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Ichizo Nishino

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Anatomy

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Publications

TOP 3
Hayashi Yukiko K; Matsuda Chie; Ogawa Megumu; Goto Kanako; Tominaga Kayo; Mitsuhashi Satomi; Park Young-Eun; Nonaka Ikuya; Hino-Fukuyo Naomi; Haginoya Kazuhiro; Sugano Hisashi; Nishino Ichizo
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Liewluck Teerin; Pongpakdee Sunsanee; Witoonpanich Rawiphan; Sangruchi Tumtip; Pho-Iam Theeraphong; Limwongse Chanin; Thongnoppakhun Wanna; Boonyapisit Kanokwan; Sopassathit Varisa; Phudhichareonrat Suchart; Suthiponpaisan Udom; Raksadawan Natte; Goto Kanako; Hayashi Yukiko K; Nishino Ichizo
Novel DYSF mutations in Thai patients with distal myopathy.
Park Young-Eun; Hayashi Yukiko K; Bonne Gisèle; Arimura Takuro; Noguchi Satoru; Nonaka Ikuya; Nishino Ichizo
Autophagic degradation of nuclear components in mammalian cells.

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All Publications

2009: Hayashi Yukiko K; Matsuda Chie; Ogawa Megumu; Goto Kanako; Tominaga Kayo; Mitsuhashi Satomi; Park Young-Eun; Nonaka Ikuya; Hino-Fukuyo Naomi; Haginoya Kazuhiro; Sugano Hisashi; Nishino Ichizo
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
The Journal of clinical investigation 2009;119(9):2623-33.
2009: Liewluck Teerin; Pongpakdee Sunsanee; Witoonpanich Rawiphan; Sangruchi Tumtip; Pho-Iam Theeraphong; Limwongse Chanin; Thongnoppakhun Wanna; Boonyapisit Kanokwan; Sopassathit Varisa; Phudhichareonrat Suchart; Suthiponpaisan Udom; Raksadawan Natte; Goto Kanako; Hayashi Yukiko K; Nishino Ichizo
Novel DYSF mutations in Thai patients with distal myopathy.
Clinical neurology and neurosurgery 2009;111(7):613-8.
2009: Park Young-Eun; Hayashi Yukiko K; Bonne Gisèle; Arimura Takuro; Noguchi Satoru; Nonaka Ikuya; Nishino Ichizo
Autophagic degradation of nuclear components in mammalian cells.
Autophagy 2009;5(6):795-804.
2009: Arai Asako; Mitsuhashi Satomi; Saito Yoshiaki; Komaki Hirofumi; Sakuma Hiroshi; Nakagawa Eiji; Sugai Kenji; Sasaki Masayuki; Robertson Stephen P; Nishimura Gen; Yamamoto Toshiyuki; Nonaka Ikuya; Nishino Ichizo
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
Neuromuscular disorders : NMD 2009;19(7):485-8.
2009: Shalaby Sherine; Mitsuhashi Hiroaki; Matsuda Chie; Minami Narihiro; Noguchi Satoru; Nonaka Ikuya; Nishino Ichizo; Hayashi Yukiko K
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
Journal of neuropathology and experimental neurology 2009;68(6):701-7.
2009: Malicdan May Christine V; Noguchi Satoru; Hayashi Yukiko K; Nonaka Ikuya; Nishino Ichizo
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
Nature medicine 2009;15(6):690-5.
2009: Murakami Terumi; Hayashi Yukiko K; Ogawa Megumu; Noguchi Satoru; Campbell Kevin P; Togawa Masami; Inoue Takehiko; Oka Akira; Ohno Kousaku; Nonaka Ikuya; Nishino Ichizo
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
Brain & development 2009;31(6):465-8.
2009: Migita T; Mukaida K; Hamada H; Kobayashi M; Nishino I; Yuge O; Kawamoto M
Effects of propofol on calcium homeostasis in human skeletal muscle.
Anaesthesia and intensive care 2009;37(3):415-25.
2009: Fujii Katsunori; Minami Narihiro; Hayashi Yukiko; Nishino Ichizo; Nonaka Ikuya; Tanabe Yuzo; Takanashi Jun-ichi; Kohno Yoichi
Homozygous female Becker muscular dystrophy.
American journal of medical genetics. Part A 2009;149A(5):1052-5.
2009: Nakao Koichi; Yazawa Shogo; Hayashi Yukiko K; Nishino Ichizo; Shiomi Kazutaka; Nakazato Masamitsu
[Late-onset sarcoglycanopathy: a cause of repeated muscle cramps after exertion]
Rinsho shinkeigaku = Clinical neurology 2009;49(4):167-71.
2009: Mimaki Masakazu; Hatakeyama Hideyuki; Ichiyama Takashi; Isumi Hiroshi; Furukawa Susumu; Akasaka Manami; Kamei Atsushi; Komaki Hirofumi; Nishino Ichizo; Nonaka Ikuya; Goto Yu-ichi
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.
Mitochondrion 2009;9(2):115-22.
2009: Ramachandran Nivetha; Munteanu Iulia; Wang Peixiang; Aubourg Pauline; Rilstone Jennifer J; Israelian Nyrie; Naranian Taline; Paroutis Paul; Guo Ray; Ren Zhi-Ping; Nishino Ichizo; Chabrol Brigitte; Pellissier Jean-Francois; Minetti Carlo; Udd Bjarne; Fardeau Michel; Tailor Chetankumar S; Mahuran Don J; Kissel John T; Kalimo Hannu; Levy Nicolas; Manolson Morris F; Ackerley Cameron A; Minassian Berge A
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Cell 2009;137(2):235-46.
2009: Liang Wen-Chen; Ohkuma Aya; Hayashi Yukiko K; López Luis Carlos; Hirano Michio; Nonaka Ikuya; Noguchi Satoru; Chen Liang-Hui; Jong Yuh-Jyh; Nishino Ichizo
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Neuromuscular disorders : NMD 2009;19(3):212-6.
2009: Ohkuma Aya; Noguchi Satoru; Sugie Hideo; Malicdan May Christine V; Fukuda Tokiko; Shimazu Kunio; López Luis Carlos; Hirano Michio; Hayashi Yukiko K; Nonaka Ikuya; Nishino Ichizo
Clinical and genetic analysis of lipid storage myopathies.
Muscle & nerve 2009;39(3):333-42.
