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Papers authored by Ichizo Nishino

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2011 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, Satoru Noguchi, Tomoharu Tokutomi, Yu-Ichi Goto, Ikuya Nonaka, Yukiko K. Hayashi, Ichizo Nishino

Peracetylated N-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

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

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

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Satomi Mitsuhashi, Hideyuki Hatakeyama, Minako Karahashi, Tomoko Koumura, Ikuya Nonaka, Yukiko K. Hayashi, Satoru Noguchi, Roger B. Sher, Yasuhito Nakagawa, Giovanni Manfredi, Yu-Ichi Goto, Gregory A. Cox, Ichizo Nishino

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

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Hirofumi Komaki, Yukiko K. Hayashi, Rie Tsuburaya, Kazuma Sugie, Mitsuhiro Kato, Toshiro Nagai, George Imataka, Shuhei Suzuki, Shinji Saitoh

, Naoko Asahina, Kazuya Honke, Yoshihisa Higuchi, Hiroshi Sakuma, Yoshiaki Saito, Eiji Nakagawa and 4 other authors

Inflammatory changes in infantile-onset LMNA-associated myopathy

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Charlotte Fugier, Arnaud F. Klein, Caroline Hammer, Stéphane Vassilopoulos, Ylva Ivarsson, Anne Toussaint, Valérie Tosch, Yosuke Kokunai, Pierre de la Grange, Alban Vignaud, Rie Tsuburaya, Arnaud Ferry, Doulaye Dembele

, Nadia Messaddeq, Virginie Francois and 20 other authors

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

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Belinda S. Cowling, Anne Toussaint, Leonela Amoasii, Pascale Koebel, Arnaud Ferry, Laurianne Davignon, Ichizo Nishino

, Jean-Louis Mandel, Jocelyn Laporte

Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

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Natsumi Ohsawa, Michinori Koebis, Satoshi Suo, Ichizo Nishino

, Shoichi Ishiura

Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy

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Tomoya Kubota, Xavier Roca, Takashi Kimura, Yosuke Kokunai, Ichizo Nishino

, Saburo Sakoda, Adrian R. Krainer, Masanori P. Takahashi

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

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Yoshiaki Saito, Hirofumi Komaki, Ayako Hattori, Fumi Takeuchi, Masayuki Sasaki, Ken Kawabata, Satomi Mitsuhashi, Kayo Tominaga, Yukiko K. Hayashi, Kristen J. Nowak, Nigel G. Laing, Ikuya Nonaka, Ichizo Nishino

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

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Takakuni Maki, Takakuni Maki Md, Riki Matsumoto

, PhD Riki Matsumoto Md, Nobuo Kohara, Takayuki Kondo, Insuk Son, PhD Nobuo Kohara Md, Takayuki Kondo Md, Takahiro Mezaki, Insuk Son Md, Ichizo Nishino

, PhD Takahiro Mezaki Md, PhD Ichizo Nishino Md, Akio Ikeda and 3 other authors

Rippling is not always electrically silent in Rippling muscle disease

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Wen-Chen Liang, Hiroaki Mitsuhashi, Etsuko Keduka, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino

, Yukiko K. Hayashi

TMEM43 Mutations in Emery-Dreifuss Muscular Dystrophy-Related Myopathy

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Masataka Yoda, Hiroaki Tanabe, Ichizo Nishino

, Hisayoshi Suma

Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy

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Satomi Mitsuhashi, Aya Ohkuma, Beril Talim, Minako Karahashi, Tomoko Koumura, Chieko Aoyama, Mana Kurihara, Ros Quinlivan, Caroline Sewry, Hiroaki Mitsuhashi, Kanako Goto, Burcu Koksal, Gulsev Kale, Kazutaka Ikeda, Ryo Taguchi and 10 other authors

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

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Ichizo Nishino

ABC in muscle pathology

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Papers authored by Ichizo Nishino