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Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis
Author / Creator:Taira, Kenichiro ; Yamamoto, Toshiyuki ; Mori-Yoshimura, Madoka ; Sajima, Kazuaki ; Takizawa, Hotake ; Shinmi, Jun ; Oya, Yasushi ; Nishino, Ichizo ; Takahashi, Yuji
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-03, Vol.268 (3), p.1016-1024
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Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice
Author / Creator:Matsuzaka, Yasunari ; Tanihata, Jun ; Komaki, Hirofumi ; Ishiyama, Akihiko ; Oya, Yasushi ; Rüegg, Urs ; Takeda, Shin-ichi ; Hashido, Kazuo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0167811-e0167811
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RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
Author / Creator:Okubo, Mariko ; Noguchi, Satoru ; Awaya, Tomonari ; Hosokawa, Motoyasu ; Tsukui, Nobue ; Ogawa, Megumu ; Hayashi, Shinichiro ; Komaki, Hirofumi ; Mori-Yoshimura, Madoka ; Oya, Yasushi ; Takahashi, Yuji ; Fukuyama, Tetsuhiro ; Funato, Michinori ; Hosokawa, Yousuke ; Kinoshita, Satoru ; Matsumura, Tsuyoshi ; Nakamura, Sadao ; Oshiro, Azusa ; Terashima, Hiroshi ; Nagasawa, Tetsuro ; Sato, Tatsuharu ; Shimada, Yumi ; Tokita, Yasuko ; Hagiwara, Masatoshi ; Ogata, Katsuhisa ; Nishino, Ichizo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-01, Vol.142 (1), p.59-71
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Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study
Author / Creator:Suzuki, Naoki ; Mori-Yoshimura, Madoka ; Katsuno, Masahisa ; Takahashi, Masanori P ; Yamashita, Satoshi ; Oya, Yasushi ; Hashizume, Atsushi ; Yamada, Shinichiro ; Nakamori, Masayuki ; Izumi, Rumiko ; Kato, Masaaki ; Warita, Hitoshi ; Tateyama, Maki ; Kuroda, Hiroshi ; Asada, Ryuta ; Yamaguchi, Takuhiro ; Nishino, Ichizo ; Aoki, Masashi
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2024-06, Vol.95 (11), p.1093-1094
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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-12, Vol.12 (1), p.21806-21806, Article 21806
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Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
Author / Creator:Mori-Yoshimura, Madoka ; Suzuki, Naoki ; Katsuno, Masahisa ; Takahashi, Masanori P. ; Yamashita, Satoshi ; Oya, Yasushi ; Hashizume, Atsushi ; Yamada, Shinichiro ; Nakamori, Masayuki ; Izumi, Rumiko ; Kato, Masaaki ; Warita, Hitoshi ; Tateyama, Maki ; Kuroda, Hiroshi ; Asada, Ryuta ; Yamaguchi, Takuhiro ; Nishino, Ichizo ; Aoki, Masashi
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.241-241, Article 241
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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
Author / Creator:Hiramuki, Yosuke ; Kure, Yuriko ; Saito, Yoshihiko ; Ogawa, Megumu ; Ishikawa, Keiko ; Mori-Yoshimura, Madoka ; Oya, Yasushi ; Takahashi, Yuji ; Kim, Dae-Seong ; Arai, Noriko ; Mori, Chiaki ; Matsumura, Tsuyoshi ; Hamano, Tadanori ; Nakamura, Kenichiro ; Ikezoe, Koji ; Hayashi, Shinichiro ; Goto, Yuichi ; Noguchi, Satoru ; Nishino, Ichizo
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2022-11, Vol.20 (1), p.517-517, Article 517
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Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report
Author / Creator:Komaki, Ryouhei ; Hashimoto, Yasumasa ; Mori-Yoshimura, Madoka ; Oya, Yasushi ; Takizawa, Hotake ; Minami, Narihiro ; Nishino, Ichizo ; Aoki, Yoshitsugu ; Takahashi, Yuji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.903-909
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Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy
Author / Creator:Matsuzaka, Yasunari ; Kishi, Soichiro ; Aoki, Yoshitsugu ; Komaki, Hirofumi ; Oya, Yasushi ; Takeda, Shin-ichi ; Hashido, Kazuo
Publisher:England: Komiyama Printing Co., Ltd
Journal title:Environmental health and preventive medicine, 2014-11, Vol.19 (6), p.452-458
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The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice
Author / Creator:Matsuzaka, Yasunari ; Tanihata, Jun ; Ooshima, Yoshiko ; Yamada, Daisuke ; Sekiguchi, Masayuki ; Miyatake, Shouta ; Aoki, Yoshitsugu ; Terumitsu, Mika ; Yashiro, Ryu ; Komaki, Hirofumi ; Ishiyama, Akihiko ; Oya, Yasushi ; Inoue, Yukiko U. ; Inoue, Takayoshi ; Takeda, Shin’ichi ; Hashido, Kazuo
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2020-11, Vol.18 (1), p.343-22, Article 343
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Chronic sarcoid myopathy mimicking sporadic inclusion body myositis
Author / Creator:Miyazaki, Masayuki ; Mori-Yoshimura, Madoka ; Yamamoto, Toshiyuki ; Oya, Yasushi ; Saito, Yuko ; Nishino, Ichizo ; Takahashi, Yuji
Publisher:Netherlands: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2019-07, Vol.182, p.84-86
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Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study
Author / Creator:Mori-Yoshimura, Madoka ; Yajima, Hiroyuki ; Oya, Yasushi ; Mizuno, Katsuhiro ; Noguchi, Satoru ; Nishino, Ichizo ; Takahashi, Yuji
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ neurology open, 2022-12, Vol.4 (2), p.e000362-e000362
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Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2
