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Whole genome sequencing of 45 Japanese patients with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1468, doi. 10.1002/ajmg.a.62138
By:
- Abe‐Hatano, Chihiro;
- Iida, Aritoshi;
- Kosugi, Shunichi;
- Momozawa, Yukihide;
- Terao, Chikashi;
- Ishikawa, Keiko;
- Okubo, Mariko;
- Hachiya, Yasuo;
- Nishida, Hiroya;
- Nakamura, Kazuyuki;
- Miyata, Rie;
- Murakami, Chie;
- Takahashi, Kan;
- Hoshino, Kyoko;
- Sakamoto, Haruko;
- Ohta, Sayaka;
- Kubota, Masaya;
- Takeshita, Eri;
- Ishiyama, Akihiko;
- Nakagawa, Eiji
Publication type:
Article
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1100, doi. 10.1002/ajmg.a.36881
By:
- 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
Publication type:
Article
Myelin abnormalities in merosin‐deficient congenital muscular dystrophy.
Published in:
Muscle & Nerve, 2024, v. 69, n. 1, p. 55, doi. 10.1002/mus.28002
By:
- Saito, Yoshihiko;
- Ishiyama, Akihiko;
- Saito, Yuko;
- Komaki, Hirofumi;
- Sasaki, Masayuki
Publication type:
Article
The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice.
Published in:
2020
By:
- 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
Publication type:
journal article
Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey.
Published in:
Brain & Behavior, 2019, v. 9, n. 10, p. N.PAG, doi. 10.1002/brb3.1392
By:
- Ono, Hiroya;
- Shimizu‐Motohashi, Yuko;
- Maruo, Kazushi;
- Takeshita, Eri;
- Ishiyama, Akihiko;
- Saito, Takashi;
- Komaki, Hirofumi;
- Nakagawa, Eiji;
- Sasaki, Masayuki
Publication type:
Article
Renal dysfunction can occur in advanced-stage Duchenne muscular dystrophy.
Published in:
2020
By:
- Motoki, Takahiro;
- Shimizu‐Motohashi, Yuko;
- Saito, Isao;
- Komaki, Hirofumi;
- Ishiyama, Akihiko;
- Aibara, Kaori;
- Jogamoto, Toshihiro;
- Tezuka, Yuko;
- Kawabe, Mika;
- Makino, Akira;
- Nagatani, Koji;
- Tatara, Katsunori;
- Kuwabara, Kozue;
- Kikuchi, Chiya;
- Fukuda, Mitsumasa;
- Ishii, Eiichi;
- Eguchi, Mariko;
- Shimizu-Motohashi, Yuko
Publication type:
journal article
Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders.
Published in:
2018
By:
- Higashihara, Mana;
- Sonoo, Masahiro;
- Ishiyama, Akihiko;
- Nagashima, Yu;
- Matsumoto, Kohji;
- Uesugi, Haruo;
- Mori‐Yoshimura, Madoka;
- Murata, Miho;
- Murayama, Shigeo;
- Komaki, Hirofumi;
- Mori-Yoshimura, Madoka
Publication type:
journal article
Vagus Nerve Stimulation Therapy for Drug-Resistant Epilepsy in Children—A Literature Review.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 3, p. 780, doi. 10.3390/jcm13030780
By:
- Fukuda, Mitsumasa;
- Matsuo, Takeshi;
- Fujimoto, So;
- Kashii, Hirofumi;
- Hoshino, Ai;
- Ishiyama, Akihiko;
- Kumada, Satoko
Publication type:
Article
Publisher Correction: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.
Published in:
2020
By:
- Takizawa, Hotake;
- Hara, Yuko;
- Mizobe, Yoshitaka;
- Ohno, Taisuke;
- Suzuki, Sadafumi;
- Inoue, Ken;
- Takeshita, Eri;
- Shimizu-Motohashi, Yuko;
- Ishiyama, Akihiko;
- Hoshino, Mikio;
- Komaki, Hirofumi;
- Takeda, Shin'ichi;
- Aoki, Yoshitsugu
Publication type:
Correction Notice
Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy.