2009: Dougu Nobuhiro; Joho Shuji; Shan Lishen; Shida Takuya; Matsuki Akira; Uese Keiichiro; Hirono Keiichi; Ichida Fukiko; Tanaka Kortaro; Nishino Ichizo; Inoue Hiroshi
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
Circulation journal : official journal of the Japanese Circulation Society 2009;73(2):376-80.
2009: López Luis C; Akman Hasan O; García-Cazorla Angeles; Dorado Beatriz; Martí Ramón; Nishino Ichizo; Tadesse Saba; Pizzorno Giuseppe; Shungu Dikoma; Bonilla Eduardo; Tanji Kurenai; Hirano Michio
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Human molecular genetics 2009;18(4):714-22.
2009: Shalaby S; Hayashi Y K; Nonaka I; Noguchi S; Nishino I
Novel FHL1 mutations in fatal and benign reducing body myopathy.
Neurology 2009;72(4):375-6.
2009: Park Young-Eun; Hayashi Yukiko K; Goto Kanako; Komaki Hirofumi; Hayashi Yuichi; Inuzuka Takashi; Noguchi Satoru; Nonaka Ikuya; Nishino Ichizo
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.
Neuromuscular disorders : NMD 2009;19(1):29-36.
2009: Arimura Takuro; Hayashi Yukiko K; Murakami Terumi; Oya Yasushi; Funabe Sayaka; Arikawa-Hirasawa Eri; Hattori Nobutaka; Nishino Ichizo; Kimura Akinori
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
Circulation journal : official journal of the Japanese Circulation Society 2009;73(1):158-61.
2009: Migita Takako; Mukaida Keiko; Hamada Hiroshi; Yasuda Toshimichi; Haraki Toshiaki; Nishino Ichizo; Murakami Nobuyuki; Kawamoto Masashi
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.
Journal of anesthesia 2009;23(3):341-6.
2009: Malicdan May Christine V; Noguchi Satoru; Nishino Ichizo
Monitoring autophagy in muscle diseases.
Methods in enzymology 2009;453():379-96.
2008: Shalaby Sherine; Hayashi Yukiko K; Goto Kanako; Ogawa Megumu; Nonaka Ikuya; Noguchi Satoru; Nishino Ichizo
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
Neuromuscular disorders : NMD 2008;18(12):959-61.
2008: Murakami Terumi; Nishino Ichizo
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]
Brain and nerve = Shinkei kenkyu no shinpo 2008;60(10):1159-64.
2008: Malicdan May Christine V; Noguchi Satoru; Nishino Ichizo
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Current opinion in neurology 2008;21(5):596-600.
2008: Shirafuji Toshihiko; Otsuka Yoshihisa; Kobessho Hiroshi; Minami Narihiro; Hayashi Yukiko; Nishino Ichizo; Kanda Fumio
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]
Rinsho shinkeigaku = Clinical neurology 2008;48(9):651-5.
2008: Kawahara Genri; Ogawa Megumu; Okada Mari; Malicdan May Christine V; Goto Yu-Ichi; Hayashi Yukiko K; Noguchi Satoru; Nishino Ichizo
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
Muscle & nerve 2008;38(3):1192-5.
2008: Malicdan May Christine V; Noguchi Satoru; Hayashi Yukiko K; Nishino Ichizo
Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.
Physiological genomics 2008;35(1):106-15.
2008: Ohkuma Aya; Nonaka Ikuya; Malicdan May Christine V; Noguchi Satoru; Ohji Satoru; Nomura Kyoichi; Sugie Hideo; Hayashi Yukiko K; Nishino Ichizo
Distal lipid storage myopathy due to PNPLA2 mutation.
Neuromuscular disorders : NMD 2008;18(8):671-4.
2008: Fujimura-Kiyono Chieko; Racz Gabor Z; Nishino Ichizo
Myotubular/centronuclear myopathy and central core disease.
Neurology India 2008;56(3):325-32.
2008: Malicdan May Christine; Noguchi Satoru; Nonaka Ikuya; Saftig Paul; Nishino Ichizo
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.
Neuromuscular disorders : NMD 2008;18(7):521-9.
2008: Matsuda Chie; Kameyama Kimihiko; Suzuki Atsushi; Mishima Wataru; Yamaji Satoshi; Okamoto Harumasa; Nishino Ichizo; Hayashi Yukiko K
Affixin activates Rac1 via betaPIX in C2C12 myoblast.
FEBS letters 2008;582(8):1189-96.
2008: Mitsuhashi Hiroaki; Futai Eugene; Sasagawa Noboru; Hayashi Yukiko; Nishino Ichizo; Ishiura Shoichi
Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells.
Journal of neurochemistry 2008;105(1):101-12.
