Works matching AU Nonaka, Ikuya

Results: 136

Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.

Published in:

Clinical Endocrinology, 1996, v. 45, n. 5, p. 637, doi. 10.1046/j.1365-2265.1996.00856.x

By:

Isotani, Haruhiko;
Fukumoto, Yoshito;
Kawamura, Hiroshi;
Furukawa, Keizo;
Ohsawa, Nakaaki;
Goto, Yu-ichi;
Nishino, Ichizo;
Nonaka, Ikuya

Publication type:

Article

Diagnostic Significance of Membrane Attack Complex and Vitronectin in Childhood Dermatomyositis.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 7, p. 597, doi. 10.1177/08830738050200071201

By:

Sakuta, Ryoichi;
Murakami, Nobuyuki;
Jin, Yuko;
Nagai, Toshiro;
Nonaka, Ikuya;
Nishino, Ichizo

Publication type:

Article

Recurrent Muscle Weakness and Ataxia in Thiamine-Responsive Pyruvate Dehydrogenase Complex...

Published in:

Journal of Child Neurology, 1997, v. 12, n. 2, p. 141

By:

Kinoshita, Hirotoshi;
Sakuragawa, Norio;
Naito, Etsuo;
Nonaka, Ikuya

Publication type:

Article

Severe Central Nervous System Involvement in a Patient With Congenital Fiber-Type Disproportion Myopathy.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 1, p. 71, doi. 10.1177/088307389601100119

By:

Nakagawa, Eiji;
Ozawa, Matsuko;
Yamanouchi, Hideo;
Sugai, Kenji;
Goto, Yu-ichi;
Nonaka, Ikuya

Publication type:

Article

A T-to-G Mutation at Nucleotide Pair 8993 in Mitochondrial DNA in a Patient With Leigh's Syndrome.

Published in:

Journal of Child Neurology, 1993, v. 8, n. 2, p. 129, doi. 10.1177/088307389300800204

By:

Yoshinaga, Harumi;
Ogino, Tatsuya;
Ohtahara, Shunsuke;
Sakuta, Ryoichi;
Nonaka, Ikuya;
Horai, Satoshi

Publication type:

Article

Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy.

Published in:

Pathology International, 2003, v. 53, n. 10, p. 653, doi. 10.1046/j.1440-1827.2003.01541.x

By:

Nakada, Chisato;
Oka, Akira;
Nonaka, Ikuya;
Sato, Kenzo;
Mori, Shigeo;
Ito, Hisao;
Moriyama, Masatsugu

Publication type:

Article

Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.

Published in:

2011

By:

Tsuburaya, Rie;
Suzuki, Takateru;
Saiki, Ken;
Nonaka, Ikuya;
Sugita, Hideo;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Other

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8

By:

Yamashita, Shintaro;
Nishino, Ichizo;
Nonaka, Ikuya;
Goto, Yu-ichi

Publication type:

Article

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 2, p. 92, doi. 10.1007/s10038-003-0116-1

By:

Sudo, Akira;
Honzawa, Shiho;
Nonaka, Ikuya;
Goto, Yu-ichi

Publication type:

Article

Early Onset of Lipofuscin Accumulation in Dystrophin-Deficient Skeletal Muscles of DMD Patients and mdx Mice.

Published in:

Journal of Molecular Histology, 2004, v. 35, n. 5, p. 489, doi. 10.1023/B:HIJO.0000045947.83628.a7

By:

Nakae, Yoshiko;
Stoward, Peter;
Kashiyama, Tatsuo;
Shono, Masayuki;
Akagi, Akiko;
Matsuzaki, Tetsuya;
Nonaka, Ikuya

Publication type:

Article

The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy1.

