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Ichizo Nishino

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Wen-Chen Liang; Ichizo Nishino
Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients.
Tai-Heng Chen; Kanako Goto; Yukiko K Hayashi; Jong-Hau Hsu; Chao-Ching Huang; Yu-Hung Lai; Pei-Lun Lee; Wen-Chen Liang; Chin-Wen Lin; Ichizo Nishino; Hsiang-Hung Shih; Wen-Fu Wang; Yuh-Jyh Jong
Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.
Takatoshi Sato; Kazuma Sugie; Ichiro Yabe; Yukiko K Hayashi; Hideki Houzen; Daita Kaneda; Tomoyoshi Kondo; Satoru Noguchi; Ikuya Nonaka; Makiko Osawa; Yasushi Oya; Hidenao Sasaki; Ichizo Nishino
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

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All Publications

2013: Wen-Chen Liang; Ichizo Nishino
Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients.
Journal of neurology, neurosurgery, and psychiatry 2013;84(6):591.
2013: Tai-Heng Chen; Kanako Goto; Yukiko K Hayashi; Jong-Hau Hsu; Chao-Ching Huang; Yu-Hung Lai; Pei-Lun Lee; Wen-Chen Liang; Chin-Wen Lin; Ichizo Nishino; Hsiang-Hung Shih; Wen-Fu Wang; Yuh-Jyh Jong
Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.
Neuromuscular disorders : NMD 2013;23(4):298-305.
2013: Takatoshi Sato; Kazuma Sugie; Ichiro Yabe; Yukiko K Hayashi; Hideki Houzen; Daita Kaneda; Tomoyoshi Kondo; Satoru Noguchi; Ikuya Nonaka; Makiko Osawa; Yasushi Oya; Hidenao Sasaki; Ichizo Nishino
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Neuromuscular disorders : NMD 2013;23(3):269-76.
2013: Nivetha Ramachandran; Zhi-Ping Ren; Jennifer J Rilstone; Alessandra Ruggieri; Chetankumar S Tailor; Bjarne Udd; Peixiang Wang; Carlo Minetti; Iulia Munteanu; Taline Naranian; Ichizo Nishino; Paul Paroutis; Jean-Francois Pellissier; Cameron Ackerley; Brigitte Chabrol; Michel Fardeau; Ray Guo; Nyrie Israelian; Hannu Kalimo; John T Kissel; Nicolas Levy; Don J Mahuran; Morris F Manolson; Berge A Minassian
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Acta neuropathologica 2013;125(3):439-57.
2013: Yosuke Kakisaka; Atsuo Kikuchi; Hirosato Kikuchi; Satoru Kobayashi; Tatsuhiro Ochiai; Shinichiro Takahashi; Yuko Takahashi; Keisuke Wakusawa; Ikuma Fujiwara; Kazuhiro Haginoya; Yasuko Ichihara; Ichizo Nishino
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
American journal of medical genetics. Part A 2013;161A(1):234-5.
2012: Takayoshi Kawabata; Toshitaka Kizawa; Hirofumi Komaki; Mei Momomura; Eiji Nakagawa; Ichizo Nishino; Takashi Saito; Yoshiaki Saito; Masayuki Sasaki; Kenji Sugai; Yukiko K Hayashi; Tomoyuki Imagawa; Shumpei Yokota
A pediatric patient with myopathy associated with antibodies to a signal recognition particle.
Brain & development 2012;34(10):877-80.
2012: Tomoko Sugiura; Rie Tsuburaya; Takefumi Furuya; Takahisa Gono; Kanako Goto; Yukiko Hayashi; Yasushi Kawaguchi; Ichizo Nishino; Hisashi Yamanaka
Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population.
Annals of the rheumatic diseases 2012;71(10):1646-50.
2012: Steven E Boyden; Basil T Darras; Elizabeth T DeChene; Friederike Dey; Anna R Duncan; Elicia A Estrella; Alan H Beggs; Jessica M Blasko-Goehringer; Carsten G Bönnemann; Genri Kawahara; Louis Kunkel; Hart G W Lidov; Lane J Mahoney; Jerry R Mendell; Satomi Mitsuhashi; Jennifer A Myers; Ichizo Nishino; Peter B Kang
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics 2012;13(2):115-24.
2012: Rie S Tsuburaya; Ikuya Nonaka; Yasushi Oya; Hideo Sugie; Tokiko Fukuda; Yukiko K Hayashi; Kazunari Monma; Takahiro Nakayama; Ichizo Nishino
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
Neuromuscular disorders : NMD 2012;22(5):389-93.
2012: Eri Kondo; Tomoki Kosho; Satomi Mitsuhashi; Takafumi Nishimura; Ichizo Nishino; Ikuya Nonaka; Atsushi Baba; Toru Furukawa; Yuji Inaba; Takefumi Ishida; Kenichi Koike; Kayoko Saito
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
American journal of medical genetics. Part A 2012;158A(4):772-8.
2012: Etsuko Keduka; Hiroaki Mitsuhashi; Satoru Noguchi; Ikuya Nonaka; Sherine Shalaby; Yukiko K Hayashi; Ichizo Nishino
In vivo characterization of mutant myotilins.
The American journal of pathology 2012;180(4):1570-80.
2012: Ichizo Nishino; Satoru Noguchi
[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles].
Brain and nerve = Shinkei kenkyū no shinpo 2012;64(3):255-61.
2012: Shinya Sato; Ichizo Nishino; Takekazu Ohi; Hideo Sugie
Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy.
Muscle & nerve 2012;45(3):436-40.
2012: Z Shi; C Toyoda; M Wada; S Noguchi; I Nonaka; H Sato; Y-C Choi; K Goto; Y K Hayashi; S Hieda; T Kamiyama; D Kaneda; S Mitsuhashi; Ichizo Nishino
Characterization of the Asian myopathy patients with VCP mutations.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2012;19(3):501-9.
2012: Naoki Suzuki; Ikuya Nonaka; Masashi Aoki; Yukiko K Hayashi; Madoka Mori-Yoshimura; Ichizo Nishino
Increase in number of sporadic inclusion body myositis (sIBM) in Japan.
Journal of neurology 2012;259(3):554-6.
2012: Hisashi Kawashima; Tasuku Miyajima; Yasuyoshi Morishima; Ichizo Nishino; Hiroaki Ioi; Yasuyo Kashiwagi; Kouji Takekuma; Kiyoko Watanabe; Hironao Numabe
High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation.
Pediatrics international : official journal of the Japan Pediatric Society 2012;54(1):137-40.
2012: Ayako Hattori; Yukiko K Hayashi; Masao Kawatani; Hirofumi Komaki; Eiji Nakagawa; Ikuya Nonaka; Yoshiaki Saito; Hiroshi Sakuma; Masayuki Sasaki; Kenji Sugai; Ichizo Nishino
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
Neuromuscular disorders : NMD 2012;22(2):149-51.
2012: Sayuri Sukigara; Tokiko Fukuda; Yukiko K Hayashi; Hirofumi Komaki; Wen-Chen Liang; Takeshi Miyamoto; Eiji Nakagawa; Takashi Saito; Yoshiaki Saito; Masayuki Sasaki; Kenji Sugai; Hideo Sugie; Ichizo Nishino
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
Neuromuscular disorders : NMD 2012;22(2):162-5.
2012: Kazunari Momma; Satoru Noguchi; Ikuya Nonaka; Yukiko K Hayashi; Keiko Kamakura; May Christine V Malicdan; Narihiro Minami; Ichizo Nishino
Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
PloS one 2012;7(12):e52002.
2012: Ichizo Nishino; Satoru Noguchi
[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)].
Rinshō shinkeigaku = Clinical neurology 2012;52(11):1210-2.
2012: Chie Matsuda; Katsuya Miyake; Ichizo Nishino; Hiroshi Takeshima; Nobukazu Araki; Toru Imamura; Kimihiko Kameyama; Etsuko Keduka; Yukiko Hayashi
The C2A domain in dysferlin is important for association with MG53 (TRIM72).