2008: Klionsky Daniel J; Abeliovich Hagai; Agostinis Patrizia; Agrawal Devendra K; Aliev Gjumrakch; Askew David S; Baba Misuzu; Baehrecke Eric H; Bahr Ben A; Ballabio Andrea; Bamber Bruce A; Bassham Diane C; Bergamini Ettore; Bi Xiaoning; Biard-Piechaczyk Martine; Blum Janice S; Bredesen Dale E; Brodsky Jeffrey L; Brumell John H; Brunk Ulf T; Bursch Wilfried; Camougrand Nadine; Cebollero Eduardo; Cecconi Francesco; Chen Yingyu; Chin Lih-Shen; Choi Augustine; Chu Charleen T; Chung Jongkyeong; Clarke Peter G H; Clark Robert S B; Clarke Steven G; Clavé Corinne; Cleveland John L; Codogno Patrice; Colombo María I; Coto-Montes Ana; Cregg James M; Cuervo Ana Maria; Debnath Jayanta; Demarchi Francesca; Dennis Patrick B; Dennis Phillip A; Deretic Vojo; Devenish Rodney J; Di Sano Federica; Dice J Fred; Difiglia Marian; Dinesh-Kumar Savithramma; Distelhorst Clark W; Djavaheri-Mergny Mojgan; Dorsey Frank C; Dröge Wulf; Dron Michel; Dunn William A; Duszenko Michael; Eissa N Tony; Elazar Zvulun; Esclatine Audrey; Eskelinen Eeva-Liisa; Fésüs László; Finley Kim D; Fuentes José M; Fueyo Juan; Fujisaki Kozo; Galliot Brigitte; Gao Fen-Biao; Gewirtz David A; Gibson Spencer B; Gohla Antje; Goldberg Alfred L; Gonzalez Ramon; González-Estévez Cristina; Gorski Sharon; Gottlieb Roberta A; Häussinger Dieter; He You-Wen; Heidenreich Kim; Hill Joseph A; Høyer-Hansen Maria; Hu Xun; Huang Wei-Pang; Iwasaki Akiko; Jäättelä Marja; Jackson William T; Jiang Xuejun; Jin Shengkan; Johansen Terje; Jung Jae U; Kadowaki Motoni; Kang Chanhee; Kelekar Ameeta; Kessel David H; Kiel Jan A K W; Kim Hong Pyo; Kimchi Adi; Kinsella Timothy J; Kiselyov Kirill; Kitamoto Katsuhiko; Knecht Erwin; Komatsu Masaaki; Kominami Eiki; Kondo Seiji; Kovács Attila L; Kroemer Guido; Kuan Chia-Yi; Kumar Rakesh; Kundu Mondira; Landry Jacques; Laporte Marianne; Le Weidong; Lei Huan-Yao; Lenardo Michael J; Levine Beth; Lieberman Andrew; Lim Kah-Leong; Lin Fu-Cheng; Liou Willisa; Liu Leroy F; Lopez-Berestein Gabriel; López-Otín Carlos; Lu Bo; Macleod Kay F; Malorni Walter; Martinet Wim; Matsuoka Ken; Mautner Josef; Meijer Alfred J; Meléndez Alicia; Michels Paul; Miotto Giovanni; Mistiaen Wilhelm P; Mizushima Noboru; Mograbi Baharia; Monastyrska Iryna; Moore Michael N; Moreira Paula I; Moriyasu Yuji; Motyl Tomasz; Münz Christian; Murphy Leon O; Naqvi Naweed I; Neufeld Thomas P; Nishino Ichizo; Nixon Ralph A; Noda Takeshi; Nürnberg Bernd; Ogawa Michinaga; Oleinick Nancy L; Olsen Laura J; Ozpolat Bulent; Paglin Shoshana; Palmer Glen E; Papassideri Issidora; Parkes Miles; Perlmutter David H; Perry George; Piacentini Mauro; Pinkas-Kramarski Ronit; Prescott Mark; Proikas-Cezanne Tassula; Raben Nina; Rami Abdelhaq; Reggiori Fulvio; Rohrer Bärbel; Rubinsztein David C; Ryan Kevin M; Sadoshima Junichi; Sakagami Hiroshi; Sakai Yasuyoshi; Sandri Marco; Sasakawa Chihiro; Sass Miklós; Schneider Claudio; Seglen Per O; Seleverstov Oleksandr; Settleman Jeffrey; Shacka John J; Shapiro Irving M; Sibirny Andrei; Silva-Zacarin Elaine C M; Simon Hans-Uwe; Simone Cristiano; Simonsen Anne; Smith Mark A; Spanel-Borowski Katharina; Srinivas Vickram; Steeves Meredith; Stenmark Harald; Stromhaug Per E; Subauste Carlos S; Sugimoto Seiichiro; Sulzer David; Suzuki Toshihiko; Swanson Michele S; Tabas Ira; Takeshita Fumihiko; Talbot Nicholas J; Tallóczy Zsolt; Tanaka Keiji; Tanaka Kozo; Tanida Isei; Taylor Graham S; Taylor J Paul; Terman Alexei; Tettamanti Gianluca; Thompson Craig B; Thumm Michael; Tolkovsky Aviva M; Tooze Sharon A; Truant Ray; Tumanovska Lesya V; Uchiyama Yasuo; Ueno Takashi; Uzcátegui Néstor L; van der Klei Ida; Vaquero Eva C; Vellai Tibor; Vogel Michael W; Wang Hong-Gang; Webster Paul; Wiley John W; Xi Zhijun; Xiao Gutian; Yahalom Joachim; Yang Jin-Ming; Yap George; Yin Xiao-Ming; Yoshimori Tamotsu; Yu Li; Yue Zhenyu; Yuzaki Michisuke; Zabirnyk Olga; Zheng Xiaoxiang; Zhu Xiongwei; Deter Russell L
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes.
Autophagy 2008;4(2):151-75.
2008: Tuñón T; Guerrero D; Urchaga A; Nishino I; Ayuso T; Matsuda Y; Caballero M C; Berjón J; Imizcoz M A
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
Neuromuscular disorders : NMD 2008;18(2):167-74.
2008: Sato I; Wu S; Ibarra M C A; Hayashi Y K; Fujita H; Tojo M; Oh S J; Nonaka I; Noguchi S; Nishino I
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
Neurology 2008;70(2):114-22.
2008: Yamashita Shintaro; Nishino Ichizo; Nonaka Ikuya; Goto Yu-Ichi
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
Journal of human genetics 2008;53(7):598-606.
2008: Oishi Minoru; Miki Kenji; Morita Akihiko; Fujioka Kazumi; Aoki Shigeki; Nishino Ichizo; Nonaka Ikuya; Goto Yu-ichi; Mizutani Tomohiko
Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.
Internal medicine (Tokyo, Japan) 2008;47(5):441-4.
2008: Tanabe Takahiro; Fukusaki Makoto; Terao Yoshiaki; Yamashita Kazunori; Sumikawa Koji; Mukaida Keiko; Ibarra Carlos A; Nishino Ichizo
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.
Journal of anesthesia 2008;22(1):70-3.
2008: Okahashi Satomi; Ogawa Go; Suzuki Mikiya; Ogata Katsuhisa; Nishino Ichizo; Kawai Mitsuru
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.
Internal medicine (Tokyo, Japan) 2008;47(4):305-7.
2007: Malicdan M C V; Noguchi S; Nishino I
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(3):171-5.
2007: Astejada M N; Goto K; Nagano A; Ura S; Noguchi S; Nonaka I; Nishino I; Hayashi Y K
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(3):159-64.
2007: Migita T; Mukaida K; Kawamoto M; Kobayashi M; Nishino I; Yuget O
Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers.
Anaesthesia and intensive care 2007;35(6):894-8.
2007: Malicdan May Christine V; Noguchi Satoru; Nonaka Ikuya; Hayashi Yukiko K; Nishino Ichizo
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Human molecular genetics 2007;16(22):2669-82.
2007: Eisenberg Iris; Eran Alal; Nishino Ichizo; Moggio Maurizio; Lamperti Costanza; Amato Anthony A; Lidov Hart G; Kang Peter B; North Kathryn N; Mitrani-Rosenbaum Stella; Flanigan Kevin M; Neely Lori A; Whitney Duncan; Beggs Alan H; Kohane Isaac S; Kunkel Louis M
Distinctive patterns of microRNA expression in primary muscular disorders.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(43):17016-21.