Published in:

Journal of Biochemistry, 2002, v. 131, n. 5, p. 647, doi. 10.1093/oxfordjournals.jbchem.a003147

By:

Suzuki, Takashi;
Nakagawa, Masahiro;
Yoshikawa, Ayumu;
Sasagawa, Noboru;
Yoshimori, Tamotsu;
Ohsumi, Yoshinori;
Nishino, Ichizo;
Ishiura, Shoichi;
Nonaka, Ikuya

Publication type:

Article

Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle.

Published in:

Muscle & Nerve, 1987, v. 10, n. 9, p. 790, doi. 10.1002/mus.880100904

By:

Higuchi, Itsuro;
Ishiura, Shoichi;
Nonaka, Ikuya;
Sugita, Hideo

Publication type:

Article

Localization of calcium-activated neutral protease (CANP) in the peripheral nerve.

Published in:

1985

By:

Kamakura, Keiko;
Ishiura, Shoichi;
Fujita, Takehisa;
Nonaka, Ikuya;
Sugita, Hideo;
Kamakura, K;
Ishiura, S;
Fujita, T;
Nonaka, I;
Sugita, H

Publication type:

journal article

An electron microscopical study of the T-system in biopsied muscles from fukuyama type congenital muscular dystrophy.

Published in:

Muscle & Nerve, 1984, v. 7, n. 8, p. 629, doi. 10.1002/mus.880070806

By:

Miike, Teruhisa;
Ohtani, Yoshinobu;
Tamari, Hideo;
Ishitsu, Takateru;
Nonaka, Ikuya

Publication type:

Article

Regenerative capability of skeletal muscle in chicken muscular dystrophy.

Published in:

Muscle & Nerve, 1984, v. 7, n. 5, p. 400, doi. 10.1002/mus.880070510

By:

Nonaka, Ikuya;
Fujita, Takehisa;
Sugita, Hideo

Publication type:

Article

Malignant hyperthermia and related neuromuscular diseases: Caffeine contracture of the skinned muscle fibers.

Published in:

Muscle & Nerve, 1983, v. 6, n. 7, p. 510, doi. 10.1002/mus.880060707

By:

Takagi, Akio;
Sunohara, Nobuhiko;
Ishihara, Tadayuki;
Nonaka, Ikuya;
Sugita, Hideo

Publication type:

Article

Letters to the editor.

Published in:

Muscle & Nerve, 1983, v. 6, n. 1, p. 75, doi. 10.1002/mus.880060113

By:

Olney, Richard K.;
Miller, Robert G.;
Nonaka, Ikuya;
Sugita, Hideo;
Olson, Norman D.

Publication type:

Article

In vivo administration of a thiol protease inhibitor, E-64-C, to hereditary dystrophic chicken.

Published in:

Muscle & Nerve, 1982, v. 5, n. 9, p. 738, doi. 10.1002/mus.880050914

By:

Sugita, Hideo;
Kimura, Masaaki;
Tarumoto, Yasuo;
Tamai, Masaharu;
Hanada, Kazunori;
Ishiura, Shoichi;
Nonaka, Ikuya;
Ohzeki, Masahiro;
Imahori, Kazutomo

Publication type:

Article

Myosin light chain components in single muscle fibers of duchenne muscular dystrophy.

Published in:

Muscle & Nerve, 1982, v. 5, n. 5, p. 399, doi. 10.1002/mus.880050511

By:

Takagi, Akio;
Ishiura, Shoichi;
Nonaka, Ikuya;
Sugita, Hideo

Publication type:

Article

Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement.

Published in:

Muscle & Nerve, 1982, v. 5, n. 2, p. 102, doi. 10.1002/mus.880050204

By:

Nonaka, Ikuya;
Sugita, Hideo;
Takada, Kuniyasu;
Kumagai, Komei

Publication type:

Article

The significance of type 2C muscle fibers in duchenne muscular dystrophy.

Published in:

Muscle & Nerve, 1981, v. 4, n. 4, p. 326, doi. 10.1002/mus.880040409

By:

Nonaka, Ikuya;
Takagi, Akio;
Sugita, Hideo

Publication type:

Article

Duchenne muscular dystrophy: Unusual activation of single fibers in vitro.