PLoS currents 2012;4():e5035add8caff4.
2012: Yoshihisa Ohtsuka; Kenji Sekiguchi; Fumio Kanda; Hisatomo Kowa; Ichizo Nishino; Naoko Yasui; Tatsushi Toda
[A case of amyloidosis with amyloid deposition detected only in skeletal muscles].
Rinshō shinkeigaku = Clinical neurology 2012;52(10):739-43.
2011: Satomi Mitsuhashi; Ichizo Nishino
Phospholipid synthetic defect and mitophagy in muscle disease.
Autophagy 2011;7(12):1559-61.
2011: Naoki Suzuki; Maki Tateyama; Hitoshi Warita; Rumiko Izumi; Ichizo Nishino; Masashi Aoki
[Pathomechanism and prevalence of sporadic inclusion body myositis (sIBM)].
Rinshō shinkeigaku = Clinical neurology 2011;51(11):964-6.
2011: Ichizo Nishino
[ABC in muscle pathology].
Rinshō shinkeigaku = Clinical neurology 2011;51(9):669-76.
2011: Michinori Koebis; Ichizo Nishino; Natsumi Ohsawa; Noboru Sasagawa; Yoshihiro Kino; Shoichi Ishiura
Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.
Genes to cells : devoted to molecular & cellular mechanisms 2011;16(9):961-72.
2011: Rie Tsuburaya; Yukiko K Hayashi; Ikuya Nonaka; Ken Saiki; Hideo Sugita; Takateru Suzuki; Ichizo Nishino
Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.
Neuropathology : official journal of the Japanese Society of Neuropathology 2011;31(4):455-7.
2011: Yoshiaki Saito; Masayuki Sasaki; Fumi Takeuchi; Kayo Tominaga; Ayako Hattori; Yukiko K Hayashi; Ken Kawabata; Hirofumi Komaki; Nigel G Laing; Satomi Mitsuhashi; Ikuya Nonaka; Kristen J Nowak; Ichizo Nishino
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
Neuromuscular disorders : NMD 2011;21(7):489-93.
2011: Tomoya Kubota; Ichizo Nishino; Xavier Roca; Saburo Sakoda; Takashi Kimura; Yosuke Kokunai; Adrian R Krainer; Masanori P Takahashi
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
Human mutation 2011;32(7):773-82.
2011: Wen-Chen Liang; Hiroaki Mitsuhashi; Ichizo Nishino; Satoru Noguchi; Ikuya Nonaka; Etsuko Keduka; Yukiko K Hayashi
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
Annals of neurology 2011;69(6):1005-13.
2011: Natsumi Ohsawa; Michinori Koebis; Satoshi Suo; Ichizo Nishino; Shoichi Ishiura
Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
Biochemical and biophysical research communications 2011;409(1):64-9.
2011: Takakuni Maki; Riki Matsumoto; Nobuo Kohara; Takayuki Kondo; Insuk Son; Takahiro Mezaki; Ichizo Nishino; Akio Ikeda; Ryosuke Takahashi
Rippling is not always electrically silent in rippling muscle disease.
Muscle & nerve 2011;43(4):601-5.
2011: Wen-Chen Liang; Ichizo Nishino
Lipid storage myopathy.
Current neurology and neuroscience reports 2011;11(1):97-103.
2010: Masakazu Mimaki; Hideyuki Hatakeyama; Hirofumi Komaki; Mina Yokoyama; Hidee Arai; Yohei Kirino; Tsutomu Suzuki; Ichizo Nishino; Ikuya Nonaka; Yu-ichi Goto
Reversible infantile respiratory chain deficiency: a clinical and molecular study.
Annals of neurology 2010;68(6):845-54.
2010: Hiroaki Mitsuhashi; Yukiko K Hayashi; Chie Matsuda; Satoru Noguchi; Shuji Wakatsuki; Toshiyuki Araki; Ichizo Nishino
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
Journal of cell science 2010;123(Pt 22):3893-900.
2010: Ichizo Nishino
[Elucidation of the pathomechanism for autophagic vacuolar myopathy and development of a therapy].
Rinshō shinkeigaku = Clinical neurology 2010;50(11):779.
2010: W C Liang; Ichizo Nishino
State of the art in muscle lipid diseases.
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 2010;29(2):351-6.
2010: Kiyoko Ishii; Hirofumi Komaki; Aya Ohkuma; Ichizo Nishino; Ikuya Nonaka; Masayuki Sasaki
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Brain & development 2010;32(8):669-72.
2010: Jun Mitsui; Yuji K Takahashi; Jun Goto; Hiroyuki Tomiyama; Shunpei Ishikawa; Hiroyo Yoshino; Narihiro Minami; David I Smith; Suzanne Lesage; Hiroyuki Aburatani; Ichizo Nishino; Alexis Brice; Nobutaka Hattori; Shoji Tsuji
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.
American journal of human genetics 2010;87(1):75-89.
2010: Satoru Noguchi; May Christine Malicdan; Ichizo Nishino
[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].
Brain and nerve = Shinkei kenkyū no shinpo 2010;62(6):601-7.
2010: Masato Iwabu; Toshimasa Yamauchi; Miki Okada-Iwabu; Koji Sato; Tatsuro Nakagawa; Masaaki Funata; Mamiko Yamaguchi; Shigeyuki Namiki; Ryo Nakayama; Mitsuhisa Tabata; Hitomi Ogata; Naoto Kubota; Iseki Takamoto; Yukiko K Hayashi; Naoko Yamauchi; Hironori Waki; Masashi Fukayama; Ichizo Nishino; Kumpei Tokuyama; Kohjiro Ueki; Yuichi Oike; Satoshi Ishii; Kenzo Hirose; Takao Shimizu; Kazushige Touhara; Takashi Kadowaki
Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca(2+) and AMPK/SIRT1.
Nature 2010;464(7293):1313-9.
2010: Kayo Tominaga; Yukiko K Hayashi; Kanako Goto; Narihiro Minami; Satoru Noguchi; Ikuya Nonaka; Tetsuro Miki; Ichizo Nishino
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
Acta neuropathologica 2010;119(4):481-6.
2010: Yoshihiro Yamazaki; Yasutomi Kamei; Satoshi Sugita; Fumiko Akaike; Sayaka Kanai; Shinji Miura; Yukio Hirata; Bruce R Troen; Tadahiro Kitamura; Ichizo Nishino; Takayoshi Suganami; Osamu Ezaki; Yoshihiro Ogawa
The cathepsin L gene is a direct target of FOXO1 in skeletal muscle.
The Biochemical journal 2010;427(1):171-8.
2010: Tohru Okanishi; Tatsuya Ishikawa; Satoru Kobayashi; Naoki Ando; Ichizo Nishino; Hajime Togari; Ikuya Nonaka
Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases.
Brain & development 2010;32(4):342-6.
2010: May Christine Malicdan; Satoru Noguchi; Ichizo Nishino
A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.
Therapeutic advances in neurological disorders 2010;3(2):127-35.
2010: Ichizo Nishino
[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies].
Rinshō shinkeigaku = Clinical neurology 2010;50(1):1-6.
2010: Hua Yang; Sonja Brosel; Rebeca Acin-Perez; Vesna Slavkovich; Ichizo Nishino; Raffay Khan; Ira J Goldberg; Joseph Graziano; Giovanni Manfredi; Eric A Schon
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
Human molecular genetics 2010;19(1):170-80.
2009: Ichizo Nishino; May Christine Malicdan; Satoru Noguchi
[Development of therapy for distal myopathy with rimmed vacuoles].
Rinshō shinkeigaku = Clinical neurology 2009;49(11):852-5.
