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1

Respiratory and cardiac function in japanese patients with dysferlinopathy

Nishikawa, Atsuko, Mori-Yoshimura, Madoka, Segawa, Kazuhiko, Hayashi, Yukiko K., Takahashi, Toshiaki, Saito, Yuko, Nonaka, Ikuya, Krahn, Martin, Levy, Nicolas, Shimizu, Jun, Mitsui, Jun, Kimura, En, G

Journal:

Year:

2016

Language:

english

File:

PDF, 440 KB

english, 2016

2

Riluzole-induced interstitial lung disease is a rare and potentially life-threatening adverse event successfully treated with high-dose steroid therapy: Case reports and review of the literature

Saitoh, Yuji, Aoshima, Yohei, Mukai, Taiji, Abe, Hiroki, Ariga, Hajime, Mori-Yoshimura, Madoka, Okamoto, Tomoko, Takahashi, Yuji

Journal:

Journal of the Neurological Sciences

Year:

2020

Language:

english

File:

PDF, 416 KB

english, 2020

3

Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

Toki, Taira, Shimizu-Motohashi, Yuko, Komaki, Hirofumi, Takeshita, Eri, Ishiyama, Akihiko, Saito, Takashi, Mori-Yoshimura, Madoka, Sumitomo, Noriko, Hirasawa-Inoue, Ayaka, Nakagawa, Eiji, Nishino, Ich

Journal:

Pediatric Neurology

Year:

2021

File:

PDF, 104 KB

2021

4

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 217 KB

english, 2013

5

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure

Uruha, Akinori, Hayashi, Yukiko K, Oya, Yasushi, Mori-Yoshimura, Madoka, Kanai, Masahiro, Murata, Miho, Kawamura, Mayumi, Ogata, Katsuhisa, Matsumura, Tsuyoshi, Suzuki, Shigeaki, Takahashi, Yukako, Ko

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 535 KB

english, 2015

6

Nationwide patient registry for GNE myopathy in Japan

Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Yonemoto, Naohiro, Nakamura, Harumasa, Murata, Miho, Takeda, Shin’ichi, Nishino, Ichizo, Kimura, En

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 988 KB

english, 2014

7

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

Naoki Suzuki,Madoka Mori-Yoshimura,Satoshi Yamashita…

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 641 KB

english, 2016

8

A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency

Uruha, Akinori, Hayashi, Yukiko K., Mori-Yoshimura, Madoka, Oya, Yasushi, Kanai, Masahiro, Murata, Miho, Nishino, Ichizo

Journal:

Brain Pathology

Year:

2018

Language:

english

File:

PDF, 127 KB

english, 2018

9

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 785 KB

english, 2017

10

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan

Suzuki, Naoki, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Nakano, Satoshi, Murata, Ken-ya, Mori, Megumi, Inamori, Yukie, Matsui, Naoko, Kimura, En, Kusaka, Hirofumi, Kondo, Tomoyoshi, Ito, Hidefumi,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.32 MB

english, 2019

11

FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY

Ishigaki, K., Ihara, C., Nakamura, H., Mori-Yoshimura, M., Maruo, K., Murakami, T., Sato, T., Shichiji, M., Ishiguro, K., Nagata, S., Kaiya, H., Osawa, M.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 94 KB

2019

12

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 731 KB

2020

13

Increase in number of sporadic inclusion body myositis (sIBM) in Japan

Naoki Suzuki, Masashi Aoki, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 263 KB

english, 2012

14

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study

Yoshihiko Furusawa, Madoka Mori-Yoshimura, Toshiyuki Yamamoto, Chikako Sakamoto, Mizuki Wakita, Yoko Kobayashi, Yutaka Fukumoto, Yasushi Oya, Tokiko Fukuda, Hideo Sugie, Yukiko K. Hayashi, Ichizo Nish

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 295 KB

english, 2012

15

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy

Mami Shimizu-Fujiwara, Hirofumi Komaki, Eiji Nakagawa, Madoka Mori-Yoshimura, Yasushi Oya, Toshiyuki Fujisaki, Yasuko Tokita, Norika Kubota, Rie Shimazaki, Kimiko Sato, Tomoko Ishikawa, Katsumasa Goto

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 162 KB

english, 2012

16

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

Madoka Mori-Yoshimura, Aya Okuma, Yasushi Oya, Chieko Fujimura-Kiyono, Hideto Nakajima, Keita Matsuura, Aya Takemura, May Christine V. Malicdan, Yukiko K. Hayashi, Ikuya Nonaka, Miho Murata, Ichizo Ni

Journal:

Clinical Neurology and Neurosurgery

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

17

P2.03 Natural course of distal myopathy with rimmed vacuoles (hereditary inclusion body myopathy) in Japan. The distal myopathy functional scale (DMFS) for assessment of clinical status

