Ichizo Nishino - Dissemin

Papers authored by Ichizo Nishino

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2013 Salvatore DiMauro, Ichizo Nishino

, Michio Hirano

Mitochondrial Myopathies

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W. Stenzel, I. Nishino

, A. von Moers, M. A. Kadry, D. Glaeser, F. L. Heppner, H.-H. Goebel

Juvenile autophagic vacuolar myopathy - a new entity or variant?

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T. Yonekawa, H. Komaki, M. Okada, Y. K. Hayashi, I. Nonaka, K. Sugai, M. Sasaki, I. Nishino

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

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Tai-Heng Chen, Yu-Hung Lai, Pei-Lun Lee, Jong-Hau Hsu, Kanako Goto, Yukiko K. Hayashi, Ichizo Nishino

, Chin-Wen Lin, Hsiang-Hung Shih, Chao-Ching Huang, Wen-Chen Liang, Wen-Fu Wang, Yuh-Jyh Jong

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment

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Charlotte Fischer, Konstanze Kleinschnitz, Arne Wrede, Ingrid Muth, Niels Kruse, Ichizo Nishino

, Jens Schmidt

Cell stress molecules in the skeletal muscle of GNE myopathy

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Takatoshi Sato, Yukiko K. Hayashi, Yasushi Oya, Tomoyoshi Kondo, Kazuma Sugie, Daita Kaneda, Hideki Houzen, Ichiro Yabe, Hidenao Sasaki, Satoru Noguchi, Ikuya Nonaka, Makiko Osawa, Ichizo Nishino

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

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W.-C. Liang, I. Nishino

Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients

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Nivetha Ramachandran, Iulia Munteanu, Peixiang Wang, Alessandra Ruggieri, Jennifer J. Rilstone, Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo, Zhi-Ping Ren, Ichizo Nishino

, Brigitte Chabrol, Jean-Francois Pellissier, Carlo Minetti, Bjarne Udd and 9 other authors

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

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Atchayaram Nalini, Ischizo Nishino

, Narayanappa Gayathri, YukikoK Hayashi

GNE myopathy in India

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Tsutomu Kamiyama, Renpei Sengoku, Masayuki Sasaki, Yukiko Hayashi, Ichizo Nishino

, Soichiro Mochio, Yasuyuki Iguchi

An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene

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Ichizo Nishino

New congenital muscular dystrophy due to CHKB mutations

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Shohei Fujimoto, Yasuhiro Manabe, Daiki Fujii, Yuko Kozai, Kosuke Matsuzono, Yoshiaki Takahashi, Hisashi Narai, Nobuhiko Omori, Kaori Adachi, Eiji Nanba, Ichizo Nishino

, Koji Abe

A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology

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Ryousuke Igari, Manabu Wada, Hiroyasu Sato, Yukiko K. Hayashi, Ichizo Nishino

, Takeo Kato

A case of inclusion body myopathy with Paget^|^apos;s disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease

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Yoshinori Endo, Masamichi Ikawa, Naoki Takahashi, Ichizo Nishino

, Shigeaki Suzuki, Makoto Yoneda

A case of systemic lupus erythematosus predominantly presenting with myositis at onset

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Madoka Mori-Yoshimura, Yasushi Oya, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino

, Miho Murata

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

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Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K. Hayashi, Ichizo Nishino

, Shin‘ichi Takeda, Mitsuru Kawai

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

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2012 Akiko Furuta, Koichi Wakabayashi, Joji Haratake, Hisae Kikuchi, Tomohiro Kabuta, Fumiaki Mori, Fusao Tokonami, Yukinori Katsumi, Fumihiko Tanioka, Yasuo Uchiyama, Ichizo Nishino

, Keiji Wada

Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease

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Kazunari Momma, Satoru Noguchi, May Christine V. Malicdan, Yukiko K. Hayashi, Narihiro Minami, Keiko Kamakura, Ikuya Nonaka, Ichizo Nishino

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

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Yosuke Kakisaka, Kazuhiro Haginoya, Yuko Takahashi, Tatsuhiro Ochiai, Ikuma Fujiwara, Atsuo Kikuchi, Keisuke Wakusawa, Satoru Kobayashi, Hirosato Kikuchi, Yasuko Ichihara, Shinichiro Takahashi, Ichizo Nishino

Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations

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Yoko Sangatsuda, Masayuki Nakamura, Akiyuki Tomiyasu, Akiko Deguchi, Yasutaka Toyota, Yu-Ichi Goto, Ichizo Nishino

, Shu-Ichi Ueno, Akira Sano

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

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Papers authored by Ichizo Nishino