2007: Kawahara G; Okada M; Morone N; Ibarra C A; Nonaka I; Noguchi S; Hayashi Y K; Nishino I
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
Neurology 2007;69(10):1043-9.
2007: Okada M; Kawahara G; Noguchi S; Sugie K; Murayama K; Nonaka I; Hayashi Y K; Nishino I
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.
Neurology 2007;69(10):1035-42.
2007: Aoki J; Yasuno T; Sugie H; Kido H; Nishino I; Shigematsu Y; Kanazawa M; Takayanagi M; Kumami M; Endo K; Kaneoka H; Yamaguchi M; Fukuda T; Yamamoto T
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
Neurology 2007;69(8):804-6.
2007: Ura Shigehisa; Hayashi Yukiko K; Goto Kanako; Astejada Mina Nolasco; Murakami Terumi; Nagato Masako; Ohta Shigeru; Daimon Yasuhisa; Takekawa Hidehiro; Hirata Koichi; Nonaka Ikuya; Noguchi Satoru; Nishino Ichizo
Limb-girdle muscular dystrophy due to emerin gene mutations.
Archives of neurology 2007;64(7):1038-41.
2007: Matsubara E; Tsuchiya A; Minami N; Nishino I; Pappolla M A; Shoji M; Abe K
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2007;14(7):819-22.
2007: Malicdan May Christine V; Noguchi Satoru; Nishino Ichizo
Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Autophagy 2007;3(4):396-8.
2007: Lin Yi-Ching; Murakami Terumi; Hayashi Yukiko K; Nishino Ichizo; Nonaka Ikuya; Yuo Chung-Yee; Jong Yuh-Jyh
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
Brain & development 2007;29(4):234-8.
2007: Nezu Yuriko; Kino Yoshihiro; Sasagawa Noboru; Nishino Ichizo; Ishiura Shoichi
Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy.
Neuromuscular disorders : NMD 2007;17(4):306-12.
2007: Keira Yoko; Noguchi Satoru; Kurokawa Rumi; Fujita Masako; Minami Narihiro; Hayashi Yukiko K; Kato Takashi; Nishino Ichizo
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Neuroscience research 2007;57(4):513-21.
2007: Liewluck Teerin; Hayashi Yukiko K; Ohsawa Maki; Kurokawa Rumi; Fujita Masako; Noguchi Satoru; Nonaka Ikuya; Nishino Ichizo
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.
Muscle & nerve 2007;35(3):322-6.
2007: Ohsawa Maki; Liewluck Teerin; Ogata Katuhisa; Iizuka Takahiro; Hayashi Yukiko; Nonaka Ikuya; Sasaki Masayuki; Nishino Ichizo
Familial reducing body myopathy.
Brain & development 2007;29(2):112-6.
2007: Watanabe Noriyuki; Sasaoka Toshikuni; Noguchi Satoru; Nishino Ichizo; Tanaka Torahiko
Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association.
Genes to cells : devoted to molecular & cellular mechanisms 2007;12(1):75-88.
2007: Malicdan May Christine V; Noguchi Satoru; Nonaka Ikuya; Hayashi Yukiko K; Nishino Ichizo
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Human molecular genetics 2007;16(2):115-28.
2007: Nishino Ichizo
Lysosomal myopathies.
Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2007;86():205-14.
2007: Sugimoto Seiichiro; Shiomi Kazutaka; Yamamoto Ayaka; Nishino Ichizo; Nonaka Ikuya; Ohi Takekazu
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.
Internal medicine (Tokyo, Japan) 2007;46(11):757-60.
2006: Fukami Maki; Wada Yuka; Miyabayashi Kanako; Nishino Ichizo; Hasegawa Tomonobu; Nordenskjöld Agneta; Camerino Giovanna; Kretz Christine; Buj-Bello Anna; Laporte Jocelyn; Yamada Gen; Morohashi Ken-Ichirou; Ogata Tsutomu
CXorf6 is a causative gene for hypospadias.
Nature genetics 2006;38(12):1369-71.
2006: Liewluck Teerin; Pho-Iam Theeraphong; Limwongse Chanin; Thongnoppakhun Wanna; Boonyapisit Kanokwan; Raksadawan Natte; Murayama Kumiko; Hayashi Yukiko K; Nishino Ichizo; Sangruchi Tumtip
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
Muscle & nerve 2006;34(6):775-8.
2006: Murakami Terumi; Hayashi Yukiko K; Noguchi Satoru; Ogawa Megumu; Nonaka Ikuya; Tanabe Yuzo; Ogino Mieko; Takada Fumio; Eriguchi Makoto; Kotooka Norihiko; Campbell Kevin P; Osawa Makiko; Nishino Ichizo
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
Annals of neurology 2006;60(5):597-602.
2006: Miura Shinji; Tomitsuka Eriko; Kamei Yasutomi; Yamazaki Tomomi; Kai Yuko; Tamura Mayumi; Kita Kiyoshi; Nishino Ichizo; Ezaki Osamu
Overexpression of peroxisome proliferator-activated receptor gamma co-activator-1alpha leads to muscle atrophy with depletion of ATP.
The American journal of pathology 2006;169(4):1129-39.
2006: Hirano M; Martí R; Casali C; Tadesse S; Uldrick T; Fine B; Escolar D M; Valentino M L; Nishino I; Hesdorffer C; Schwartz J; Hawks R G; Martone D L; Cairo M S; DiMauro S; Stanzani M; Garvin J H; Savage D G
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
Neurology 2006;67(8):1458-60.
2006: Wallefeld William; Krause Sabine; Nowak Kristen J; Dye Danielle; Horváth Rita; Molnár Zoltán; Szabó Miklós; Hashimoto Kazuhiro; Reina Cristina; De Carlos Jose; Rosell Jordi; Cabello Ana; Navarro Carmen; Nishino Ichizo; Lochmüller Hanns; Laing Nigel G
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Neuromuscular disorders : NMD 2006;16(9-10):541-7.
2006: Toriumi Yoshitaka; Takusa Yuichi; Uchiyama Atsushi; Kimura Masahiko; Sejima Hitoshi; Yamaguchi Seiji; Eda Isematsu; Nishino Ichizo; Nonaka Ikuya
Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
Brain & development 2006;28(7):458-61.