Published in:

Muscle & Nerve, 1981, v. 4, n. 1, p. 10, doi. 10.1002/mus.880040104

By:

Takagi, Akio;
Nonaka, Ikuya

Publication type:

Article

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 176, doi. 10.1038/82826

By:

Inoue, Kimiko;
Nakada, Kazuto;
Ogura, Atsuo;
Isobe, Kotoyo;
Goto, Yu-ichi;
Nonaka, Ikuya;
Hayashi, Jun-Ichi

Publication type:

Article

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Published in:

2009

By:

Hayashi, Yukiko K.;
Matsuda, Chie;
Ogawa, Megumu;
Goto, Kanako;
Tominaga, Kayo;
Mitsuhashi, Satomi;
Young-Eun Park;
Nonaka, Ikuya;
Hino-Fukuyo, Naomi;
Haginoya, Kazuhiro;
Sugano, Hisashi;
Nishino, Ichizo;
Park, Young-Eun

Publication type:

journal article

Altered Expression of ARPP Protein in Skeletal Muscles of Patients with Muscular Dystrophy, Congenital Myopathy and Spinal Muscular Atrophy.

Published in:

Pathobiology, 2004, v. 71, n. 1, p. 43, doi. 10.1159/000072961

By:

Nakada, Chisato;
Tsukamoto, Yoshiyuki;
Oka, Akira;
Nonaka, Ikuya;
Sato, Kenzo;
Mori, Shigeo;
Ito, Hisao;
Moriyama, Masatsugu

Publication type:

Article

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.

Published in:

2017

By:

Mori‐Yoshimura, Madoka;
Segawa, Kazuhiko;
Minami, Narihiro;
Oya, Yasushi;
Komaki, Hirohumi;
Nonaka, Ikuya;
Nishino, Ichizo;
Murata, Miho;
Mori-Yoshimura, Madoka

Publication type:

journal article

Respiratory and cardiac function in japanese patients with dysferlinopathy.

Published in:

2016

By:

Nishikawa, Atsuko;
Mori‐Yoshimura, Madoka;
Segawa, Kazuhiko;
Hayashi, Yukiko K.;
Takahashi, Toshiaki;
Saito, Yuko;
Nonaka, Ikuya;
Krahn, Martin;
Levy, Nicolas;
Shimizu, Jun;
Mitsui, Jun;
Kimura, En;
Goto, Jun;
Yonemoto, Naohiro;
Aoki, Masashi;
Nishino, Ichizo;
Oya, Yasushi;
Murata, Miho

Publication type:

journal article

Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271.

Published in:

1996

By:

Suzuki, Yoshihiko;
Tsukuda, Katsunori;
Atsumi, Yoshihito;
Goto, Yuichi;
Hosokawa, Kazuhiro;
Asahani, Takayuki;
Nonaka, Ikuya;
Matsuoka, Kempei;
Oka, Yositomo;
Suzuki, Y;
Tsukuda, K;
Atsumi, Y;
Goto, Y;
Hosokawa, K;
Asahina, T;
Nonaka, I;
Matsuoka, K;
Oka, Y

Publication type:

Case Study

A Nationwide Survey on Danon Disease in Japan.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3507, doi. 10.3390/ijms19113507

By:

Sugie, Kazuma;
Komaki, Hirofumi;
Eura, Nobuyuki;
Shiota, Tomo;
Onoue, Kenji;
Tsukaguchi, Hiroyasu;
Minami, Narihiro;
Ogawa, Megumu;
Kiriyama, Takao;
Kataoka, Hiroshi;
Saito, Yoshihiko;
Nonaka, Ikuya;
Nishino, Ichizo

Publication type:

Article

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

Published in:

2012

By:

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

Publication type:

Letter

Schwann cell myelination occurred without basal lamina formation in laminin α2 chain-null mutant ( dy<sup>3K</sup>/ dy<sup>3K</sup>) mice.

