Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Mori-Yoshimura, Madoka, Ishigaki, Keiko, Shimizu-Motohashi, Yuko, Ishihara, Naoko, Unuma, Atushi, Yoshida, Sumiko, Nakamura, Harumasa
Published in Orphanet journal of rare diseases (30.04.2024)
Published in Orphanet journal of rare diseases (30.04.2024)
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Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan
Hama, Manami, Horie, Riho, Kubota, Tomoya, Matsumura, Tsuyoshi, Kimura, En, Nakamura, Harumasa, Takahashi, Masanori P., Takada, Hiroto
Published in Journal of the neurological sciences (15.08.2021)
Published in Journal of the neurological sciences (15.08.2021)
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First-in-human clinical trial of the NKT cell-stimulatory glycolipid OCH in multiple sclerosis
Sato, Wakiro, Noto, Daisuke, Araki, Manabu, Okamoto, Tomoko, Lin, Youwei, Yamaguchi, Hiromi, Kadowaki-Saga, Ryoko, Kimura, Atsuko, Kimura, Yukio, Sato, Noriko, Ishizuka, Takami, Nakamura, Harumasa, Miyake, Sachiko, Yamamura, Takashi
Published in Therapeutic advances in neurological disorders (01.01.2023)
Published in Therapeutic advances in neurological disorders (01.01.2023)
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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
Yoshioka, Wakako, Iida, Aritoshi, Sonehara, Kyuto, Yamamoto, Kazuki, Oya, Yasushi, Mori-Yoshimura, Madoka, Kurashige, Takashi, Okubo, Mariko, Ogawa, Megumu, Matsuda, Fumihiko, Higasa, Koichiro, Hayashi, Shinichiro, Nakamura, Harumasa, Sekijima, Masakazu, Okada, Yukinori, Noguchi, Satoru, Nishino, Ichizo
Published in Scientific reports (16.12.2022)
Published in Scientific reports (16.12.2022)
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Characteristics of myotonic dystrophy patients in the national registry of Japan
Sugimoto, Marika, Kuru, Satoshi, Takada, Hiroto, Horie, Riho, Yamauchi, Kosuke, Kubota, Tomoya, Matsumura, Tsuyoshi, Nakamura, Harumasa, Kimura, En, Takahashi, Masanori P.
Published in Journal of the neurological sciences (15.01.2022)
Published in Journal of the neurological sciences (15.01.2022)
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Journal Article
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Yoshioka, Wakako, Miyasaka, Naoyuki, Okubo, Ryo, Shimizu, Reiko, Takahashi, Yuji, Oda, Yuriko, Nishino, Ichizo, Nakamura, Harumasa, Mori-Yoshimura, Madoka
Published in Orphanet journal of rare diseases (11.09.2020)
Published in Orphanet journal of rare diseases (11.09.2020)
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Journal Article
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Published in Orphanet journal of rare diseases (31.08.2017)
Published in Orphanet journal of rare diseases (31.08.2017)
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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force
Nabbout, Rima, Zanello, Galliano, Baker, Dixie, Black, Lora, Brambilla, Isabella, Buske, Orion J, Conklin, Laurie S, Davies, Elin Haf, Julkowska, Daria, Kim, Yeonju, Klopstock, Thomas, Nakamura, Harumasa, Nielsen, Kim G, Pariser, Anne R, Pastor, Jose Carlos, Scarpa, Maurizio, Smith, Maureen, Taruscio, Domenica, Groft, Stephen
Published in Orphanet journal of rare diseases (09.05.2023)
Published in Orphanet journal of rare diseases (09.05.2023)
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Journal Article
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Nordin, Joel Z, Mizobe, Yoshitaka, Nakamura, Harumasa, Komaki, Hirofumi, Takeda, Shin'ichi, Aoki, Yoshitsugu
Published in Journal of visualized experiments (07.05.2020)
Published in Journal of visualized experiments (07.05.2020)
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Journal Article
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
Nakamura, Harumasa, Kimura, En, Mori-Yoshimura, Madoka, Komaki, Hirofumi, Matsuda, Yu, Goto, Kanako, Hayashi, Yukiko K, Nishino, Ichizo, Takeda, Shin'ichi, Kawai, Mitsuru
Published in Orphanet journal of rare diseases (19.04.2013)
Published in Orphanet journal of rare diseases (19.04.2013)
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Journal Article
Efficacy and Safety of the Natural Killer T Cell-Stimulatory Glycolipid OCH-NCNP1 for Patients With Relapsing Multiple Sclerosis: Protocol for a Randomized Placebo-Controlled Clinical Trial
Okamoto, Tomoko, Ishizuka, Takami, Shimizu, Reiko, Asahina, Yasuko, Nakamura, Harumasa, Shimizu, Yuko, Nishida, Yoichiro, Yokota, Takanori, Lin, Youwei, Sato, Wakiro, Yamamura, Takashi
Published in JMIR research protocols (15.01.2024)
Published in JMIR research protocols (15.01.2024)
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Systemic administration of the antisense oligonucleotide NS‐089/NCNP‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial
Ishizuka, Takami, Komaki, Hirofumi, Asahina, Yasuko, Nakamura, Harumasa, Motohashi, Norio, Takeshita, Eri, Shimizu‐Motohashi, Yuko, Ishiyama, Akihiko, Yonee, Chihiro, Maruyama, Shinsuke, Hida, Eisuke, Aoki, Yoshitsugu
Published in Neuropsychopharmacology reports (01.06.2023)
Published in Neuropsychopharmacology reports (01.06.2023)
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Journal Article
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania
Takeuchi, Fumi, Nakamura, Harumasa, Yonemoto, Naohiro, Komaki, Hirofumi, Rosales, Raymond L., Kornberg, Andrew J., Bretag, Allan H., Dejthevaporn, Charungthai, Goh, Khean Jin, Jong, Yuh-Jyh, Kim, Dae-Seong, Khadilkar, Satish V., Shen, Dingguo, Wong, Kum Thong, Chai, Josiah, Chan, Sophelia Hoi-Shan, Khan, Sara, Ohnmar, Ohnmar, Nishino, Ichizo, Takeda, Shin'ichi, Nonaka, Ikuya
Published in Brain & development (Tokyo. 1979) (01.03.2020)
Published in Brain & development (Tokyo. 1979) (01.03.2020)
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