2009: Yukiko K Hayashi; Chie Matsuda; Megumu Ogawa; Kanako Goto; Kayo Tominaga; Satomi Mitsuhashi; Young-Eun Park; Ikuya Nonaka; Naomi Hino-Fukuyo; Kazuhiro Haginoya; Hisashi Sugano; Ichizo Nishino
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: Teerin Liewluck; Sunsanee Pongpakdee; Rawiphan Witoonpanich; Tumtip Sangruchi; Theeraphong Pho-iam; Chanin Limwongse; Wanna Thongnoppakhun; Kanokwan Boonyapisit; Varisa Sopassathit; Suchart Phudhichareonrat; Udom Suthiponpaisan; Natte Raksadawan; Kanako Goto; Yukiko K Hayashi; Ichizo Nishino
Novel DYSF mutations in Thai patients with distal myopathy.
Clinical neurology and neurosurgery 2009;111(7):613-8.
2009: Young-Eun Park; Yukiko K Hayashi; Gisèle Bonne; Takuro Arimura; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino
Autophagic degradation of nuclear components in mammalian cells.
Autophagy 2009;5(6):795-804.
2009: Asako Arai; Satomi Mitsuhashi; Yoshiaki Saito; Hirofumi Komaki; Hiroshi Sakuma; Eiji Nakagawa; Kenji Sugai; Masayuki Sasaki; Stephen P Robertson; Gen Nishimura; Toshiyuki Yamamoto; Ikuya Nonaka; Ichizo Nishino
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
Neuromuscular disorders : NMD 2009;19(7):485-8.
2009: Sherine Shalaby; Hiroaki Mitsuhashi; Chie Matsuda; Narihiro Minami; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino; Yukiko K Hayashi
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: May Christine Malicdan; Satoru Noguchi; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
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: Terumi Murakami; Yukiko K Hayashi; Megumu Ogawa; Satoru Noguchi; Kevin P Campbell; Masami Togawa; Takehiko Inoue; Akira Oka; Kousaku Ohno; Ikuya Nonaka; Ichizo Nishino
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
Brain & development 2009;31(6):465-8.
2009: T Migita; Keiko Mukaida; H Hamada; M Kobayashi; Ichizo Nishino; Osafumi Yuge; Masashi Kawamoto
Effects of propofol on calcium homeostasis in human skeletal muscle.
Anaesthesia and intensive care 2009;37(3):415-25.
2009: Katsunori Fujii; Narihiro Minami; Yukiko Hayashi; Ichizo Nishino; Ikuya Nonaka; Yuzo Tanabe; Jun-ichi Takanashi; Yoichi Kohno
Homozygous female Becker muscular dystrophy.
American journal of medical genetics. Part A 2009;149A(5):1052-5.
2009: Nivetha Ramachandran; Iulia Munteanu; Peixiang Wang; Pauline Aubourg; 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; Michel Fardeau; Chetankumar S Tailor; Don J Mahuran; John T Kissel; Hannu Kalimo; Nicolas Levy; Morris F Manolson; Cameron Ackerley; Berge A Minassian
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Cell 2009;137(2):235-46.
2009: Koichi Nakao; Shogo Yazawa; Yukiko K Hayashi; Ichizo Nishino; Kazutaka Shiomi; Masamitsu Nakazato
[Late-onset sarcoglycanopathy: a cause of repeated muscle cramps after exertion].
Rinshō shinkeigaku = Clinical neurology 2009;49(4):167-71.
2009: Masakazu Mimaki; Hideyuki Hatakeyama; Takashi Ichiyama; Hiroshi Isumi; Susumu Furukawa; Manami Akasaka; Atsushi Kamei; Hirofumi Komaki; Ichizo Nishino; Ikuya Nonaka; Yu-Ichi Goto
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: Wen-Chen Liang; Aya Ohkuma; Yukiko K Hayashi; Luis Lopez; Michio Hirano; Ikuya Nonaka; Satoru Noguchi; Liang-Hui Chen; Yuh-Jyh Jong; Ichizo Nishino
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: Aya Ohkuma; Satoru Noguchi; Hideo Sugie; May Christine Malicdan; Tokiko Fukuda; Kunio Shimazu; Luis Lopez; Michio Hirano; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
Clinical and genetic analysis of lipid storage myopathies.
Muscle & nerve 2009;39(3):333-42.
2009: Luis Lopez; Hasan O Akman; Angels García-Cazorla; Beatriz Dorado; Ramon Martí; Ichizo Nishino; Saba Tadesse; Giuseppe Pizzorno; Dikoma Shungu; Eduardo Bonilla; Kurenai Tanji; Michio Hirano
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Human molecular genetics 2009;18(4):714-22.
2009: Nobuhiro Dougu; Shuji Joho; Lishen Shan; Takuya Shida; Akira Matsuki; Keiichiro Uese; Keiichi Hirono; Fukiko Ichida; Kortaro Tanaka; Ichizo Nishino; Hiroshi Inoue
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: S Shalaby; Yukiko K Hayashi; Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
Novel FHL1 mutations in fatal and benign reducing body myopathy.
Neurology 2009;72(4):375-6.
2009: Takako Migita; Keiko Mukaida; Hiroshi Hamada; Toshimichi Yasuda; Toshiaki Haraki; Ichizo Nishino; Nobuyuki Murakami; Masashi Kawamoto
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.
Journal of anesthesia 2009;23(3):341-6.
2009: May Christine Malicdan; Satoru Noguchi; Ichizo Nishino
Monitoring autophagy in muscle diseases.
Methods in enzymology 2009;453():379-96.
2009: Young-Eun Park; Yukiko K Hayashi; Kanako Goto; Hirofumi Komaki; Yuichi Hayashi; Takashi Inuzuka; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino
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: Takuro Arimura; Yukiko K Hayashi; Terumi Murakami; Yasushi Oya; Sayaka Funabe; Eri Arikawa-Hirasawa; Nobutaka Hattori; Ichizo Nishino; Akinori Kimura
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.
2008: Sherine Shalaby; Yukiko K Hayashi; Kanako Goto; Megumu Ogawa; Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
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: Nobuyuki Takahashi; Toshio Shimada; Yutaka Ishibashi; H Yoshitomi; Nobuyuki Oyake; Yo Murakami; Ichizo Nishino; Ikuya Nonaka; Yu-ichi Goto; Jun Kitamura
Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
International journal of cardiology 2008;129(3):e77-80.
2008: Terumi Murakami; Ichizo Nishino
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
Brain and nerve = Shinkei kenkyū no shinpo 2008;60(10):1159-64.
2008: May Christine Malicdan; Satoru Noguchi; Ichizo Nishino
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Current opinion in neurology 2008;21(5):596-600.
2008: May Christine Malicdan; Satoru Noguchi; Yukiko K Hayashi; Ichizo Nishino
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: Toshihiko Shirafuji; Yoshihisa Otsuka; Hiroshi Kobessho; Narihiro Minami; Yukiko Hayashi; Ichizo Nishino; Fumio Kanda
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].
Rinshō shinkeigaku = Clinical neurology 2008;48(9):651-5.
2008: Genri Kawahara; Megumu Ogawa; Mari Okada; May Christine Malicdan; Yu-Ichi Goto; Yukiko K Hayashi; Satoru Noguchi; Ichizo Nishino
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
Muscle & nerve 2008;38(3):1192-5.
2008: Aya Ohkuma; Ikuya Nonaka; May Christine Malicdan; Satoru Noguchi; Satoru Ohji; Kyoichi Nomura; Hideo Sugie; Yukiko K Hayashi; Ichizo Nishino
Distal lipid storage myopathy due to PNPLA2 mutation.
Neuromuscular disorders : NMD 2008;18(8):671-4.
2008: Chieko Fujimura-Kiyono; Gabor Z Racz; Ichizo Nishino
Myotubular/centronuclear myopathy and central core disease.
Neurology India 2008;56(3):325-32.
2008: May Christine Malicdan; Satoru Noguchi; Ikuya Nonaka; Paul Saftig; Ichizo Nishino
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.
Neuromuscular disorders : NMD 2008;18(7):521-9.