2006: Nishino Ichizo
Autophagic vacuolar myopathy.
Seminars in pediatric neurology 2006;13(2):90-5.
2006: Ibarra M Carlos A; Wu Shiwen; Murayama Kumiko; Minami Narihiro; Ichihara Yasuko; Kikuchi Hirosato; Noguchi Satoru; Hayashi Yukiko K; Ochiai Ryoichi; Nishino Ichizo
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Anesthesiology 2006;104(6):1146-54.
2006: Inoue Masahiko; Wakayama Yoshihiro; Kojima Hiroko; Shibuya Seiji; Jimi Takahiro; Oniki Hiroaki; Nishino Ichizo; Nonaka Ikuya
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy.
The Tohoku journal of experimental medicine 2006;209(2):109-16.
2006: Wu Shiwen; Ibarra M Carlos A; Malicdan May Christine V; Murayama Kumiko; Ichihara Yasuko; Kikuchi Hirosato; Nonaka Ikuya; Noguchi Satoru; Hayashi Yukiko K; Nishino Ichizo
Central core disease is due to RYR1 mutations in more than 90% of patients.
Brain : a journal of neurology 2006;129(Pt 6):1470-80.
2006: Scott Adrian Phillip; Allcock Richard James Nigel; Mastaglia Frank; Nishino Ichizo; Nonaka Ikuya; Laing Nigel
Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1.
Neuromuscular disorders : NMD 2006;16(5):311-5.
2006: Goto Kanako; Nishino Ichizo; Hayashi Yukiko K
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(4):256-61.
2006: Hino-Fukuyo Naomi; Haginoya Kazuhiro; Hayashi Yukiko K; Nishino Ichizo; Murakami Terumi; Nonaka Ikuya; Togashi Kaoru; Tanaka Souichiro; Takayanagi Masaru; Yokoyama Hiroyuki; Sakamoto Osamu; Abe Toshiaki; Toda Tatsushi; Iinuma Kazuie
A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit.
Neuromuscular disorders : NMD 2006;16(4):274-6.
2006: Taniguchi Mariko; Kurahashi Hiroki; Noguchi Satoru; Fukudome Takayasu; Okinaga Takeshi; Tsukahara Toshifumi; Tajima Youichi; Ozono Keiichi; Nishino Ichizo; Nonaka Ikuya; Toda Tatsushi
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.
Human molecular genetics 2006;15(8):1279-89.
2006: Taniguchi Mariko; Kurahashi Hiroki; Noguchi Satoru; Sese Jun; Okinaga Takeshi; Tsukahara Toshifumi; Guicheney Pascale; Ozono Keiichi; Nishino Ichizo; Morishita Shinichi; Toda Tatsushi
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
Biochemical and biophysical research communications 2006;342(2):489-502.
2006: Sakamoto Haruko Maeda; Yoshioka Mieko; Tsuji Masahiro; Kuroki Shigekazu; Higuchi Yoshihisa; Nonaka Ikuya; Nishino Ichizo
A case of congenital neuromuscular disease with uniform type 1 fibers.
Brain & development 2006;28(3):202-5.
2006: Ozawa Ritsuko; Hayashi Yukiko K; Ogawa Megumu; Kurokawa Rumi; Matsumoto Hiroshi; Noguchi Satoru; Nonaka Ikuya; Nishino Ichizo
Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.
The American journal of pathology 2006;168(3):907-17.
2006: Liewluck Teerin; Raksadawan Natte; Limwongse Chanin; Nishino Ichizo; Sangruchi Tumtip
Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.
Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2006;89(1):99-105.
2006: Hirano Michio; Nishino Ichizo; Nishigaki Yutaka; Martí Ramon
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Internal medicine (Tokyo, Japan) 2006;45(19):1103.
2005: Murakami Nobuyuki; Sakuta Ryoichi; Takahashi Etsuro; Katada Yasuki; Nagai Toshiro; Owada Misao; Nishino Ichizo; Nonaka Ikuya
Early onset distal muscular dystrophy with normal dysferlin expression.
Brain & development 2005;27(8):589-91.
2005: Nishino Ichizo; Noguchi Satoru; Murayama Kumiko; Ohkuma Aya; Kasahata Naoki; Malicdan May Christine V; Hayashi Yukiko K; Nonaka Ikuya
[Molecular pathomechanism of distal myopathy with rimmed vacuoles]
Rinsho shinkeigaku = Clinical neurology 2005;45(11):943-5.
2005: Nishino I; Malicdan May Christine V; Murayama K; Nonaka I; Hayashi Y K; Noguchi S
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005;24(2):80-3.
2005: Yan C; Tanaka M; Sugie K; Nobutoki T; Woo M; Murase N; Higuchi Y; Noguchi S; Nonaka I; Hayashi Y K; Nishino I
A new congenital form of X-linked autophagic vacuolar myopathy.
Neurology 2005;65(7):1132-4.
2005: Noguchi S; Fujita M; Murayama K; Kurokawa R; Nishino I
Gene expression analyses in X-linked myotubular myopathy.
Neurology 2005;65(5):732-7.
2005: Sakuta Ryoichi; Murakami Nobuyuki; Jin Yuko; Nagai Toshiro; Nonaka Ikuya; Nishino Ichizo
Diagnostic significance of membrane attack complex and vitronectin in childhood dermatomyositis.
Journal of child neurology 2005;20(7):597-602.
2005: Sugie Kazuma; Noguchi Satoru; Kozuka Yoshimichi; Arikawa-Hirasawa Eri; Tanaka Mikihito; Yan Chuanzhu; Saftig Paul; von Figura Kurt; Hirano Michio; Ueno Satoshi; Nonaka Ikuya; Nishino Ichizo
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.
Journal of neuropathology and experimental neurology 2005;64(6):513-22.
2005: Takahashi Nobuyuki; Shimada Toshio; Murakami Yo; Katoh Harumi; Oyake Nobuyuki; Ishibashi Yutaka; Nishino Ichizo; Nonaka Ikuya; Goto Yu-Ichi
Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
The American journal of the medical sciences 2005;329(5):265-6.
2005: Amouri R; Driss A; Murayama K; Kefi M; Nishino I; Hentati F
Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.
Neuromuscular disorders : NMD 2005;15(5):361-3.