Published in:

Glia (0894-1491), 2001, v. 35, n. 2, p. 101, doi. 10.1002/glia.1075

By:

Nakagawa, Masahiro;
Miyagoe-Suzuki, Yuko;
Ikezoe, Koji;
Miyata, Yuhei;
Nonaka, Ikuya;
Harii, Kiyonori;
Takeda, Shin'Ichi

Publication type:

Article

Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.

Published in:

Nature, 1988, v. 333, n. 6176, p. 861, doi. 10.1038/333861a0

By:

Arahata, Kiichi;
Ishiura, Shoichi;
Ishiguro, Tsuneo;
Tsukahara, Toshifumi;
Suhara, Yoshihiro;
Eguchi, Chikahiko;
Ishiharat, Tadayuki;
Nonaka, Ikuya;
Ozawa, Eijiro;
Sugita, Hideo

Publication type:

Article

Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest.

Published in:

Pediatrics International, 2011, v. 53, n. 2, p. 159, doi. 10.1111/j.1442-200X.2010.03211.x

By:

Kawashima, Hisashi;
Ishii, Chiako;
Yamanaka, Gaku;
Ioi, Hiroaki;
Nishimata, Shigeo;
Kashiwagi, Yasuyo;
Takekuma, Kouji;
Miyajima, Tasuku;
Hoshika, Akinori;
Nishino, Ichizo;
Nonaka, Ikuya

Publication type:

Article

Severe infantile myotubular myopathy with complete atrioventricular block.

Published in:

Pediatrics International, 2008, v. 50, n. 5, p. 698, doi. 10.1111/j.1442-200X.2008.02719.x

By:

Hikita, Toshiyuki;
Wakita, Suguru;
Mori, Yosuke;
Nakamoto, Natsue;
Takeda, Goichi;
Akiyama, Kaori;
Ogita, Kaori;
Irie, Hiroshi;
Fukusato, Toshio;
Nonaka, Ikuya;
Yanagawa, Yukishige

Publication type:

Article

Progressive Muscular Dystrophy with Particular Reference to Muscle Regeneration.

Published in:

Pediatrics International, 1991, v. 33, n. 2, p. 222, doi. 10.1111/j.1442-200X.1991.tb01547.x

By:

Nonaka, Ikuya

Publication type:

Article

MELAS, Myoclonus, Ataxia and Deficiencies of Complexes I and IV in Muscle Mitochondria.

Published in:

Pediatrics International, 1987, v. 29, n. 5, p. 761, doi. 10.1111/j.1442-200X.1987.tb00375.x

By:

Yamanaka, Reiko;
Nomura, Yoshiko;
Segawa, Masaya;
Nonaka, Ikuya

Publication type:

Article

McArdle Disease: Familial Variety of Muscle Phosphorylase Activity in Two Siblings.

Published in:

Pediatrics International, 1984, v. 26, n. 1, p. 10, doi. 10.1111/j.1442-200X.1984.tb00593.x

By:

Maekawa, Kihei;
Shimizu, Hiroshi;
Eto, Yoshikatsu;
Nonaka, Ikuya

Publication type:

Article

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 2, p. 115, doi. 10.1093/hmg/ddl446

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 8, p. 1279, doi. 10.1093/hmg/ddl045

By:

Taniguchi, Mariko;
Kurahashi, Hiroki;
Noguchi, Satoru;
Fukudome, Takayasu;
Okinaga, Takeshi;
Tsukahara, Toshifumi;
Tajima, Youichi;
Ozono, Keiichi;
Nishino, Ichizo;
Nonaka, Ikuya;
Toda, Tatsushi

Publication type:

Article

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1761, doi. 10.1093/hmg/10.17.1761

By:

Matsuda, Chie;
Hayashi, Yukiko K.;
Ogawa, Megumu;
Aoki, Masashi;
Murayama, Kumiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Arahata, Kiichi;
Brown, Jr., Robert H.