2008: Chie Matsuda; Kimihiko Kameyama; Atsushi Suzuki; Wataru Mishima; Satoshi Yamaji; Harumasa Okamoto; Ichizo Nishino; Yukiko K Hayashi
Affixin activates Rac1 via betaPIX in C2C12 myoblast.
FEBS letters 2008;582(8):1189-96.
2008: Hiroaki Mitsuhashi; Eugene Futai; Noboru Sasagawa; Yukiko Hayashi; Ichizo Nishino; Shoichi Ishiura
Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells.
Journal of neurochemistry 2008;105(1):101-12.
2008: Daniel J Klionsky; Hagai Abeliovich; Patrizia Agostinis; Devendra K Agrawal; Gjumrakch Aliev; David S Askew; Misuzu Baba; Eric H Baehrecke; Ben A Bahr; Andrea Ballabio; Bruce A Bamber; Diane C Bassham; Ettore Bergamini; Xiaoning Bi; Martine Biard-Piechaczyk; Janice S Blum; Dale E Bredesen; Jeffrey L Brodsky; John H Brumell; Ulf T Brunk; Wilfried Bursch; Nadine Camougrand; Eduardo Cebollero; Francesco Cecconi; Yingyu Chen; Lih-Shen Chin; Augustine Choi; Charleen T Chu; Jongkyeong Chung; Peter G H Clarke; Robert S B Clark; Steven G Clarke; Corinne Clavé; John L Cleveland; Patrice Codogno; María I Colombo; Ana Coto-Montes; James M Cregg; Ana Maria Cuervo; Jayanta Debnath; Francesca Demarchi; Patrick B Dennis; Phillip A Dennis; Vojo Deretic; Rodney J Devenish; Federica Di Sano; J Fred Dice; Marian DiFiglia; Savithramma Dinesh-Kumar; Clark W Distelhorst; Mojgan Djavaheri-Mergny; Frank C Dorsey; Wulf Dröge; Michel Dron; William A Dunn; Michael Duszenko; N Tony Eissa; Zvulun Elazar; Audrey Esclatine; Eeva-Liisa Eskelinen; László Fésüs; Kim D Finley; Jose M. Fuentes; Juan Fueyo; Kozo Fujisaki; Brigitte Galliot; Fen-Biao Gao; David Gewirtz; Spencer B Gibson; Antje Gohla; Alfred L Goldberg; Ramon Gonzalez; Cristina González-Estévez; Sharon Gorski; Roberta Anne Gottlieb; Dieter Häussinger; You-Wen He; Kim Heidenreich; Joseph A Hill; Maria Høyer-Hansen; Xun Hu; Wei-Pang Huang; Akiko Iwasaki; Marja Jäättelä; William T Jackson; Xuejun Jiang; Shengkan Jin; Terje Johansen; Jae U. Jung; Motoni Kadowaki; Chanhee Kang; Ameeta Kelekar; David Kessel; Jan A K W Kiel; hong pyo kim; Adi Kimchi; Timothy J Kinsella; Kirill Kiselyov; Katsuhiko Kitamoto; Erwin Knecht; Masaaki Komatsu; Eiki Kominami; Seiji Kondo; Attila L Kovács; Guido Kroemer; Chia-Yi Kuan; Rakesh Kumar; Mondira Kundu; Jacques Landry; Marianne Laporte; Weidong Le; Huan-Yao Lei; Michael J Lenardo; Beth Levine; Andrew P Lieberman; Kah-Leong Lim; Fu-Cheng Lin; Willisa Liou; Leroy F Liu; Gabriel Lopez-Berestein; Carlos López-Otín; Bo Lu; Kay F Macleod; Walter Malorni; Wim Martinet; Ken Matsuoka; Josef Mautner; Alfred J Meijer; Alicia Meléndez; Paul Michels; Giovanni Miotto; wilhelm mistiaen; Noboru Mizushima; Baharia Mograbi; Iryna Monastyrska; Michael N Moore; Paula I Moreira; Yuji Moriyasu; Tomasz Motyl; Christian Münz; Leon O Murphy; Naweed I Naqvi; Thomas P Neufeld; Ichizo Nishino; Ralph A. Nixon; takeshi noda; Bernd Nürnberg; Michinaga Ogawa; Nancy L Oleinick; Laura J Olsen; Bulent Ozpolat; Shoshana Paglin; Glen E Palmer; Issidora Papassideri; Miles Parkes; David H Perlmutter; George Perry; Mauro Piacentini; Ronit Pinkas-Kramarski; Mark Prescott; Tassula Proikas-Cezanne; Nina Raben; Abdelhaq Rami; Fulvio Reggiori; Bärbel Rohrer; David C Rubinsztein; Kevin M Ryan; Junichi Sadoshima; Hiroshi Sakagami; Yasuyoshi Sakai; Marco Sandri; Chihiro Sasakawa; Miklós Sass; Claudio Schneider; Per O Seglen; Oleksandr Seleverstov; Jeffrey Settleman; John J Shacka; Irving M Shapiro; Andrei Sibirny; Elaine C M Silva-Zacarin; Hans-Uwe Simon; Cristiano Simone; Anne Simonsen; Mark A. Smith; Katharina Spanel-Borowski; Vickram Srinivas; Meredith Steeves; Harald Stenmark; Per E Stromhaug; Carlos S Subauste; Seiichiro Sugimoto; David Sulzer; Toshihiko Suzuki; Michele S Swanson; Ira Tabas; Fumihiko Takeshita; Nicholas J Talbot; Zsolt Tallóczy; Keiji Tanaka; Kozo Tanaka; Isei Tanida; Graham S Taylor; J. Paul Taylor; Alexei Terman; Gianluca Tettamanti; Craig Thompson; Michael Thumm; Aviva M Tolkovsky; Sharon A Tooze; Ray Truant; Lesya V Tumanovska; Yasuo Uchiyama; Takashi Ueno; Néstor L Uzcátegui; Ida van der Klei; Eva C Vaquero; Tibor Vellai; Michael W Vogel; Hong-Gang Wang; Paul Webster; John W Wiley; Zhijun Xi; Gutian Xiao; Joachim Yahalom; Jin-Ming Yang; George Yap; Xiao-Ming Yin; Tamotsu Yoshimori; Li Yu; Zhenyu Yue; Michisuke Yuzaki; Olga Zabirnyk; Xiaoxiang Zheng; Xiongwei Zhu; Russell L Deter
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes.
Autophagy 2008;4(2):151-75.
2008: T Tuñón; D Guerrero; A Urchaga; Ichizo Nishino; T Ayuso; Y Matsuda; M C Caballero; J Berjón; M A Imizcoz
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
Neuromuscular disorders : NMD 2008;18(2):167-74.
2008: I Sato; S Wu; M C A Ibarra; Yukiko K Hayashi; H Fujita; M Tojo; S J Oh; Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
Neurology 2008;70(2):114-22.
2008: Shintaro Yamashita; Ichizo Nishino; Ikuya Nonaka; Yu-Ichi Goto
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
Journal of human genetics 2008;53(7):598-606.
2008: Minoru Oishi; Kenji Miki; Akihiko Morita; Kazumi Fujioka; Shigeki Aoki; Ichizo Nishino; Ikuya Nonaka; Yu-ichi Goto; Tomohiko Mizutani
Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.
Internal medicine (Tokyo, Japan) 2008;47(5):441-4.
2008: Takahiro Tanabe; Makoto Fukusaki; Yoshiaki Terao; Kazunori Yamashita; Koji Sumikawa; Keiko Mukaida; Carlos A Ibarra; Ichizo Nishino
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.
Journal of anesthesia 2008;22(1):70-3.