2005: Matsumoto Hiroshi; Hayashi Yukiko K; Kim Dae-Son; Ogawa Megumu; Murakami Terumi; Noguchi Satoru; Nonaka Ikuya; Nakazawa Tomoyuki; Matsuo Takiko; Futagami Satoshi; Campbell Kevin P; Nishino Ichizo
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Neuromuscular disorders : NMD 2005;15(5):342-8.
2005: Goh Khean Jin; Wong Kum Thong; Nishino Ichizo; Minami Narihiro; Nonaka Ikuya
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
Neuromuscular disorders : NMD 2005;15(3):262-4.
2005: Tsai Tzung-Chang; Horinouchi Hideo; Noguchi Satoru; Minami Narihiro; Murayama Kumiko; Hayashi Yukiko K; Nonaka Ikuya; Nishino Ichizo
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Neuromuscular disorders : NMD 2005;15(3):245-52.
2005: Nonaka Ikuya; Noguchi Satoru; Nishino Ichizo
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
Current neurology and neuroscience reports 2005;5(1):61-5.
2004: Nagashima Toshiko; Chuma Takayo; Mano Yukio; Goto Yu-ichi; Hayashi Yukiko K; Minami Narihiro; Nishino Ichizo; Nonaka Ikuya; Takahashi Toshiaki; Sawa Hirofumi; Aoki Masashi; Nagashima Kazuo
Dysferlinopathy associated with rigid spine syndrome.
Neuropathology : official journal of the Japanese Society of Neuropathology 2004;24(4):341-6.
2004: Sugie Kazuma; Murayama Kumiko; Noguchi Satoru; Murakami Nobuyuki; Mochizuki Mika; Hayashi Yukiko K; Nonaka Ikuya; Nishino Ichizo
Two novel CAV3 gene mutations in Japanese families.
Neuromuscular disorders : NMD 2004;14(12):810-4.
2004: Nishino Ichizo; Hayashi Yukiko K; Noguchi Satoru
[The pathomechanism and the direction of therapy development in view of cDNA microarray]
Rinsho shinkeigaku = Clinical neurology 2004;44(11):905-7.
2004: Laing Nigel G; Clarke Nigel F; Dye Danielle E; Liyanage Khema; Walker Kendall R; Kobayashi Yasuaki; Shimakawa Shuichi; Hagiwara Tohru; Ouvrier Robert; Sparrow John C; Nishino Ichizo; North Kathryn N; Nonaka Ikuya
Actin mutations are one cause of congenital fibre type disproportion.
Annals of neurology 2004;56(5):689-94.
2004: Hirano M; Martí R; Spinazzola A; Nishino I; Nishigaki Y
Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1217-25.
2004: Kawabe K; Goto K; Nishino I; Angelini C; Hayashi Y K
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2004;11(10):657-61.
2004: Hama Kiwa; Miwa Hideto; Nishino Ichizo; Nonaka Ikuya; Kondo Tomoyoshi
[Inclusion body myositis associated with chronic thyroiditis, Sjögren's syndrome and autoimmune cholangitis]
No to shinkei = Brain and nerve 2004;56(6):503-7.
2004: Matsumoto Hiroshi; Noguchi Satoru; Sugie Kazuma; Ogawa Megumu; Murayama Kumiko; Hayashi Yukiko K; Nishino Ichizo
Subcellular localization of fukutin and fukutin-related protein in muscle cells.
Journal of biochemistry 2004;135(6):709-12.
2004: Ohashi Y; Hasegawa Y; Murayama K; Ogawa M; Hasegawa T; Kawai M; Sakata N; Yoshida K; Yarita H; Imai K; Kumagai I; Murakami K; Hasegawa H; Noguchi S; Nonaka I; Yamaguchi S; Nishino I
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Neurology 2004;62(12):2209-13.
2004: Yamanaka Gaku; Goto Kanako; Ishihara Tadayuki; Oya Yasushi; Miyajima Tasuku; Hoshika Akinori; Nishino Ichizo; Hayashi Yukiko K
FSHD-like patients without 4q35 deletion.
Journal of the neurological sciences 2004;219(1-2):89-93.
2004: Kim D S; Hayashi Y K; Matsumoto H; Ogawa M; Noguchi S; Murakami N; Sakuta R; Mochizuki M; Michele D E; Campbell K P; Nonaka I; Nishino I
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
Neurology 2004;62(6):1009-11.
2004: Noguchi Satoru; Keira Yoko; Murayama Kumiko; Ogawa Megumu; Fujita Masako; Kawahara Genri; Oya Yasushi; Imazawa Masaoki; Goto Yu-Ichi; Hayashi Yukiko K; Nonaka Ikuya; Nishino Ichizo
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
The Journal of biological chemistry 2004;279(12):11402-7.
2004: Ishikawa H; Sugie K; Murayama K; Awaya A; Suzuki Y; Noguchi S; Hayashi Y K; Nonaka I; Nishino I
Ullrich disease due to deficiency of collagen VI in the sarcolemma.
Neurology 2004;62(4):620-3.
2004: Goto K; Nishino I; Hayashi Y K
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.
Journal of medical genetics 2004;41(1):e12.
2004: Martí Ramon; Spinazzola Antonella; Tadesse Saba; Nishino Ichizo; Nishigaki Yutaka; Hirano Michio
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
Clinical chemistry 2004;50(1):120-4.
2003: Sugie Kazuma; Koori Tateo; Yamamoto Ayaka; Ogawa Megumu; Hirano Michio; Inoue Kiyoharu; Nonaka Ikuya; Nishino Ichizo
Characterization of Danon disease in a male patient and his affected mother.
Neuromuscular disorders : NMD 2003;13(9):708-11.
2003: Morino Kotaro; Kita Yasusi; Yoneda Yukihiro; Tabuchi Masayasu; Nishino Ichizo; Nonaka Ikuya
[Dropped head plus syndrome; a case report]
Rinsho shinkeigaku = Clinical neurology 2003;43(9):556-9.
2003: Ishikawa Harumi; Nonaka Ikuya; Nishino Ichizo
Negative result in search for human alpha-dystrobrevin deficiency.
Muscle & nerve 2003;28(3):387-8.
2003: Nambu M; Kawabe K; Fukuda T; Okuno T B; Ohta S; Nonaka I; Sugie H; Nishino I
A neonatal form of glycogen storage disease type IV.
Neurology 2003;61(3):392-4.
2003: Yoshikawa Ayumu; Mitsuhashi Hiroaki; Sasagawa Noboru; Tsukahara Toshifumi; Hayashi Yukiko; Nishino Ichizo; Goto Yu-ichi; Ishiura Shoichi
Expression of ARPP-16/19 in rat denervated skeletal muscle.
