko, Kaori, Aoki, Ryoko, Arakawa, Masayuki, Saito, Kayoko

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Analysis of spinal muscular atrophy-like patients by targeted resequencing von Hosokawa, Shinichi, Kubo, Yuji, Arakawa, Reiko, Takashima, Hiroshi, Saito, Kayoko

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An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium von Kato, Tamaki, Urano, Mari, Matsuo, Mari, Saito, Kayoko

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Psychogenic seizures in a child with infantile convulsions and choreoathetosis von Shimomura, Rina, Ito, Susumu, Kurotaki, Naohiro, Saito, Kayoko, Nagata, Satoru

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Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients von Kaneko, Kaori, Arakawa, Reiko, Urano, Mari, Aoki, Ryoko, Saito, Kayoko

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Effective Valproic Acid Treatment in Motor Function Is Caused by Possible Mechanism of Elevated Survival Motor Neuron Protein Related With Splicing Factor Gene Expression in Spinal... von Takano, Kozue, Uchiyama, Toshitaka, Otsuki, Noriko, Nishio, Hisahide, Kubo, Yuji, Arakawa, Reiko, Saito, Toshio, Takeshima, Yasuhiro, Yuge, Kotaro, Ikeda, Toshio, Kato, Zenichiro, Nakajima, Takashi, Saito, Kayoko

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Precision cancer genome testing needs proficiency testing involving all stakeholders von Maekawa, Masato, Taniguchi, Terumi, Nishio, Kazuto, Sakai, Kazuko, Matsushita, Kazuyuki, Nakatani, Kaname, Ishige, Takayuki, Ikejiri, Makoto, Nishihara, Hiroshi, Sunami, Kuniko, Yatabe, Yasushi, Hatanaka, Kanako C., Hatanaka, Yutaka, Yamamoto, Yoshihiro, Fukuyama, Keita, Oda, Shinya, Saito, Kayoko, Yokomura, Mamoru, Kubo, Yuji, Sato, Hiroko, Tanaka, Yoshinori, Fuchioka, Misa, Yamasaki, Tadashi, Matsuda, Koichiro, Kurachi, Kiyotaka, Funai, Kazuhiro, Baba, Satoshi, Iwaizumi, Moriya

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Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders von Kitamura, Yuri, Kondo, Eri, Urano, Mari, Aoki, Ryoko, Saito, Kayoko

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Syneresis‐Driven Self‐Refilling Printing of Geometry/Component‐Controlled Nano/Microstructures von Shiba, Kota, Saito, Kayoko, Minami, Kosuke, Arai, Shunto, Yoshikawa, Genki, Sun, Luyi, Tenjimbayashi, Mizuki

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Phenotypes of SMA patients retaining SMN1 with intragenic mutation von Wijaya, Yogik Onky Silvana, Ar Rohmah, Mawaddah, Niba, Emma Tabe Eko, Morisada, Naoya, Noguchi, Yoriko, Hidaka, Yasufumi, Ozasa, Shiro, Inoue, Takeshi, Shimazu, Tomoyuki, Takahashi, Yuya, Tozawa, Takenori, Chiyonobu, Tomohiro, Inoue, Takushi, Shiroshita, Tomoyoshi, Yokoyama, Atsushi, Okamoto, Kentaro, Awano, Hiroyuki, Takeshima, Yasuhiro, Saito, Toshio, Saito, Kayoko, Nishio, Hisahide, Shinohara, Masakazu

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Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals von Ishizaki, Yuko, Matsuo, Mari, Saito, Kayoko, Fujihira, Yoko

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Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan von Okamoto, Kentaro, Fukuda, Mitsumasa, Saito, Isao, Urate, Risako, Maniwa, Satoshi, Usui, Daisuke, Motoki, Takahiro, Jogamoto, Toshihiro, Aibara, Kaori, Hosokawa, Takatoshi, Konishi, Yukihiko, Arakawa, Reiko, Mori, Kenji, Ishii, Eiichi, Saito, Kayoko, Nishio, Hisahide

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Replication stress increases mitochondrial metabolism and mitophagy in FANCD2 deficient fetal liver hematopoietic stem cells von Mochizuki-Kashio, Makiko, Otsuki, Noriko, Fujiki, Kota, Abdelhamd, Sherif, Kurre, Peter, Grompe, Markus, Iwama, Atsushi, Saito, Kayoko, Nakamura-Ishizu, Ayako

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Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study von Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-BeÅdziÅska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S, Darras, Basil T, Alberti, Katia, Baranello, Giovanni, Barisic, Nina, Brolatti, Noemi, Bruno, Claudio, Deconinck, Nicolas, Vos, Elke, De Waele, Liesbeth, Dosi, Claudia, Engelbrekt, Amanda, Goemans, Nathalie, Govoni, Alessandra, Haginoya, Kazuhiro, Kotulska-Jozwiak, Katarzyna, Goff, Laure Le, Levine, Alexis, Manel, Saidi, Mastella, Chiara, Mauri, Eleonora, Meneri, Megi, Moroni, Isabella, Pierzchlewicz, Katarzyna, Portefaix, Aurelie, Prufer, Alexandra, Rauso, Myriam, Schembri, Veronica, Sicolo, Mariangela, Tahon, Valentine, Tomas, Josipa, Vincent-Genod, Dominique, Vuillerot, Carole, Yotsumata, Kazuyuki

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Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses von Ishiura, Hiroyuki, Takahashi, Yuji, Hayashi, Toshihiro, Saito, Kayoko, Furuya, Hirokazu, Watanabe, Mitsunori, Murata, Miho, Suzuki, Mikiya, Sugiura, Akira, Sawai, Setsu, Shibuya, Kazumoto, Ueda, Naohisa, Ichikawa, Yaeko, Kanazawa, Ichiro, Goto, Jun, Tsuji, Shoji

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Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan von Kobayashi, Kazuhiro, Kato, Reiko, Kondo-Iida, Eri, Taniguchi-Ikeda, Mariko, Osawa, Makiko, Saito, Kayoko, Toda, Tatsushi

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