Publication type:

Article

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1

By:

Matsuda, Chie;
Hayashi, Yukiko K.;
Ogawa, Megumu;
Aoki, Masashi;
Murayama, Kumiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Arahata, Kiichi;
Brown, Jr., Robert H.

Publication type:

Article

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1393

By:

Tagawa, Kazuhiko;
Taya, Choji;
Hayashi, Yukiko;
Nakagawa, Masahiro;
Ono, Yasuko;
Fukuda, Rie;
Karasuyama, Hajime;
Toyama-Sorimachi, Noriko;
Katsui, Yukiko;
Hata, Shoji;
Ishiura, Shoichi;
Nonaka, Ikuya;
Seyama, Yosuke;
Arahata, Kiichi;
Yonekawa, Hiromichi;
Sorimachi, Hiroyuki

Publication type:

Article

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 493, doi. 10.1093/hmg/8.3.493

By:

Surono, Agus;
Takeshima, Yasuhiro;
Wibawa, Tri;
Ikezawa, Makoto;
Nonaka, Ikuya;
Matsuo, Masafumi

Publication type:

Article

Dp260 Disrupted Mice Revealed Prolonged Implicit Time of the b-Wave in ERG and Loss of Accumulation of β-Dystroglycan in the Outer Plexiform Layer of the Retina.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2195, doi. 10.1093/hmg/6.13.2195

By:

Kameya, Shuhei;
Araki, Eiichi;
Katsuki, Motoya;
Mizota, Atsushi;
Adachi, Emiko;
Nakahara, Kiyoshi;
Nonaka, Ikuya;
Sakuragi, Shozo;
Takeda, Shin'ichi;
Nabeshima, Yo-ichi

Publication type:

Article

Actin mutations are one cause of congenital fibre type disproportion.

Published in:

Annals of Neurology, 2004, v. 56, n. 5, p. 689

By:

Nigel G. Laing;
Nigel F. Clarke;
Danielle E. Dye;
Khema Liyanage;
Kendall R. Walker;
Yasuaki Kobayashi;
Shuichi Shimakawa;
Tohru Hagiwara;
Robert Ouvrier;
John C. Sparrow;
Ichizo Nishino;
Kathryn N. North;
Ikuya Nonaka

Publication type:

Article

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

Published in:

Annals of Neurology, 2002, v. 51, n. 5, p. 645, doi. 10.1002/ana.10172

By:

Komaki, Hirofumi;
Fukazawa, Toshiyuki;
Houzen, Hideki;
Yoshida, Kazuto;
Nonaka, Ikuya;
Goto, Yu-Ichi

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

Published in:

2000

By:

Nishino, Ichizo;
Spinazzola, Antonella;
Papadimitriou, Alexandros;
Hammans, Simon;
Steiner, Israel;
Hahn, Cecil D.;
Connolly, Anne M.;
Verloes, Alain;
Guimarães, João;
Maillard, Ivan;
Hamano, Hitoshi;
Donati, M. Alice;
Semrad, Carol E.;
Russell, James A.;
Andreu, Antonio L.;
Hadjigeorgiou, Giorgos M.;
Vu, Tuan H.;
Tadesse, Saba;
Nygaard, Torbjoern G.;
Nonaka, Ikuya

Publication type:

journal article

A novel congenital myopathy with apoptotic changes.

Published in:

Annals of Neurology, 2000, v. 47, n. 4, p. 531, doi. 10.1002/1531-8249(200004)47:4<531::AID-ANA21>3.0.CO;2-S

By:

Ikezoe, Koji;
Yan, Chuanzhu;
Momoi, Takashi;
Imoto, Chikako;
Minami, Narihiro;
Ariga, Masamichi;
Nihei, Kenji;
Nonaka, Ikuya

Publication type:

Article