Journal of biochemistry 2003;134(1):57-61.
2003: Kaneda D; Sugie K; Yamamoto A; Matsumoto H; Kato T; Nonaka I; Nishino I
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement.
Neurology 2003;61(1):128-31.
2003: Tagawa Kazuhiko; Ogawa Megumu; Kawabe Kiyokazu; Yamanaka Gaku; Matsumura Tsuyoshi; Goto Kanako; Nonaka Ikuya; Nishino Ichizo; Hayashi Yukiko K
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
Journal of the neurological sciences 2003;211(1-2):23-8.
2003: Ikezoe Koji; Furuya Hirokazu; Ohyagi Yasumasa; Osoegawa Manabu; Nishino Ichizo; Nonaka Ikuya; Kira Jun-Ichi
Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress.
Acta neuropathologica 2003;105(6):603-9.
2003: Keira Yoko; Noguchi Satoru; Minami Narihiro; Hayashi Yukiko K; Nishino Ichizo
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
Journal of biochemistry 2003;133(5):659-64.
2003: Driss A; Noguchi S; Amouri R; Kefi M; Sasaki T; Sugie K; Souilem S; Hayashi Y K; Shimizu N; Minoshima S; Kudoh J; Hentati F; Nishino I
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
Neurology 2003;60(8):1341-4.
2003: Chang Sangmi; Ishikawa Tatsuya; Nonaka Ikuya; Tsukamoto Haruko; Saito Mariko; Ban Kyoko; Wada Ikuo; Sugie Kazuma; Nishino Ichizo
[Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease]
No to hattatsu. Brain and development 2003;35(2):159-64.
2003: Noguchi Satoru; Tsukahara Toshifumi; Fujita Masako; Kurokawa Rumi; Tachikawa Masaji; Toda Tatsushi; Tsujimoto Atsumi; Arahata Kiichi; Nishino Ichizo
cDNA microarray analysis of individual Duchenne muscular dystrophy patients.
Human molecular genetics 2003;12(6):595-600.
2003: Taniguchi Kiyomi; Kobayashi Kazuhiro; Saito Kayoko; Yamanouchi Hideo; Ohnuma Akira; Hayashi Yukiko K; Manya Hiroshi; Jin Dong Kyu; Lee Munhyang; Parano Enrico; Falsaperla Raffaele; Pavone Piero; Van Coster Rudy; Talim Beril; Steinbrecher Alice; Straub Volker; Nishino Ichizo; Topaloglu Haluk; Voit Thomas; Endo Tamao; Toda Tatsushi
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Human molecular genetics 2003;12(5):527-34.
2003: Nishino Ichizo
Autophagic vacuolar myopathies.
Current neurology and neuroscience reports 2003;3(1):64-9.
2002: Nishino I; Noguchi S; Murayama K; Driss A; Sugie K; Oya Y; Nagata T; Chida K; Takahashi T; Takusa Y; Ohi T; Nishimiya J; Sunohara N; Ciafaloni E; Kawai M; Aoki M; Nonaka I
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Neurology 2002;59(11):1689-93.
2002: Pepe Guglielmina; Bertini Enrico; Bonaldo Paolo; Bushby Kate; Giusti Betti; de Visser Marianne; Guicheney Pascale; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Nishino Ichizo; Nonaka Ikuya; Yaou Rabah Ben; Sabatelli Patrizia; Sewry Caroline; Topaloglu Haluk; van der Kooi Anneke
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(10):984-93.
2002: Marti Ramon; Spinazzola Antonella; Nishino Ichizo; Andreu Antonio L; Naini Ali; Tadesse Saba; Oliver Juan A; Hirano Michio
Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.
Mitochondrion 2002;2(1-2):143-7.
2002: Ishikawa H; Sugie K; Murayama K; Ito M; Minami N; Nishino I; Nonaka I
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.
Neurology 2002;59(6):920-3.
2002: Sugie K; Yamamoto A; Murayama K; Oh S J; Takahashi M; Mora M; Riggs J E; Colomer J; Iturriaga C; Meloni A; Lamperti C; Saitoh S; Byrne E; DiMauro S; Nonaka I; Hirano M; Nishino I
Clinicopathological features of genetically confirmed Danon disease.
Neurology 2002;58(12):1773-8.
2002: Yamasoba Tatsuya; Goto Yu ichi; Oka Yoshitomo; Nishino Ichizo; Tsukuda Katsunori; Nonaka Ikuya
Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.
Neuromuscular disorders : NMD 2002;12(5):506-12.
2002: Suzuki Takashi; Nakagawa Masahiro; Yoshikawa Ayumu; Sasagawa Noboru; Yoshimori Tamotsu; Ohsumi Yoshinori; Nishino Ichizo; Ishiura Shoichi; Nonaka Ikuya
The first molecular evidence that autophagy relates rimmed vacuole formation in chloroquine myopathy.
Journal of biochemistry 2002;131(5):647-51.
2002: Arikawa-Hirasawa Eri; Le Alexander H; Nishino Ichizo; Nonaka Ikuya; Ho Nicola C; Francomano Clair A; Govindraj Prasanthi; Hassell John R; Devaney Joseph M; Spranger Jürgen; Stevenson Roger E; Iannaccone Susan; Dalakas Marinos C; Yamada Yoshihiko
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
American journal of human genetics 2002;70(5):1368-75.
2002: Matsumoto Hiroshi; Nishino Ichizo
[Complex V deficiency]
Nippon rinsho. Japanese journal of clinical medicine 2002;60 Suppl 4():495-8.
2002: Nishino Ichizo; Hirano Michio
[MNGIE--thymidine phosphorylase deficiency]
Nippon rinsho. Japanese journal of clinical medicine 2002;60 Suppl 4():349-52.
2002: Kano Hiroki; Kobayashi Kazuhiro; Herrmann Ralf; Tachikawa Masaji; Manya Hiroshi; Nishino Ichizo; Nonaka Ikuya; Straub Volker; Talim Beril; Voit Thomas; Topaloglu Haluk; Endo Tamao; Yoshikawa Hideki; Toda Tatsushi
Deficiency of alpha-dystroglycan in muscle-eye-brain disease.
Biochemical and biophysical research communications 2002;291(5):1283-6.