2008: Satomi Okahashi; Go Ogawa; Mikiya Suzuki; Katsuhisa Ogata; Ichizo Nishino; Mitsuru Kawai
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: May Christine Malicdan; Satoru Noguchi; Ichizo Nishino
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: M N Astejada; Kanako Goto; A Nagano; S Ura; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino; Yukiko K Hayashi
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: T Migita; Keiko Mukaida; Masashi Kawamoto; M Kobayashi; Ichizo Nishino; O Yuget
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: May Christine Malicdan; Satoru Noguchi; Ikuya Nonaka; Yukiko K Hayashi; Ichizo Nishino
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: Iris Eisenberg; Alal Eran; Ichizo Nishino; Maurizio Moggio; Costanza Lamperti; Anthony A Amato; Hart G W Lidov; Peter B Kang; Kathryn N North; Stella Mitrani-Rosenbaum; Kevin M Flanigan; Lori A Neely; Duncan Whitney; Alan H Beggs; Isaac S Kohane; Louis Kunkel
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: Genri Kawahara; M Okada; N Morone; C A Ibarra; Ikuya Nonaka; Satoru Noguchi; Yukiko K Hayashi; Ichizo Nishino
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
Neurology 2007;69(10):1043-9.
2007: M Okada; Genri Kawahara; Satoru Noguchi; Kazuma Sugie; Kumiko Murayama; Ikuya Nonaka; Yukiko K Hayashi; Ichizo Nishino
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.
Neurology 2007;69(10):1035-42.
2007: J Aoki; T Yasuno; H Sugie; H Kido; Ichizo Nishino; Y Shigematsu; M Kanazawa; M Takayanagi; M Kumami; Kazuhiro Endo; Hidetoshi Kaneoka; M Yamaguchi; T Fukuda; Teiji Yamamoto
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
Neurology 2007;69(8):804-6.
2007: Shigehisa Ura; Yukiko K Hayashi; Kanako Goto; Mina Nolasco Astejada; Terumi Murakami; Masako Nagato; Shigeru Ohta; Yasuhisa Daimon; Hidehiro Takekawa; Koichi Hirata; Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
Limb-girdle muscular dystrophy due to emerin gene mutations.
Archives of neurology 2007;64(7):1038-41.
2007: E Matsubara; A Tsuchiya; N Minami; Ichizo Nishino; Miguel Pappolla; Mikio Shoji; K Abe
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: May Christine Malicdan; Satoru Noguchi; Ichizo Nishino
Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Autophagy 2007;3(4):396-8.
2007: Yi-Ching Lin; Terumi Murakami; Yukiko K Hayashi; Ichizo Nishino; Ikuya Nonaka; Chung-Yee Yuo; Yuh-Jyh Jong
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
Brain & development 2007;29(4):234-8.
2007: Yoshinori Nezu; Yoshihiro Kino; Noboru Sasagawa; Ichizo Nishino; Shoichi Ishiura
Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy.
Neuromuscular disorders : NMD 2007;17(4):306-12.
2007: Yoko Keira; Satoru Noguchi; Rumi Kurokawa; Masako Fujita; Narihiro Minami; Yukiko K Hayashi; Takashi Kato; Ichizo Nishino
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Neuroscience research 2007;57(4):513-21.
2007: Teerin Liewluck; Yukiko K Hayashi; Maki Ohsawa; Rumi Kurokawa; Masako Fujita; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.
Muscle & nerve 2007;35(3):322-6.
2007: Maki Ohsawa; Teerin Liewluck; Katuhisa Ogata; Takahiro Iizuka; Yukiko Hayashi; Ikuya Nonaka; Masayuki Sasaki; Ichizo Nishino
Familial reducing body myopathy.
Brain & development 2007;29(2):112-6.
2007: May Christine Malicdan; Satoru Noguchi; Ikuya Nonaka; Yukiko K Hayashi; Ichizo Nishino
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: Ichizo Nishino
Lysosomal myopathies.
Handbook of clinical neurology 2007;86():205-14.
2007: Seiichiro Sugimoto; Kazutaka Shiomi; Ayaka Yamamoto; Ichizo Nishino; Ikuya Nonaka; Takekazu Ohi
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.
Internal medicine (Tokyo, Japan) 2007;46(11):757-60.
2007: Noriyuki Watanabe; Toshikuni Sasaoka; Satoru Noguchi; Ichizo Nishino; Torahiko Tanaka
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.
2006: Maki Fukami; Yuka Wada; Kanako Miyabayashi; Ichizo Nishino; Tomonobu Hasegawa; Agneta Nordenskjöld; Giovanna Camerino; Christine Kretz; Anna Buj-Bello; Jocelyn Laporte; Gen Yamada; Ken-Ichirou Morohashi; Tsutomu Ogata
CXorf6 is a causative gene for hypospadias.
Nature genetics 2006;38(12):1369-71.
2006: Teerin Liewluck; Theeraphong Pho-iam; Chanin Limwongse; Wanna Thongnoppakhun; Kanokwan Boonyapisit; Natte Raksadawan; Kumiko Murayama; Yukiko K Hayashi; Ichizo Nishino; Tumtip Sangruchi
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
Muscle & nerve 2006;34(6):775-8.
2006: Terumi Murakami; Yukiko K Hayashi; Satoru Noguchi; Megumu Ogawa; Ikuya Nonaka; Yuzo Tanabe; Mieko Ogino; Fumio Takada; Makoto Eriguchi; Norihiko Kotooka; Kevin P Campbell; Makiko Osawa; Ichizo Nishino
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
Annals of neurology 2006;60(5):597-602.
2006: Michio Hirano; Ramon Martí; C Casali; Saba Tadesse; Thomas Uldrick; B Fine; Diana Escolar; Maria Lucia Valentino; Ichizo Nishino; Charles Hesdorffer; Joseph Schwartz; Ria Hawks; D L Martone; Mitchell S Cairo; Salvatore DiMauro; M Stanzani; JH Garvin; David G Savage
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
Neurology 2006;67(8):1458-60.
2006: Shinji Miura; Eriko Tomitsuka; Yasutomi Kamei; Tomomi Yamazaki; Yuko Kai; Mayumi Tamura; Kiyoshi Kita; Ichizo Nishino; Osamu Ezaki
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: William Wallefeld; Sabine Krause; Kristen J Nowak; Danielle E Dye; Rita Horváth; Zoltán Molnár; Miklós Szabó; Kazuhiro Hashimoto; Cristina Reina; Jose De Carlos; Jordi Rosell; Ana Cabello; Carmen Navarro; Ichizo Nishino; Hanns Lochmüller; Nigel G Laing
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: Yoshitaka Toriumi; Yuichi Takusa; Atsushi Uchiyama; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi; Isematsu Eda; Ichizo Nishino; Ikuya Nonaka
Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
Brain & development 2006;28(7):458-61.
2006: Ichizo Nishino
Autophagic vacuolar myopathy.
Seminars in pediatric neurology 2006;13(2):90-5.
2006: Carlos A Ibarra M; Shiwen Wu; Kumiko Murayama; Narihiro Minami; Yasuko Ichihara; Hirosato Kikuchi; Satoru Noguchi; Yukiko K Hayashi; Ryoichi Ochiai; Ichizo Nishino
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: Masahiko Inoue; Yoshihiro Wakayama; Hiroko Kojima; Seiji Shibuya; Takahiro Jimi; Hiroaki Oniki; Ichizo Nishino; Ikuya Nonaka
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy.
The Tohoku journal of experimental medicine 2006;209(2):109-16.
2006: Shiwen Wu; M Carlos A Ibarra; May Christine Malicdan; Kumiko Murayama; Yasuko Ichihara; Hirosato Kikuchi; Ikuya Nonaka; Satoru Noguchi; Yukiko K Hayashi; Ichizo Nishino
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: Adrian Phillip Scott; Richard J N Allcock; Frank L Mastaglia; Ichizo Nishino; Ikuya Nonaka; Nigel Laing
Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1.
Neuromuscular disorders : NMD 2006;16(5):311-5.