Published in:
PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0222876
By:
- Ueda, Riyo;
- Matsuda, Hiroshi;
- Sato, Noriko;
- Iwasaki, Masaki;
- Sone, Daichi;
- Takeshita, Eri;
- Shimizu-Motohashi, Yuko;
- Ishiyama, Akihiko;
- Saito, Takashi;
- Komaki, Hirofumi;
- Nakagawa, Eiji;
- Sugai, Kenji;
- Sasaki, Masayuki;
- Kaga, Yoshimi;
- Takeichi, Hiroshige;
- Inagaki, Masumi
Publication type:
Article
De novo GABRA1 mutations in Ohtahara and West syndromes.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 4, p. 566, doi. 10.1111/epi.13344
By:
- Kodera, Hirofumi;
- Ohba, Chihiro;
- Kato, Mitsuhiro;
- Maeda, Toshiyuki;
- Araki, Kaoru;
- Tajima, Daisuke;
- Matsuo, Muneaki;
- Hino‐Fukuyo, Naomi;
- Kohashi, Kosuke;
- Ishiyama, Akihiko;
- Takeshita, Saoko;
- Motoi, Hirotaka;
- Kitamura, Taro;
- Kikuchi, Atsuo;
- Tsurusaki, Yoshinori;
- Nakashima, Mitsuko;
- Miyake, Noriko;
- Sasaki, Masayuki;
- Kure, Shigeo;
- Haginoya, Kazuhiro
Publication type:
Article
A phase I study of TAS‐205 in patients with Duchenne muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1338, doi. 10.1002/acn3.651
By:
- Takeshita, Eri;
- Komaki, Hirofumi;
- Shimizu‐Motohashi, Yuko;
- Ishiyama, Akihiko;
- Sasaki, Masayuki;
- Takeda, Shin'ichi
Publication type:
Article
Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs.
Published in:
Journal of Neurology, 2013, v. 260, n. 5, p. 1263, doi. 10.1007/s00415-012-6787-9
By:
- Nagai, Shigehiro;
- Saito, Yoshiaki;
- Endo, Yukari;
- Saito, Takashi;
- Sugai, Kenji;
- Ishiyama, Akihiko;
- Komaki, Hirofumi;
- Nakagawa, Eiji;
- Sasaki, Masayuki;
- Ito, Kimiteru;
- Saito, Yuko;
- Sukigara, Sayuri;
- Ito, Masayuki;
- Goto, Yu-ichi;
- Ito, Shuichi;
- Matsuoka, Kentaro
Publication type:
Article
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.
Published in:
Neuropsychopharmacology Reports, 2023, v. 43, n. 2, p. 277, doi. 10.1002/npr2.12335
By:
- 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
Publication type:
Article
Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C<sub>2</sub>C<sub>12</sub> Myocytes and mdx Mice.
Published in:
PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167811
By:
- Matsuzaka, Yasunari;
- Tanihata, Jun;
- Komaki, Hirofumi;
- Ishiyama, Akihiko;
- Oya, Yasushi;
- Rüegg, Urs;
- Takeda, Shin-ichi;
- Hashido, Kazuo
Publication type:
Article
Relationship between Cervical Mucus Interleukin-8 Concentrations and Vaginal Bacteria in Pregnancy.
Published in:
American Journal of Reproductive Immunology, 2004, v. 52, n. 2, p. 106, doi. 10.1111/j.1600-0897.2004.00203.x
By:
- Sakai, Masatoshi;
- Ishiyama, Akihiko;
- Tabata, Mika;
- Sasaki, Yasushi;
- Yoneda, Satoshi;
- Shiozaki, Arihiro;
- Saito, Shigeru
Publication type:
Article
Long-term Observation in Patients with Duchenne Muscular Dystrophy with Early Introduction of a Standing Program Using Knee–ankle–foot Orthoses.
Published in:
Progress in Rehabilitation Medicine, 2023, v. 8, p. 1, doi. 10.2490/prm.20230038
By:
- Akiko Fujimoto;
- Katsuhiro Mizuno;
- Yasuyuki Iwata;
- Hiroyuki Yajima;
- Daisuke Nishida;
- Hirofumi Komaki;
- Akihiko Ishiyama;
- Madoka Mori-Yoshimura;
- Hisateru Tachimori;
- Yoko Kobayashi
Publication type:
Article
Intractable epilepsy due to a rosette‐forming glioneuronal tumor with a dysembryoplastic neuroepithelial background.
Published in:
Neuropathology, 2018, v. 38, n. 3, p. 300, doi. 10.1111/neup.12450
By:
- Sumitomo, Noriko;
- Ishiyama, Akihiko;
- Shibuya, Makoto;
- Nakagawa, Eiji;
- Kaneko, Yu;
- Takahashi, Akio;
- Otsuki, Taisuke;
- Kakita, Akiyoshi;
- Saito, Yuko;
- Sato, Noriko;
- Sugai, Kenji;
- Sasaki, Masayuki
Publication type:
Article

Found: 18