Papers

This paper was not found in any repository, but could be made available legally by the author.

2012 Shinya Sato, Takekazu Ohi, Ichizo Nishino

, Hideo Sugie

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

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Hisashi Kawashima, Kiyoko Watanabe, Yasuyoshi Morishima, Hiroaki Ioi, Yasuyo Kashiwagi, Tasuku Miyajima, Kouji Takekuma, Ichizo Nishino

, Hironao Numabe

High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation

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Ayako Hattori, Hirofumi Komaki, Masao Kawatani, Hiroshi Sakuma, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

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Sayuri Sukigara, Wen-Chen Liang, Hirofumi Komaki, Tokiko Fukuda, Takeshi Miyamoto, Takashi Saito, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Yukiko K. Hayashi, Hideo Sugie, Masayuki Sasaki, Ichizo Nishino

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

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Fuminobu Sugai, Kousuke Baba, Keiko Toyooka, Wen-Chen Liang, Ichizo Nishino

, Misaki Yamadera, Hisae Sumi, Harutoshi Fujimura, Yoshiro Nishikawa

Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

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Tohru Matsuura, Narihiro Minami, Hajime Arahata, Kinji Ohno, Koji Abe, Yukiko K. Hayashi, Ichizo Nishino

Myotonic dystrophy type 2 is rare in the Japanese population

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Ichizo Nishino

, Satoru Noguchi

Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)

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Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino

, Koji Abe

Novel Mutations of theGNEGene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression

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This paper is made freely available by the publisher.

Chie Matsuda, Katsuya Miyake, Kimihiko Kameyama, Etsuko Keduka, Hiroshi Takeshima, Toru Imamura, Nobukazu Araki, Ichizo Nishino

, Yukiko Hayashi

The C2A domain in dysferlin is important for association with MG53 (TRIM72)

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Misato Fujita, Hiroaki Mitsuhashi, Sumio Isogai, Takahiro Nakata, Atsushi Kawakami, Ikuya Nonaka, Satoru Noguchi, Yukiko K. Hayashi, Ichizo Nishino

, Akira Kudo

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro

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Yoshihisa Ohtsuka, Naoko Yasui, Kenji Sekiguchi, Hisatomo Kowa, Ichizo Nishino

, Fumio Kanda, Tatsushi Toda

A case of amyloidosis with amyloid deposition detected only in skeletal muscles

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2011 Zohar Argov, Ichizo Nishino

, Ikuya Nonaka

GNE Myopathy (Hereditary Inclusion-Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology

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May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino

Function and Mutations of the GNE Gene Leading to Distal Myopathy with Rimmed Vacuoles/Hereditary Inclusion-Body Myopathy, Animal Models, and Potential Treatment

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May Christine V. Malicdan, Ichizo Nishino

Autophagy in Lysosomal Myopathies

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May Christine V. Malicdan, Satoru Noguchi, Tomoharu Tokutomi, Yu-Ichi Goto, Ikuya Nonaka, Yukiko K. Hayashi, Ichizo Nishino

PeracetylatedN-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy

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Satomi Mitsuhashi, Ichizo Nishino

Phospholipid synthetic defect and mitophagy in muscle disease

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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 Nishino

, Ikuya Nonaka, Miho Murata

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

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Atsuhito Takeda, Akira Sudo, Masafumi Yamada, Hirokuni Yamazawa, Gaku Izumi, Ichizo Nishino

, Tadashi Ariga

Eponym

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Atsuhito Takeda, Akira Sudo, Masafumi Yamada, Hirokuni Yamazawa, Gaku Izumi, Ichizo Nishino

, Tadashi Ariga

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

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Shigeaki Suzuki, Masayasu Ohta, Yuko Shimizu, Yukiko K. Hayashi, Ichizo Nishino

Anti-Signal Recognition Particle Myopathy in the First Decade of Life

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