M. Mori-Yoshimura, K. Momma, H. Nakamura, Y. Oya, M.V. Malicdan, S. Noguchi, Y.H. Hayashi, M. Murata, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

18

Videofluorographic detection of anti–muscle-specific kinase–positive myasthenia gravis

Toshiyuki Yamamoto, Norio Chihara, Madoka Mori-Yoshimura, Miho Murata

Journal:

American Journal of Otolaryngology

Year:

2012

Language:

english

File:

PDF, 356 KB

english, 2012

19

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

Madoka Mori-Yoshimura, Kazunari Monma, Naoki Suzuki, Masashi Aoki, Toshihide Kumamoto, Keiko Tanaka, Hiroyuki Tomimitsu, Satoshi Nakano, Masahiro Sonoo, Jun Shimizu, Kazuma Sugie, Harumasa Nakamura, Y

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 254 KB

english, 2012

20

G.P.30 Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Mori-Yoshimura, M., Oya, Y., Noguchi, S., Hayashi, Y.K., Nishino, I., Murata, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

21

S.P.29 Respiratory dysfunction of dysferlinopathy

Nishikawa, A., Mori-Yoshimura, M., Hayashi, Y., Oya, Y., Nishino, I., Murata, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

22

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

Takeuchi, Fumi, Yonemoto, Naohiro, Nakamura, Harumasa, Shimizu, Reiko, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Nishino, Ichizo, Kawai, Mitsuru, Kimura, En, Takeda, Shin’ichi

Journal:

Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 260 KB

english, 2013

23

GNE myopathy: A prospective natural history study of disease progression

Mori-Yoshimura, Madoka, Oya, Yasushi, Yajima, Hiroyuki, Yonemoto, Naohiro, Kobayashi, Yoko, Hayashi, Yukiko K., Noguchi, Satoru, Nishino, Ichizo, Murata, Miho

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 272 KB

english, 2014

24

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Mori-Yoshimura, Madoka, Oya, Yasushi, Hayashi, Yukiko K., Noguchi, Satoru, Nishino, Ichizo, Murata, Miho

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 355 KB

english, 2013

25

P.7.9 Current status of dystrophinopathy patient registry in Japan: Remudy

Kimura, E., Nakamura, H., Hayashi, Y.K., Mori-Yoshimura, M., Shimuzu, R., Komaki, H., Nishino, I., Kawai, M., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

26

Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy

Shimizu, Yusuke, Suzuki, Shigeaki, Mori-Yoshimura, Madoka, Nagasao, Tomohisa, Toriumi, Masahiro, Oji, Tomito, Murata, Miho, Kishi, Kazuo

Journal:

Journal of Plastic, Reconstructive & Aesthetic Surgery

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

27

G.P.258

Takeuchi, F., Nakamura, H., Mitsuhashi, S., Mori-Yoshimura, M., Hayashi, Y.K., Shimizu, R., Komaki, H., Nishino, I., Kawai, M., Takeda, S., Kimura, E.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

28

G.P.259

Mori-Yoshimura, M., Hayashi, Y.K., Yonemoto, N., Murata, M., Takeda, S., Nishino, I., Kimura, E.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 57 KB

english, 2014

29

Late-onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case

Furusawa, Yoshihiko, Mitsuhashi, Satomi, Mori-Yoshimura, Madoka, Shimada, Yohta, Yamamoto, Toshiyuki, Shibuya, Makoto, Shimizu, Jun, Ohashi, Toya, Saito, Yuko, Nishino, Ichizo, Oya, Yasushi, Murata, M

Journal:

Neurology and Clinical Neuroscience

Year:

2014

Language:

english

File:

PDF, 258 KB

english, 2014

30

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

Nishioka, Kenya, Oyama, Genko, Yoshino, Hiroyo, Li, Yuanzhe, Matsushima, Takashi, Takeuchi, Chisen, Mochizuki, Yoko, Mori-Yoshimura, Madoka, Murata, Miho, Yamasita, Chikara, Nakamura, Norimichi, Konis

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

31

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

Motoki, Takahiro, Shimizu-Motohashi, Yuko, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Oya, Yasushi, Takeshita, Eri, Ishiyama, Akihiko, Saito, Takashi, Nakagawa, Eiji, Sugai, Kenji, Murata, Miho, Sasaki

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 777 KB

english, 2015

32

Translational Research in Muscular Dystrophy ||

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

Year:

2016

Language:

english

File:

PDF, 5.03 MB

english, 2016

33

Translational Research in Muscular Dystrophy || Toward Regenerative Medicine for Muscular Dystrophies

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

Year:

2016

Language:

english

File:

PDF, 222 KB

english, 2016

34

Translational Research in Muscular Dystrophy || Translational Research on DMD in Japan

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

Year:

2016

Language:

english

File:

PDF, 144 KB

english, 2016

35

Translational Research in Muscular Dystrophy || Translational Research in Nucleic Acid Therapies for Muscular Dystrophies

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

Year:

