森まどか (Mori Madoka) - マイポータル

基本情報

J-GLOBAL ID: 201801008570041915
researchmap会員ID: B000327439

論文

117

Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: A nationwide analysis

Tsuyoshi Matsumura, Hiroya Hashimoto, Hotake Takizawa, Wakako Yoshioka, Madoka Mori-Yoshimura, Yoshihiko Saito, Ichizo Nishino, Harumasa Nakamura

Neuromuscular Disorders 105346-105346 2025年3月
Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori-Yoshimura, Eri Takeshita, Koichi Kimura, Hajime Arahata, Yasuhiro Takeshima, Toshiaki Takahashi, Keiko Ishigaki …

Neurology. Genetics 11(1) e200215 2025年2月
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis

Naoki Suzuki, Madoka Mori-Yoshimura, Ichizo Nishino, Masashi Aoki

Journal of Neuromuscular Diseases 2024年12月20日
Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center

Madoka Mori-Yoshimura, Hotake Takizawa, Atsushi Unuma, Yasushi Oya, Keisuke Yorimoto, Wakana Katsuta, Kenji Miyagi, Noriko Sato, Takatoshi Hara, Yuji Takahashi

Brain and Development 2024年8月
Muscle-specific lack of GFPT1 in knock-in mice triggers ER stress to alleviate misfolded proteins.

Ruchen Zhang, Paniz Farshadyeganeh, Bisei Ohkawara, Kazuki Nakajima, Jun-Ichi Takeda, Mikako Ito, Shaochuan Zhang, Yuki Miyasaka, Tamio Ohno, Madoka Mori-Yoshimura …

Disease models & mechanisms 2024年6月21日
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi …

Journal of neurology, neurosurgery, and psychiatry 2024年6月5日
Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.

Wakako Yoshioka, Harumasa Nakamura, Mari Oba, Yoshihiko Saito, Ichizo Nishino, Madoka Mori-Yoshimura

Journal of neurology 2024年5月1日
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy).

Madoka Mori-Yoshimura, Keiko Ishigaki, Yuko Shimizu-Motohashi, Naoko Ishihara, Atushi Unuma, Sumiko Yoshida, Harumasa Nakamura

Orphanet journal of rare diseases 19(1) 182-182 2024年4月30日
Brain Abnormalities in Becker Muscular Dystrophy: Evaluation by Voxel-Based DTI and Morphometric Analysis.

Hiroyuki Maki, Madoka Mori-Yoshimura, Hiroshi Matsuda, Yasumasa Hashimoto, Miho Ota, Yukio Kimura, Yoko Shigemoto, Naoko Ishihara, Hirohito Kan, Emiko Chiba …

AJNR. American journal of neuroradiology 44(12) 1405-1410 2023年12月11日
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori-Yoshimura, Eri Takeshita, Koichi Kimura, Takahiro Kawashima, Yui Tomo, Hajime Arahata, Daigo Miyazaki …

Annals of clinical and translational neurology 10(12) 2360-2372 2023年12月
Factors influencing the decision to introduce alternative nutrition in patients with Duchenne muscular dystrophy.

Toshiyuki Yamamoto, Madoka Mori-Yoshimura, Yasushi Oya, Hirofumi Komaki, Yuji Takahashi

Muscle & nerve 68(5) 737-742 2023年11月
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.

Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi …

Orphanet journal of rare diseases 18(1) 241-241 2023年8月11日
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

Laura Llansó, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M Blamire, Pierre G Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden …

Neuromuscular disorders : NMD 33(4) 349-357 2023年4月
Clinical characteristics of dysphagic inclusion body myositis.

Kenichiro Taira, Madoka Mori-Yoshimura, Toshiyuki Yamamoto, Yasushi Oya, Ichizo Nishino, Yuji Takahashi

Neuromuscular disorders : NMD 33(2) 133-138 2023年2月
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.

Ursula Moore, Esther Fernández-Simón, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach …

Neuromuscular disorders : NMD 33(2) 199-207 2023年2月
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya …

Human genetics 142(1) 59-71 2023年1月
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi …

Journal of neuromuscular diseases 10(4) 555-566 2023年
Long-term Observation in Patients with Duchenne Muscular Dystrophy with Early Introduction of a Standing Program Using Knee-ankle-foot Orthoses.

Akiko Fujimoto, Katsuhiro Mizuno, Yasuyuki Iwata, Hiroyuki Yajima, Daisuke Nishida, Hirofumi Komaki, Akihiko Ishiyama, Madoka Mori-Yoshimura, Hisateru Tachimori, Yoko Kobayashi

Progress in rehabilitation medicine 8 20230038-20230038 2023年
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.

Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda …

Scientific reports 12(1) 21806-21806 2022年12月16日
Water T2 could predict functional decline in patients with dysferlinopathy.

Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish-Dressman, Fiona E Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W Day …

Journal of cachexia, sarcopenia and muscle 13(6) 2888-2897 2022年12月

もっとみる

MISC

Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy

Wakako Yoshioka, Satoru Noguchi, Madoka Mori‐Yoshimura, Ichizo Nishino

Neurology and Clinical Neuroscience 2022年2月6日
輪状咽頭筋離断術で嚥下障害が著明に改善した封入体筋炎の70歳男性例

平賢一郎, 森まどか, 山本敏之, 西野一三, 二藤隆春, 岡本智子, 高橋祐二

臨床神経学 60(5) 370-370 2020年5月査読有り
Translational research in muscular dystrophy

Shin’ichi Takeda, Yuko Miyagoe-Suzuki, Madoka Mori-Yoshimura

Translational Research in Muscular Dystrophy 1-199 2016年1月1日
Predonisone Therapy for Duchenne Muscular Dystrophy: A Large-Cohort Study with Patient Registry

Fumi Takeuchi, Naohiro Yonemoto, En Kimura, Harumasa Nakamura, Reiko Shimizu, Hirofumi Komaki, Madoka Mori-Yoshimura, Yukiko Hayashi, Ichizo Nishino, Mitsuru Kawai …

NEUROLOGY 80 2013年2月査読有り