Author / Creator:Nakayama, Takahiro ; Nakamura, Harumasa ; Oya, Yasushi ; Kimura, Takashi ; Imahuku, Ichiro ; Ohno, Kinji ; Nishino, Ichizo ; Abe, Koji ; Matsuura, Tohru
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-03, Vol.59 (3), p.129-133
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Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2
Author / Creator:Mori-Yoshimura, Madoka ; Okuma, Aya ; Oya, Yasushi ; Fujimura-Kiyono, Chieko ; Nakajima, Hideto ; Matsuura, Keita ; Takemura, Aya ; Malicdan, May Christine V ; Hayashi, Yukiko K ; Nonaka, Ikuya ; Murata, Miho ; Nishino, Ichizo
Publisher:Amsterdam: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2012-07, Vol.114 (6), p.678-683
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Massive accumulation of 11C-Pittsburg compound B in the occipital lobes of a patient with early-onset dementia accompanied by muscle weakness and hypertonicity
Author / Creator:Ito, Kimiteru ; Sano, Terunori ; Kamiya, Kouhei ; Nakata, Yasuhiro ; Shigemoto, Yoko ; Sato, Noriko ; Oya, Yasushi ; Matsuda, Hiroshi
Publisher:Tokyo: Springer Japan
Journal title:Annals of nuclear medicine, 2013-12, Vol.27 (10), p.935-941
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Preoperative Foot Orthosis Use Changed the Walking Ability of a Patient with Collagen Ⅵ-related Myopathy: Case Report
Author / Creator:KONDO, Yuki ; ARIAKE, Yosuke ; MIURA, Hiroyuki ; NOZAWA, Daisuke ; OYA, Yasushi ; MATSUI, Ayano
Publisher:Tokyo: The Society of Physical Therapy Science
Journal title:Rigakuryoho Kagaku, 2021, Vol.36(4), pp.631-636
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6型コラーゲン関連筋疾患における術後の歩行能力変化: 装具療法に次いで手術に至った事例への理学療法経験から
Author / Creator:近藤, 夕騎 ; 有明, 陽佑 ; 三浦, 篤行 ; 野澤, 大輔 ; 大矢, 寧 ; 松井, 彩乃
Publisher:理学療法科学学会
Journal title:理学療法科学, 2021, Vol.36(4), pp.631-636
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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Author / Creator:Ogasawara, Masashi ; Iida, Aritoshi ; Kumutpongpanich, Theerawat ; Ozaki, Ayami ; Oya, Yasushi ; Konishi, Hirofumi ; Nakamura, Akinori ; Abe, Ryuta ; Takai, Hiroshi ; Hanajima, Ritsuko ; Doi, Hiroshi ; Tanaka, Fumiaki ; Nakamura, Hisayoshi ; Nonaka, Ikuya ; Wang, Zhaoxia ; Hayashi, Shinichiro ; Noguchi, Satoru ; Nishino, Ichizo
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2020-11, Vol.8 (1), p.204-204, Article 204
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Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice)
Author / Creator:Oya, Yasushi ; Nakayasu, Hiroyuki ; Fujita, Nobuya ; Suzuki, K. ; Suzuki, Kinuko
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 1998-07, Vol.96 (1), p.29-40
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Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply
Author / Creator:Nagatomo, Yuji ; Yoshizawa, Saeko ; Oya, Yasushi ; Nishino, Ichizo
Publisher:US: Oxford University Press
Journal title:European heart journal : case reports, 2023-08, Vol.7 (8), p.ytad348-ytad348
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Showing 1 to 20 of 34 results

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Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis

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Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice

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RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

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Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study

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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

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Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

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Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

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Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

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The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice

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Chronic sarcoid myopathy mimicking sporadic inclusion body myositis

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Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study

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Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2

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Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2

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Massive accumulation of 11C-Pittsburg compound B in the occipital lobes of a patient with early-onset dementia accompanied by muscle weakness and hypertonicity

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Preoperative Foot Orthosis Use Changed the Walking Ability of a Patient with Collagen Ⅵ-related Myopathy: Case Report

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6型コラーゲン関連筋疾患における術後の歩行能力変化: 装具療法に次いで手術に至った事例への理学療法経験から

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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

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Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice)

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Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply

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