2016

Language:

english

File:

PDF, 1.19 MB

english, 2016

36

Translational Research in Muscular Dystrophy || Stem Cell-Based Therapy for Duchenne Muscular Dystrophy

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

Year:

2016

Language:

english

File:

PDF, 647 KB

english, 2016

37

Translational Research in Muscular Dystrophy || Targeting the Type I TGF-β Receptor for Treating Caveolin-3-Deficient Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1C and Muscle Wasting Disorders

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

Year:

2016

Language:

english

File:

PDF, 384 KB

english, 2016

38

Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene

Matsubara, Shiro, Shimizu, Toshio, Komori, Takashi, Mori-Yoshimura, Madoka, Minami, Narihiro, Hayashi, Yukiko K

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 537 KB

english, 2016

39

Chronic Myopathy Associated With Anti–Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy

Ikeda, Kensuke, Mori-Yoshimura, Madoka, Yamamoto, Toshiyuki, Sonoo, Masahiro, Suzuki, Shigeaki, Kondo, Yoshiyuki, Nakamura, Harumasa, Mitsuhashi, Kana, Maeda, Meiko Hashimoto, Shimizu, Jun, Hayashi, Y

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2016

Language:

english

File:

PDF, 521 KB

english, 2016

40

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A

Mori-Yoshimura, Madoka, Segawa, Kazuhiko, Minami, Narihiro, Oya, Yasushi, Komaki, Hirohumi, Nonaka, Ikuya, Nishino, Ichizo, Murata, Miho

Journal:

Year:

2016

Language:

english

File:

PDF, 784 KB

english, 2016

41

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

Liang, Wen-Chen, Uruha, Akinori, Suzuki, Shigeaki, Murakami, Nobuyuki, Takeshita, Eri, Chen, Wan-Zi, Jong, Yuh-Jyh, Endo, Yukari, Komaki, Hirofumi, Fujii, Tatsuya, Kawano, Yutaka, Mori-Yoshimura, Mado

Journal:

Year:

2016

Language:

english

File:

PDF, 101 KB

english, 2016

42

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

Zhu, Wenhua, Mitsuhashi, Satomi, Yonekawa, Takahiro, Noguchi, Satoru, Huei, Josiah Chai Yui, Nalini, Atchayaram, Preethish-Kumar, Veeramani, Yamamoto, Masayoshi, Murakata, Kenji, Mori-Yoshimura, Madok

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.00 MB

english, 2016

43

Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy

Mizuno, Yukio, Mori-Yoshimura, Madoka, Okamoto, Tomoko, Oya, Yasushi, Nishino, Ichizo, Murata, Miho

Journal:

Rinsho Shinkeigaku

Year:

2016

File:

PDF, 836 KB

2016

44

Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report

Kondo, Yoshiyuki, Mori-Yoshimura, Madoka, K. Hayashi, Yukiko, Oya, Yasushi, Satoh, Noriko, Nishino, Ichizo, Murata, Miho

Journal:

Rinsho Shinkeigaku

Year:

2010

File:

PDF, 737 KB

2010

45

Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy

Nishikawa, Atsuko, Mori-Yoshimura, Madoka, Okamoto, Tomoko, Oya, Yasushi, Nakata, Tomohiko, Ohno, Kinji, Murata, Miho

Journal:

Rinsho Shinkeigaku

Year:

2014

File:

PDF, 478 KB

2014

46

The infrastructure for the clinical research of muscular dystrophies: Remudy and MDCTN

Kimura, En, Nakamura, Harumasa, Mitsuhashi, Satomi, Takeuchi, Fumi, Mori-Yoshimura, Madoka, Shimizu, Reiko, Komaki, Hirofumi, Hayashi, Yukiko K, Nishino, Ichizo, Kawai, Mitsuru, Takeda, Shin‘ichi

Journal:

Rinsho Shinkeigaku

Year:

2014

File:

PDF, 270 KB

2014

47

Alu-mediated copy number variants in GNE myopathy

Zhu, W., Mitsuhashi, S., Yonekawa, T., Noguchi, S., Chai Yui Huei, J., Nalini, A., Preethish-Kumar, V., Yamamoto, M., Murakata, K., Mori-Yoshimura, M., Kamada, S., Yahikozawa, H., Karasawa, M., Kimura

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

48

Current status of dystrophinopathy national registry in Japan

Kimura, E., Mori-Yoshimura, M., Mitsuhashi, S., Takeuchi, F., Nakamura, H., Komaki, H., Nishino, I., Kawai, M., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

49

Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients

Ishigaki, K., Ihara, C., Mori-Yoshimura, M., Murakami, T., Sato, T., Ishiguro, K., Shichiji, M., Nagata, S., Kaiya, H., Osawa, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

50

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A

Mori-Yoshimura, Madoka, Segawa, Kazuhiko

Journal:

Year:

2017

Language:

english

File:

PDF, 584 KB

english, 2017

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