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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

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

1-A-D-12. Utility of quantitative and non-invasive surface EMG analysis for pediatric neuromuscular disorders

Higashihara, Mana, Sonoo, Masahiro, Ishiyama, Akihiko, Nagashima, Yu, Uesugi, Haruo, Yoshimura, Madoka Mori, Murata, Miho, Murayama, Shigeo, Komaki, Hirofumi

Journal:

Clinical Neurophysiology

Year:

2015

Language:

english

File:

PDF, 35 KB

english, 2015

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

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

37

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

38

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

39

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

40

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

Segawa, Kazuhiko, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Oya, Yasushi, Kimura, Koichi, Tachimori, Hisateru, Kato, Naohiro, Sasaki, Masayuki, Takahashi, Yuji

Journal:

Medicine (Medicine Publishing Company Ltd)

Year:

2017

Language:

english

File:

PDF, 546 KB

english, 2017

41

Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

Mori-Yoshimura, Madoka, Mizuno, Yukio, Yoshida, Sumiko, Minami, Narihiro, Yonemoto, Naohiro, Takeuchi, Fumi, Nishino, Ichizo, Murata, Miho, Takeda, Shin'ichi, Takahashi, Yuji, Kimura, En

Journal:

Brain and Development

Year:

2017

Language:

english

File:

PDF, 359 KB

english, 2017

42

Comparison of sentinel lymph node biopsy between invasive lobular carcinoma and invasive ductal carcinoma

Adachi, Yayoi, Sawaki, Masataka, Hattori, Masaya, Yoshimura, Akiyo, Gondo, Noami, Kotani, Haruru, Iwase, Madoka, Kataoka, Ayumi, Onishi, Sakura, Sugino, Kayoko, Terada, Mitsuo, Horisawa, Nanae, Mori,

Journal:

Year:

2018

Language:

english

File:

PDF, 972 KB

english, 2018

43

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

Inoue, Michio, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Nagaoka, Atsushi, Yoshimura, Shunsuke, Shiraishi, Hirokazu, Tsujino, Akira, Takahashi, Yuji, Nonaka, Ikuya, Hayashi, Yukiko

Journal:

Human Genome Variation

Year:

2018

Language:

english

File:

PDF, 4.49 MB

english, 2018

44

Childhood-onset anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy needs to be distinguished from muscular dystrophy: A case study

Hama, Yuka, Mori-Yoshimura, Madoka, Komaki, Hirofumi, Suzuki, Shigeaki, Kohsaka, Hitoshi, Nishino, Ichizo, Takahashi, Yuji

Journal:

Rinsho Shinkeigaku

Year:

2017

File:

PDF, 1.62 MB

2017

45

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

Mori-Yoshimura, Madoka, Mitsuhashi, Satomi, Nakamura, Harumasa, Komaki, Hirofumi, Goto, Kanako, Yonemoto, Naohiro, Takeuchi, Fumi, Hayashi, Yukiko K., Murata, Miho, Takahashi, Yuji, Nishino, Ichizo, T

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 332 KB

english, 2018

46

Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders

Higashihara, Mana, Sonoo, Masahiro, Ishiyama, Akihiko, Nagashima, Yu, Matsumoto, Kohji, Uesugi, Haruo, Mori-Yoshimura, Madoka, Murata, Miho, Murayama, Shigeo, Komaki, Hirofumi

Journal:

Year:

2018

Language:

english

File:

PDF, 1.30 MB

english, 2018

47

Occult breast cancer may originate from ectopic breast tissue present in axillary lymph nodes

Terada, Mitsuo, Adachi, Yayoi, Sawaki, Masataka, Hattori, Masaya, Yoshimura, Akiyo, Naomi, Gondo, Kotani, Haruru, Iwase, Madoka, Kataoka, Ayumi, Onishi, Sakura, Sugino, Kayoko, Mori, Makiko, Horisawa,

Journal:

Breast Cancer Research and Treatment

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

48

National registry of patients with Fukuyama congenital muscular dystrophy in Japan

Ishigaki, Keiko, Ihara, Chikoto, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Maruo, Kazushi, Taniguchi-Ikeda, Mariko, Kimura, En, Murakami, Terumi, Sato, Takatoshi, Toda, Tatsushi, Kaiya, Hisanobu, Os

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 927 KB

english, 2018

49

Emery-Dreifuss Muscular Dystrophy-Related Myopathy with TMEM43 Mutations

Mukai, Taiji, Mori-Yoshimura, Madoka, Nishikawa, Atsuko, Hokkoku, Keiichi, Sonoo, Masahiro, Nishino, Ichizo, Takahashi, Yuji

Journal:

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

50

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B

Okubo, Mariko, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Oya, Yasushi, Watanabe, Akihiro, Arahata, Hajime, El Sherif, Rasha, Noguchi, Satoru, Nishino, Ichizo

Journal:

Journal of the Neurological Sciences

Year:

2018

Language:

english

File:

PDF, 1.40 MB

english, 2018