Ichizo Nishino - Dissemin

Papers authored by Ichizo Nishino

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2012 Takayoshi Kawabata, Hirofumi Komaki, Takashi Saito, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Yukiko K. Hayashi, Ichizo Nishino

, Mei Momomura, Toshitaka Kizawa, Tomoyuki Imagawa, Shumpei Yokota

A pediatric patient with myopathy associated with antibodies to a signal recognition particle

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

K. Sugie, Y. K. Hayashi, K. Goto, I. Nishino

, S. Ueno

Teaching NeuroImages: Unilateral arm and contralateral leg amyotrophy in FSHD: Unusual presentation

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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 Nishino

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

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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, Yasushi Oya, Yukiko K. Hayashi, May Christine V. Malicdan and 3 other authors

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

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Tomoko Komagamine, Mitsuru Kawai, Norito Kokubun, Satoko Miyatake, Katsuhisa Ogata, Yukiko K. Hayashi, Ichizo Nishino

, Koichi Hirata

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

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Valérie Biancalana, Alan H. Beggs, Soma Das, Heinz Jungbluth, Wolfram Kress, Ichizo Nishino

, Kathryn North, Norma B. Romero, Jocelyn Laporte

Clinical utility gene card for: Centronuclear and myotubular myopathies

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Rie S. Tsuburaya, Kazunari Monma, Yasushi Oya, Takahiro Nakayama, Tokiko Fukuda, Hideo Sugie, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

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Daniel J. Klionsky, Fabio C. Abdalla, Hagai Abeliovich, Robert T. Abraham, Abraham Acevedo-Arozena, Khosrow Adeli, Lotta Agholme, Maria Agnello, Patrizia Agostinis, Julio A. Aguirre-Ghiso, Hyung Jun Ahn, Ouardia Ait-Mohamed, Slimane Ait-Si-Ali, Takahiko Akematsu, Shizuo Akira and 1255 other authors

Guidelines for the use and interpretation of assays for monitoring autophagy

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Etsuko Keduka, Yukiko K. Hayashi, Sherine Shalaby, Hiroaki Mitsuhashi, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino

In Vivo Characterization of Mutant Myotilins

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Eri Kondo, Takafumi Nishimura, Tomoki Kosho, Yuji Inaba, Satomi Mitsuhashi, Takefumi Ishida, Atsushi Baba, Kenichi Koike, Ichizo Nishino

, Ikuya Nonaka, Toru Furukawa, Kayoko Saito

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

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Tomoko Sugiura, Yasushi Kawaguchi, Kanako Goto, Yukiko Hayashi, Rie Tsuburaya, Takefumi Furuya, Takahisa Gono, Ichizo Nishino

, Hisashi Yamanaka

Positive association betweenSTAT4polymorphisms and polymyositis/dermatomyositis in a Japanese population

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Steven E. Boyden, Lane J. Mahoney, Genri Kawahara, Jennifer A. Myers, Satomi Mitsuhashi, Elicia A. Estrella, Anna R. Duncan, Friederike Dey, Elizabeth T. DeChene, Jessica M. Blasko-Goehringer, Carsten G. Bönnemann, Basil T. Darras, Jerry R. Mendell, Hart G. W. Lidov, Ichizo Nishino

and 3 other authors

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

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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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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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Papers authored by Ichizo Nishino