2002: Spinazzola Antonella; Marti Ramon; Nishino Ichizo; Andreu Antonio L; Naini Ali; Tadesse Saba; Pela Ivana; Zammarchi Enrico; Donati M Alice; Oliver Juan A; Hirano Michio
Altered thymidine metabolism due to defects of thymidine phosphorylase.
The Journal of biological chemistry 2002;277(6):4128-33.
2002: Tateyama M; Aoki M; Nishino I; Hayashi Y K; Sekiguchi S; Shiga Y; Takahashi T; Onodera Y; Haginoya K; Kobayashi K; Iinuma K; Nonaka I; Arahata K; Itoyama Y;
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
Neurology 2002;58(2):323-5.
2001: Nonaka I; Minami N; Chae J; Hayashi Y K; Nishino I; Arahata K
[Recent advances in limb-girdle muscular dystrophy research]
Rinsho shinkeigaku = Clinical neurology 2001;41(12):1194-7.
2001: Ikemoto-Tsuchiya K; Nishino I; Kawai M; Morimatsu M; Nonaka I
A new form of muscular dystrophy with mitochondrial structural abnormalities.
Muscle & nerve 2001;24(12):1710-1.
2001: Hirano M; Marti R; Ferreiro-Barros C; Vilà M R; Tadesse S; Nishigaki Y; Nishino I; Vu T H
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
Seminars in cell & developmental biology 2001;12(6):417-27.
2001: Yamamoto A; Morisawa Y; Verloes A; Murakami N; Hirano M; Nonaka I; Nishino I
Infantile autophagic vacuolar myopathy is distinct from Danon disease.
Neurology 2001;57(5):903-5.
2001: Ozawa E; Nishino I; Nonaka I
Sarcolemmopathy: muscular dystrophies with cell membrane defects.
Brain pathology (Zurich, Switzerland) 2001;11(2):218-30.
2001: Nishino I; Spinazzola A; Hirano M
MNGIE: from nuclear DNA to mitochondrial DNA.
Neuromuscular disorders : NMD 2001;11(1):7-10.
2001: Nishino I
[X-linked myopathy with excessive autophagy]
Ryoikibetsu shokogun shirizu 2001;(36):230-2.
2001: Nishino I
[Danon disease]
Ryoikibetsu shokogun shirizu 2001;(36):225-9.
2001: Nishino I
[MNGIE (mitochondrial neurogastrointestinal encephalomyopathy)]
Ryoikibetsu shokogun shirizu 2001;(36):160-3.
2001: Ishikawa H; Nishino I
[Chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS)]
Ryoikibetsu shokogun shirizu 2001;(36):153-6.
2001: Ishikawa H; Nishino I
[Reducing body myopathy]
Ryoikibetsu shokogun shirizu 2001;(35):424-6.
2001: Yamamoto A; Nishino I
[Fingerprint myopathy]
Ryoikibetsu shokogun shirizu 2001;(35):423.
2001: Yamamoto A; Nishino I
[Congenital fiber type disproportion(CFTD)]
Ryoikibetsu shokogun shirizu 2001;(35):421-2.
2001: Nishino I
[X-linked myotubular myopathy]
Ryoikibetsu shokogun shirizu 2001;(35):418-20.
2001: Nishino I
[Centronuclear myopathy]
Ryoikibetsu shokogun shirizu 2001;(35):414-7.
2001: Nishino I
[Myopathy, reducing body]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):255-6.
2001: Nishino I
[Myopathy, ocular with hypogonadism]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):253-4.
2001: Yamamoto A; Nishino I
[Myopathy, nemaline]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):251-2.
2001: Nishino I
[Myopathy, myotubular]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):249-50.
2001: Nishino I
[Myopathy, hereditary with lactic acidosis]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):247-8.
2001: Yamamoto A; Nishino I
[Myopathy, congenital fiber type disproportion]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):246.
2001: Nishino I
[Myopathy, central core disease type]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):244-5.
2001: Ishikawa H; Nishino I
[Malignant hyperthermia]
Ryoikibetsu shokogun shirizu 2001;(34 Pt 2):129-30.
2000: Nishino I; Spinazzola A; Papadimitriou A; Hammans S; Steiner I; Hahn C D; Connolly A M; Verloes A; Guimarães J; Maillard I; Hamano H; Donati M A; Semrad C E; Russell J A; Andreu A L; Hadjigeorgiou G M; Vu T H; Tadesse S; Nygaard T G; Nonaka I; Hirano I; Bonilla E; Rowland L P; DiMauro S; Hirano M
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology 2000;47(6):792-800.
1999: Nygaard T G; Raymond D; Chen C; Nishino I; Greene P E; Jennings D; Heiman G A; Klein C; Saunders-Pullman R J; Kramer P; Ozelius L J; Bressman S B
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Annals of neurology 1999;46(5):794-8.
1999: Sue C M; Tanji K; Hadjigeorgiou G; Andreu A L; Nishino I; Krishna S; Bruno C; Hirano M; Shanske S; Bonilla E; Fischel-Ghodsian N; DiMauro S; Friedman R
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Neurology 1999;52(9):1905-8.
1999: Nishino I; Spinazzola A; Hirano M
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Science (New York, N.Y.) 1999;283(5402):689-92.
1999: Ikezawa M; Nishino I; Goto Y; Miike T; Nonaka I
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online.
Human mutation 1999;13(2):170.
1998: Kimura S; Sugino S; Ohtani Y; Matsukura M; Nishino I; Ikezawa M; Sakata A; Kondo Y; Yoshioka K; Huard J; Nonaka I; Miike T
Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy.
Annals of neurology 1998;44(6):967-71.
1998: Nishino I; Minami N; Kobayashi O; Ikezawa M; Goto Y; Arahata K; Nonaka I
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.
Neuromuscular disorders : NMD 1998;8(7):453-8.
1998: Hirano M; Garcia-de-Yebenes J; Jones A C; Nishino I; DiMauro S; Carlo J R; Bender A N; Hahn A F; Salberg L M; Weeks D E; Nygaard T G
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
American journal of human genetics 1998;63(2):526-33.
1998: Nishino I; Kobayashi O; Goto Y; Kurihara M; Kumagai K; Fujita T; Hashimoto K; Horai S; Nonaka I
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
Muscle & nerve 1998;21(1):40-7.
1998: Nishino I; Nonaka I
[Mitochondrial DNA depletion]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):501-4.
1998: Nishino I; Nonaka I
[Electron transfer complex III deficiency]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):494-6.

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