2006: Mariko Taniguchi; Hiroki Kurahashi; Satoru Noguchi; Takayasu Fukudome; Takeshi Okinaga; Toshifumi Tsukahara; Youichi Tajima; Keiichi Ozono; Ichizo Nishino; Ikuya Nonaka; Tatsushi Toda
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.
Human molecular genetics 2006;15(8):1279-89.
2006: Mariko Taniguchi; Hiroki Kurahashi; Satoru Noguchi; Jun Sese; Takeshi Okinaga; Toshifumi Tsukahara; Pascale Guicheney; Keiichi Ozono; Ichizo Nishino; Shinichi Morishita; Tatsushi Toda
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: Kanako Goto; Ichizo Nishino; Yukiko K Hayashi
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(4):256-61.
2006: Naomi Hino-Fukuyo; Kazuhiro Haginoya; Yukiko K Hayashi; Ichizo Nishino; Terumi Murakami; Ikuya Nonaka; Kaoru Togashi; Souichiro Tanaka; Masaru Takayanagi; Hiroyuki Yokoyama; Osamu Sakamoto; Toshiaki Abe; Tatsushi Toda; Kazuie Iinuma
A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit.
Neuromuscular disorders : NMD 2006;16(4):274-6.
2006: Haruko Maeda Sakamoto; Mieko Yoshioka; Masahiro Tsuji; Shigekazu Kuroki; Yoshihisa Higuchi; Ikuya Nonaka; Ichizo Nishino
A case of congenital neuromuscular disease with uniform type 1 fibers.
Brain & development 2006;28(3):202-5.
2006: Ritsuko Ozawa; Yukiko K Hayashi; Megumu Ogawa; Rumi Kurokawa; Hiroshi Matsumoto; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino
Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.
The American journal of pathology 2006;168(3):907-17.
2006: Michio Hirano; Ichizo Nishino; Yutaka Nishigaki; Ramon Martí
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Internal medicine (Tokyo, Japan) 2006;45(19):1103.
2006: Teerin Liewluck; Natte Raksadawan; Chanin Limwongse; Ichizo Nishino; Tumtip Sangruchi
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.
2005: Nobuyuki Murakami; Ryoichi Sakuta; Etsuro Takahashi; Yasuki Katada; Toshiro Nagai; Misao Owada; Ichizo Nishino; Ikuya Nonaka
Early onset distal muscular dystrophy with normal dysferlin expression.
Brain & development 2005;27(8):589-91.
2005: Ichizo Nishino; Satoru Noguchi; Kumiko Murayama; Aya Ohkuma; Naoki Kasahata; May Christine Malicdan; Yukiko K Hayashi; Ikuya Nonaka
[Molecular pathomechanism of distal myopathy with rimmed vacuoles].
Rinshō shinkeigaku = Clinical neurology 2005;45(11):943-5.
2005: C Yan; M Tanaka; Kazuma Sugie; T Nobutoki; M Woo; N Murase; Y Higuchi; Satoru Noguchi; Ikuya Nonaka; Yukiko K Hayashi; Ichizo Nishino
A new congenital form of X-linked autophagic vacuolar myopathy.
Neurology 2005;65(7):1132-4.
2005: Ichizo Nishino; May Christine Malicdan; Kumiko Murayama; Ikuya Nonaka; Yukiko K Hayashi; Satoru Noguchi
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: Satoru Noguchi; Masako Fujita; Kumiko Murayama; Rumi Kurokawa; Ichizo Nishino
Gene expression analyses in X-linked myotubular myopathy.
Neurology 2005;65(5):732-7.
2005: Ryoichi Sakuta; Nobuyuki Murakami; Yuko Jin; Toshiro Nagai; Ikuya Nonaka; Ichizo Nishino
Diagnostic significance of membrane attack complex and vitronectin in childhood dermatomyositis.
Journal of child neurology 2005;20(7):597-602.
2005: Kazuma Sugie; Satoru Noguchi; Yoshimichi Kozuka; Eri Arikawa-Hirasawa; Mikihito Tanaka; Chuanzhu Yan; Paul Saftig; Kurt von Figura; Michio Hirano; Satoshi Ueno; Ikuya Nonaka; Ichizo Nishino
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.
Journal of neuropathology and experimental neurology 2005;64(6):513-22.
2005: Nobuyuki Takahashi; Toshio Shimada; Yo Murakami; Harumi Katoh; Nobuyuki Oyake; Yutaka Ishibashi; Ichizo Nishino; Ikuya Nonaka; Yu-Ichi Goto
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: Rim Amouri; Adel Driss; Kumiko Murayama; Mounir Kefi; Ichizo Nishino; Faycal Hentati
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: Hiroshi Matsumoto; Yukiko K Hayashi; Dae-Son Kim; Megumu Ogawa; Terumi Murakami; Satoru Noguchi; Ikuya Nonaka; Tomoyuki Nakazawa; Takiko Matsuo; Satoshi Futagami; Kevin P Campbell; Ichizo Nishino
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Neuromuscular disorders : NMD 2005;15(5):342-8.
2005: Khean Jin Goh; Kum Thong Wong; Ichizo Nishino; Narihiro Minami; Ikuya Nonaka
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
Neuromuscular disorders : NMD 2005;15(3):262-4.
2005: Tzung-Chang Tsai; Hideo Horinouchi; Satoru Noguchi; Narihiro Minami; Kumiko Murayama; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
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: Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
Current neurology and neuroscience reports 2005;5(1):61-5.
2004: Toshiko Nagashima; Takayo Chuma; Yukio Mano; Yu-ichi Goto; Yukiko K Hayashi; Narihiro Minami; Ichizo Nishino; Ikuya Nonaka; Toshiaki Takahashi; Hirofumi Sawa; Masashi Aoki; Kazuo Nagashima
Dysferlinopathy associated with rigid spine syndrome.
Neuropathology : official journal of the Japanese Society of Neuropathology 2004;24(4):341-6.
2004: Kazuma Sugie; Kumiko Murayama; Satoru Noguchi; Nobuyuki Murakami; Mika Mochizuki; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
Two novel CAV3 gene mutations in Japanese families.
Neuromuscular disorders : NMD 2004;14(12):810-4.
2004: Ichizo Nishino; Yukiko K Hayashi; Satoru Noguchi
[The pathomechanism and the direction of therapy development in view of cDNA microarray].
Rinshō shinkeigaku = Clinical neurology 2004;44(11):905-7.
2004: 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
Actin mutations are one cause of congenital fibre type disproportion.
Annals of neurology 2004;56(5):689-94.
2004: Michio Hirano; Ramon Martí; antonella spinazzola; Ichizo Nishino; Yutaka Nishigaki
Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1217-25.
2004: K Kawabe; Kanako Goto; Ichizo Nishino; C Angelini; Yukiko K Hayashi
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: Y Ohashi; Y Hasegawa; Kumiko Murayama; Megumu Ogawa; T Hasegawa; M Kawai; N Sakata; K Yoshida; H Yarita; K Imai; I Kumagai; K Murakami; H Hasegawa; Satoru Noguchi; Ikuya Nonaka; S Yamaguchi; Ichizo Nishino
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Neurology 2004;62(12):2209-13.
2004: Kiwa Hama; Hideto Miwa; Ichizo Nishino; Ikuya Nonaka; Tomoyoshi Kondo
[Inclusion body myositis associated with chronic thyroiditis, Sjögren's syndrome and autoimmune cholangitis].
Nō to shinkei = Brain and nerve 2004;56(6):503-7.
2004: Hiroshi Matsumoto; Satoru Noguchi; Kazuma Sugie; Megumu Ogawa; Kumiko Murayama; Yukiko K Hayashi; Ichizo Nishino
Subcellular localization of fukutin and fukutin-related protein in muscle cells.
Journal of biochemistry 2004;135(6):709-12.
2004: Gaku Yamanaka; Kanako Goto; Tadayuki Ishihara; Yasushi Oya; Tasuku Miyajima; Akinori Hoshika; Ichizo Nishino; Yukiko K Hayashi
FSHD-like patients without 4q35 deletion.
