Ichizo Nishino - Dissemin

Papers authored by Ichizo Nishino

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2014 Ken-Ya Murata, Hideo Sugie, Ichizo Nishino

, Tomoyoshi Kondo, Hidefumi Ito

A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency

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Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino

, Yukiko K. Hayashi

A nationwide survey on Marinesco-Sjögren syndrome in Japan

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Satoru Noguchi, Megumu Ogawa, Genri Kawahara, May Christine Malicdan, Ichizo Nishino

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

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2013 Vandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J Todd, Lindsay C Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F Clarke, Basil T Darras, Michelle A Farrar, Amal Hashem, Nicholas D Manton, Francesco Muntoni, Kathryn N North and 15 other authors

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

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Takashi Kurashige, Tetsuya Takahashi, Yu Yamazaki, Yoshito Nagano, Keita Kondo, Takeshi Nakamura, Takemori Yamawaki, Rie Tsuburaya, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino

, Masayasu Matsumoto

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy

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T. Motoki, M. Fukuda, T. Nakano, S. Matsukage, A. Fukui, S. Akiyoshi, Y. K. Hayashi, E. Ishii, I. Nishino

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report

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Satomi Mitsuhashi, Ichizo Nishino

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β

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Fumi Takeuchi, Naohiro Yonemoto, Harumasa Nakamura, Reiko Shimizu, Hirofumi Komaki, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Ichizo Nishino

, Mitsuru Kawai, En Kimura, Shin’ichi Takeda

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

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A. Cho, Y. K. Hayashi, K. Monma, Y. Oya, S. Noguchi, I. Nonaka, I. Nishino

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

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Wen-Chen Liang, Yukiko K. Hayashi, Megumu Ogawa, Chien-Hua Wang, Wan-Ting Huang, Ichizo Nishino

, Yuh-Jyh Jong

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

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Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Yusuke Itagaki, Koji Matsuzaki, Michiaki Nakura, Ichizo Nishino

, Yu-Ichi Goto, Masayuki Sasaki

Unusual exocrine complication of pancreatitis in mitochondrial disease

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Po-Ching Chou, Wen-Chen Liang, Ikuya Nonaka, Satomi Mitsuhashi, Ichizo Nishino

, Yuh-Jyh Jong

Intranuclear rods myopathy with autonomic dysfunction

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Michinori Koebis, Tamami Kiyatake, Hiroshi Yamaura, Kanako Nagano, Mana Higashihara, Masahiro Sonoo, Yukiko Hayashi, Yoichi Negishi, Yoko Endo-Takahashi, Dai Yanagihara, Ryoichi Matsuda, Masanori P. Takahashi, Ichizo Nishino

, Shoichi Ishiura

Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice

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Kosuke Oana, Yoko Oma, Satoshi Suo, Masanori P. Takahashi, Ichizo Nishino

, Shin'ichi Takeda, Shoichi Ishiura

Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice

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Ros Quinlivan, Satomi Mitsuahashi, Caroline Sewry, Sebahattin Cirak, Chieko Aoyama, David Mooore, Stephen Abbs, Stephanie Robb, Tina Newton, Celia Moss, Daniel Birchall, Hiroyuki Sugimoto, Kate Bushby, Michela Guglieri, Francesco Muntoni and 2 other authors

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

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Gianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, Emily J Todd, Pauliina Vornanen, Kyle S Yau, Yukiko K Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto and 40 other authors

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

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A. Uruha, I. Nishino

Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare

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Tohru Matsuura, Tatsuaki Kurosaki, Yoshio Omote, Narihiro Minami, Yukiko K. Hayashi, Ichizo Nishino

, Koji Abe

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

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Nobuyuki Murakami, Yukiko K. Hayashi, Yuji Oto, Masahisa Shiraishi, Hisashi Itabashi, Kyoko Kudo, Ichizo Nishino

, Ikuya Nonaka, Toshiro Nagai

Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood

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Ivan Nemazanyy, Bert Blaauw, Cecilia Paolini, Catherine Caillaud, Feliciano Protasi, Amelie Mueller, Tassula Proikas‐Cezanne, Ryan C. Russell, Kun‐Liang Guan, Ichizo Nishino

, Marco Sandri, Mario Pende, Ganna Panasyuk

Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease

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Papers authored by Ichizo Nishino