Journal of the neurological sciences 2004;219(1-2):89-93.
2004: D S Kim; Yukiko K Hayashi; Hiroshi Matsumoto; Megumu Ogawa; Satoru Noguchi; N Murakami; R Sakuta; M Mochizuki; Daniel Michele; Kevin P Campbell; Ikuya Nonaka; Ichizo Nishino
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
Neurology 2004;62(6):1009-11.
2004: Satoru Noguchi; Yoko Keira; Kumiko Murayama; Megumu Ogawa; Masako Fujita; Genri Kawahara; Yasushi Oya; Masaoki Imazawa; Yu-Ichi Goto; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
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: H Ishikawa; Kazuma Sugie; Kumiko Murayama; A Awaya; Y Suzuki; Satoru Noguchi; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
Ullrich disease due to deficiency of collagen VI in the sarcolemma.
Neurology 2004;62(4):620-3.
2004: Kanako Goto; Ichizo Nishino; Yukiko K Hayashi
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.
Journal of medical genetics 2004;41(1):e12.
2004: Ramon Martí; antonella spinazzola; Saba Tadesse; Ichizo Nishino; Yutaka Nishigaki; Michio Hirano
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
Clinical chemistry 2004;50(1):120-4.
2003: Kazuma Sugie; Tateo Koori; Ayaka Yamamoto; Megumu Ogawa; Michio Hirano; Kiyoharu Inoue; Ikuya Nonaka; Ichizo Nishino
Characterization of Danon disease in a male patient and his affected mother.
Neuromuscular disorders : NMD 2003;13(9):708-11.
2003: Kotaro Morino; Yasusi Kita; Yukihiro Yoneda; Masayasu Tabuchi; Ichizo Nishino; Ikuya Nonaka
[Dropped head plus syndrome; a case report].
Rinshō shinkeigaku = Clinical neurology 2003;43(9):556-9.
2003: Harumi Ishikawa; Ikuya Nonaka; Ichizo Nishino
Negative result in search for human alpha-dystrobrevin deficiency.
Muscle & nerve 2003;28(3):387-8.
2003: M Nambu; K Kawabe; T Fukuda; T B Okuno; S Ohta; I Nonaka; H Sugie; Ichizo Nishino
A neonatal form of glycogen storage disease type IV.
Neurology 2003;61(3):392-4.
2003: Kazuhiko Tagawa; Megumu Ogawa; Kiyokazu Kawabe; Gaku Yamanaka; Tsuyoshi Matsumura; Kanako Goto; Ikuya Nonaka; Ichizo Nishino; Yukiko K Hayashi
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: D Kaneda; K Sugie; A Yamamoto; H Matsumoto; T Kato; I Nonaka; Ichizo Nishino
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement.
Neurology 2003;61(1):128-31.
2003: Ayumu Yoshikawa; Hiroaki Mitsuhashi; Noboru Sasagawa; Toshifumi Tsukahara; Yukiko Hayashi; Ichizo Nishino; Yu-ichi Goto; Shoichi Ishiura
Expression of ARPP-16/19 in rat denervated skeletal muscle.
Journal of biochemistry 2003;134(1):57-61.
2003: Koji Ikezoe; Hirokazu Furuya; Yasumasa Ohyagi; Manabu Osoegawa; Ichizo Nishino; Ikuya Nonaka; Jun-ichi Kira
Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress.
Acta neuropathologica 2003;105(6):603-9.
2003: Yoko Keira; Satoru Noguchi; Narihiro Minami; Yukiko K Hayashi; Ichizo Nishino
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: Adel Driss; Satoru Noguchi; Rim Amouri; Mounir Kefi; T Sasaki; Kazuma Sugie; S Souilem; Yukiko K Hayashi; N Shimizu; S Minoshima; J Kudoh; Faycal Hentati; Ichizo Nishino
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
Neurology 2003;60(8):1341-4.
2003: Satoru Noguchi; Toshifumi Tsukahara; Masako Fujita; Rumi Kurokawa; Masaji Tachikawa; Tatsushi Toda; Atsumi Tsujimoto; Kiichi Arahata; Ichizo Nishino
cDNA microarray analysis of individual Duchenne muscular dystrophy patients.
Human molecular genetics 2003;12(6):595-600.
2003: Sangmi Chang; Tatsuya Ishikawa; Ikuya Nonaka; Haruko Tsukamoto; Mariko Saito; Kyoko Ban; Ikuo Wada; Kazuma Sugie; Ichizo Nishino
[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: Kiyomi Taniguchi; Kazuhiro Kobayashi; Kayoko Saito; Hideo Yamanouchi; Akira Ohnuma; Yukiko K Hayashi; Hiroshi Manya; Dong Kyu Jin; Munhyang Lee; Enrico Parano; Raffaele Falsaperla; Piero Pavone; Rudy Van Coster; Beril Talim; Alice Steinbrecher; Volker Straub; Ichizo Nishino; Haluk Topaloglu; Thomas Voit; Tamao Endo; Tatsushi Toda
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Human molecular genetics 2003;12(5):527-34.
2003: Ichizo Nishino
Autophagic vacuolar myopathies.
Current neurology and neuroscience reports 2003;3(1):64-9.
2002: Ichizo Nishino; Satoru Noguchi; Kumiko Murayama; Adel Driss; Kazuma Sugie; Yasushi Oya; T Nagata; K Chida; T Takahashi; Y Takusa; T Ohi; J Nishimiya; N Sunohara; E Ciafaloni; M Kawai; M Aoki; Ikuya Nonaka
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Neurology 2002;59(11):1689-93.
2002: Guglielmina Pepe; Enrico Bertini; Paolo Bonaldo; Kate Bushby; Betti Giusti; Marianne De Visser; Pascale Guicheney; Giovanna Lattanzi; Luciano Merlini; Francesco Muntoni; Ichizo Nishino; Ikuya Nonaka; R Ben Yaou; Patrizia Sabatelli; Caroline Sewry; Haluk Topaloglu; Anneke J van der Kooi
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: Ramon Marti; antonella spinazzola; Ichizo Nishino; Antoni L Andreu; Ali Naini; Saba Tadesse; Juan A Oliver; Michio Hirano
Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.
Mitochondrion 2002;2(1-2):143-7.
2002: H Ishikawa; Kazuma Sugie; Kumiko Murayama; M Ito; Narihiro Minami; Ichizo Nishino; Ikuya Nonaka
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.
Neurology 2002;59(6):920-3.
2002: K Sugie; A Yamamoto; K Murayama; S J Oh; M Takahashi; M Mora; J E Riggs; Jaume Colomer; C Iturriaga; A Meloni; C Lamperti; S Saitoh; E Byrne; S DiMauro; I Nonaka; M Hirano; Ichizo Nishino
Clinicopathological features of genetically confirmed Danon disease.
Neurology 2002;58(12):1773-8.
2002: Tatsuya Yamasoba; Yu ichi Goto; Yoshitomo Oka; Ichizo Nishino; Katsunori Tsukuda; Ikuya Nonaka
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: Takashi Suzuki; Masahiro Nakagawa; Ayumu Yoshikawa; Noboru Sasagawa; Tamotsu Yoshimori; Yoshinori Ohsumi; Ichizo Nishino; Shoichi Ishiura; Ikuya Nonaka
The first molecular evidence that autophagy relates rimmed vacuole formation in chloroquine myopathy.
Journal of biochemistry 2002;131(5):647-51.
2002: Eri Arikawa-Hirasawa; Alexander H Le; Ichizo Nishino; Ikuya Nonaka; Nicola C. Ho; Clair A Francomano; Prasanthi Govindraj; John R Hassell; Joseph M Devaney; Jürgen Spranger; Roger E Stevenson; Susan Iannaccone; Marinos C Dalakas; Yoshihiko Yamada
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: Hiroshi Matsumoto; Ichizo Nishino
[Complex V deficiency].
Nihon rinsho. Japanese journal of clinical medicine 2002;60 Suppl 4():495-8.
2002: Ichizo Nishino; Michio Hirano
[MNGIE--thymidine phosphorylase deficiency].
Nihon rinsho. Japanese journal of clinical medicine 2002;60 Suppl 4():349-52.
2002: Hiroki Kano; Kazuhiro Kobayashi; Ralf Herrmann; Masaji Tachikawa; Hiroshi Manya; Ichizo Nishino; Ikuya Nonaka; Volker Straub; Beril Talim; Thomas Voit; Haluk Topaloglu; Tamao Endo; Hideki Yoshikawa; Tatsushi Toda
Deficiency of alpha-dystroglycan in muscle-eye-brain disease.
Biochemical and biophysical research communications 2002;291(5):1283-6.
2002: antonella spinazzola; Ramon Marti; Ichizo Nishino; Antoni L Andreu; Ali Naini; Saba Tadesse; Ivana Pela; Enrico Zammarchi; Maria Alice Donati; Juan A Oliver; Michio Hirano
Altered thymidine metabolism due to defects of thymidine phosphorylase.
The Journal of biological chemistry 2002;277(6):4128-33.
2002: Maki Tateyama; Masashi Aoki; Ichizo Nishino; Y K Hayashi; S Sekiguchi; Yusei Shiga; Toshiaki Takahashi; Yoshiaki Onodera; Kazuhiro Haginoya; K Kobayashi; K Iinuma; I Nonaka; K Arahata; Yasuto Itoyama; Y Itoyoma
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
Neurology 2002;58(2):323-5.
2001: I Nonaka; N Minami; J Chae; Y K Hayashi; Ichizo Nishino; K Arahata
[Recent advances in limb-girdle muscular dystrophy research].
Rinshō shinkeigaku = Clinical neurology 2001;41(12):1194-7.
2001: K Ikemoto-Tsuchiya; Ichizo Nishino; M Kawai; M Morimatsu; I Nonaka
A new form of muscular dystrophy with mitochondrial structural abnormalities.
Muscle & nerve 2001;24(12):1710-1.
2001: Michio Hirano; Ramon Marti; C Ferreiro-Barros; Maya R Vilà; Saba Tadesse; Yutaka Nishigaki; Ichizo Nishino; Tuan H Vu
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: A Yamamoto; Y Morisawa; Alain Verloes; N Murakami; M Hirano; I Nonaka; Ichizo Nishino
Infantile autophagic vacuolar myopathy is distinct from Danon disease.
Neurology 2001;57(5):903-5.
2001: E Ozawa; Ichizo Nishino; I Nonaka
Sarcolemmopathy: muscular dystrophies with cell membrane defects.
Brain pathology (Zurich, Switzerland) 2001;11(2):218-30.
2001: Ichizo Nishino
[X-linked myopathy with excessive autophagy].
Ryōikibetsu shōkōgun shirīzu 2001;(36):230-2.
2001: Ichizo Nishino
[Danon disease].
Ryōikibetsu shōkōgun shirīzu 2001;(36):225-9.
2001: Ichizo Nishino
[MNGIE (mitochondrial neurogastrointestinal encephalomyopathy)].
Ryōikibetsu shōkōgun shirīzu 2001;(36):160-3.
2001: H Ishikawa; Ichizo Nishino
[Chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS)].
Ryōikibetsu shōkōgun shirīzu 2001;(36):153-6.
2001: H Ishikawa; Ichizo Nishino
[Reducing body myopathy].
Ryōikibetsu shōkōgun shirīzu 2001;(35):424-6.
2001: A Yamamoto; Ichizo Nishino
[Fingerprint myopathy].
Ryōikibetsu shōkōgun shirīzu 2001;(35):423.
2001: A Yamamoto; Ichizo Nishino
[Congenital fiber type disproportion(CFTD)].
Ryōikibetsu shōkōgun shirīzu 2001;(35):421-2.
2001: Ichizo Nishino
[X-linked myotubular myopathy].
Ryōikibetsu shōkōgun shirīzu 2001;(35):418-20.
2001: Ichizo Nishino
[Centronuclear myopathy].
Ryōikibetsu shōkōgun shirīzu 2001;(35):414-7.
2001: Ichizo Nishino
[Myopathy, reducing body].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):255-6.
2001: Ichizo Nishino
[Myopathy, ocular with hypogonadism].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):253-4.
2001: A Yamamoto; Ichizo Nishino
[Myopathy, nemaline].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):251-2.
2001: Ichizo Nishino
[Myopathy, myotubular].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):249-50.
2001: Ichizo Nishino
[Myopathy, hereditary with lactic acidosis].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):247-8.
2001: A Yamamoto; Ichizo Nishino
[Myopathy, congenital fiber type disproportion].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):246.
2001: Ichizo Nishino
[Myopathy, central core disease type].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):244-5.
2001: H Ishikawa; Ichizo Nishino
[Malignant hyperthermia].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):129-30.
2001: Ichizo Nishino; antonella spinazzola; Michio Hirano
MNGIE: from nuclear DNA to mitochondrial DNA.
Neuromuscular disorders : NMD 2001;11(1):7-10.
2000: Ichizo Nishino; antonella spinazzola; A Papadimitriou; S Hammans; I Steiner; C D Hahn; A M Connolly; Alain Verloes; J Guimarães; Ivan P Maillard; H Hamano; Maria Alice Donati; Carol E Semrad; J A Russell; Antoni L Andreu; Georgios M Hadjigeorgiou; Tuan H Vu; Saba Tadesse; TG Nygaard; I Nonaka; I Hirano; Eduardo Bonilla; Lewis P Rowland; Salvatore DiMauro; Michio Hirano
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology 2000;47(6):792-800.
1999: TG Nygaard; Deborah Raymond; C Chen; Ichizo Nishino; Paul Greene; D Jennings; Gary A Heiman; Christine Klein; Rachel Saunders-Pullman; Patricia L Kramer; Laurie J Ozelius; Susan Bressman
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Annals of neurology 1999;46(5):794-8.
1999: Carolyn M Sue; Kurenai Tanji; Georgios M Hadjigeorgiou; Antoni L Andreu; Ichizo Nishino; S Krishna; Claudio Bruno; Michio Hirano; Sara Shanske; Eduardo Bonilla; Nathan Fischel-Ghodsian; Salvatore DiMauro; R Friedman
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: Ichizo Nishino; antonella spinazzola; Michio Hirano
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Science (New York, N.Y.) 1999;283(5402):689-92.
1999: Makoto Ikezawa; Ichizo Nishino; Y Goto; Teruhisa Miike; I Nonaka
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: Shigemi Kimura; S Sugino; Y Ohtani; Makoto Matsukura; Ichizo Nishino; Makoto Ikezawa; A Sakata; Y Kondo; Kowasi Yoshioka; Johnny Huard; I Nonaka; Teruhisa Miike
Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy.
Annals of neurology 1998;44(6):967-71.
1998: Ichizo Nishino; N Minami; O Kobayashi; Makoto Ikezawa; Y Goto; K Arahata; I Nonaka
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.
Neuromuscular disorders : NMD 1998;8(7):453-8.
1998: Michio Hirano; J Garcia-de-Yebenes; AC Jones; Ichizo Nishino; Salvatore DiMauro; Jose R Carlo; A N Bender; A F Hahn; L M Salberg; D E Weeks; TG Nygaard
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
American journal of human genetics 1998;63(2):526-33.
1998: Ichizo Nishino; I Nonaka
[Mitochondrial DNA depletion].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):501-4.
1998: Ichizo Nishino; I Nonaka
[Electron transfer complex III deficiency].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):494-6.
1998: Ichizo Nishino; O Kobayashi; Y Goto; M Kurihara; K Kumagai; T Fujita; K Hashimoto; S Horai; I Nonaka
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
Muscle & nerve 1998;21(1):40-7.