Works by Nishino, Ichizo

Results: 269

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Published in:

2017

By:

Mariko Okubo;
Kanako Goto;
Hirofumi Komaki;
Harumasa Nakamura;
Madoka Mori-Yoshimura;
Yukiko K. Hayashi;
Satomi Mitsuhashi;
Satoru Noguchi;
En Kimura;
Ichizo Nishino;
Okubo, Mariko;
Goto, Kanako;
Komaki, Hirofumi;
Nakamura, Harumasa;
Mori-Yoshimura, Madoka;
Hayashi, Yukiko K;
Mitsuhashi, Satomi;
Noguchi, Satoru;
Kimura, En;
Nishino, Ichizo

Publication type:

journal article

Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.

Published in:

2016

By:

Akinori Uruha;
Shigeaki Suzuki;
Norihiro Suzuki;
Ichizo Nishino;
Allenbach, Yves;
Hervier, Baptise;
Stenzel, Werner;
Benveniste, Olivier;
Uruha, Akinori;
Suzuki, Shigeaki;
Suzuki, Norihiro;
Nishino, Ichizo

Publication type:

Letter

Development of an immunoprecipitation assay for detecting anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase autoantibodies using a non‐radioactive biotinylated recombinant protein.

Published in:

Clinical & Experimental Neuroimmunology, 2025, v. 16, n. 2, p. 88, doi. 10.1111/cen3.12810

By:

Nishikawa, Yukihiro;
Hasegawa, Kimiko;
Abe, Hiroki;
Matsuzawa, Shun;
Isayama, Takuya;
Nakashima, Ran;
Saito, Yoshihiko;
Nishino, Ichizo;
Kuwana, Masataka

Publication type:

Article

Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in RYR1-related myopathy: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 10, p. 1, doi. 10.1093/ehjcr/ytad509

By:

Maruo, Yuji;
Saito, Yoshihiko;
Nishino, Ichizo;
Takeda, Atsuhito

Publication type:

Article

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 8, p. 1, doi. 10.1093/ehjcr/ytad348

By:

Nagatomo, Yuji;
Yoshizawa, Saeko;
Oya, Yasushi;
Nishino, Ichizo

Publication type:

Article

Sick sinus syndrome concomitant with myopathy associated with anti-mitochondrial antibodies: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 6, p. 1, doi. 10.1093/ehjcr/ytac158

By:

Ishiguro, Maya;
Nagatomo, Yuji;
Inoue, Kanki;
Yoshikawa, Tsutomu;
Yoshizawa, Saeko;
Oya, Yasushi;
Nishino, Ichizo;
Isobe, Mitsuaki

Publication type:

Article

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA<sup>Trp</sup>.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0227-x

By:

Hideyuki Hatakeyama;
Ayako Katayama;
Hirofumi Komaki;
Ichizo Nishino;
Yu-ichi Goto

Publication type:

Article

A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.

Published in:

2022

By:

Matsumoto, Ayumi;
Tsuda, Hidetoshi;
Furui, Sadahiro;
Kawada‐Nagashima, Masako;
Anzai, Tatsuya;
Seki, Mitsuru;
Watanabe, Kazuhisa;
Muramatsu, Kazuhiro;
Osaka, Hitoshi;
Iwamoto, Sadahiko;
Nishino, Ichizo;
Yamagata, Takanori

Publication type:

Case Study

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.621

By:

Nishikawa, Atsuko;
Iida, Aritoshi;
Hayashi, Shinichiro;
Okubo, Mariko;
Oya, Yasushi;
Yamanaka, Gaku;
Takahashi, Ikuko;
Nonaka, Ikuya;
Noguchi, Satoru;
Nishino, Ichizo

Publication type:

Article

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Published in:

JAMA Neurology, 2021, v. 78, n. 7, p. 853, doi. 10.1001/jamaneurol.2021.1509

By:

Kumutpongpanich, Theerawat;
Ogasawara, Masashi;
Ozaki, Ayami;
Ishiura, Hiroyuki;
Tsuji, Shoji;
Minami, Narihiro;
Hayashi, Shinichiro;
Noguchi, Satoru;
Iida, Aritoshi;
Nishino, Ichizo;
Mori-Yoshimura, Madoka;
Oya, Yasushi;
Ono, Kenjiro;
Shimizu, Toshio;
Kawata, Akihiro;
Shimohama, Shun;
Toyooka, Keiko;
Endo, Kaoru;
Toru, Shuta;
Sasaki, Oga

Publication type:

Article

Skeletal Muscle Involvement in Antisynthetase Syndrome.

Published in:

JAMA Neurology, 2017, v. 74, n. 8, p. 992, doi. 10.1001/jamaneurol.2017.0934

By:

Eri Noguchi;
Akinori Uruha;
Shigeaki Suzuki;
Kohei Hamanaka;
Yuko Ohnuki;
Jun Tsugawa;
Yurika Watanabe;
Jin Nakahara;
Takashi Shiina;
Norihiro Suzuki;
Ichizo Nishino

Publication type:

Article

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.

Published in:

2011

By:

Takeda, Atsuhito;
Sudo, Akira;
Yamada, Masafumi;
Yamazawa, Hirokuni;
Izumi, Gaku;
Nishino, Ichizo;
Ariga, Tadashi

Publication type:

journal article

Eponym: Barth syndrome.

Published in:

2011

By:

Takeda, Atsuhito;
Sudo, Akira;
Yamada, Masafumi;
Yamazawa, Hirokuni;
Izumi, Gaku;
Nishino, Ichizo;
Ariga, Tadashi

Publication type:

journal article

Immune-mediated necrotizing myopathy in a multi-ethnic Malaysian cohort.

Published in:

Neurology Asia, 2021, v. 26, n. 2, p. 291

By:

Cheng-Yin Tan;
Ambang, Tomica;
Raja, Jasmin;
Shahrizaila, Nortina;
Sockalingam, Sargunan;
Shigeaki Suzuki;
Ichizo Nishino;
Kum-Thong Wong;
Khean-Jin Goh

Publication type:

Article

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

Published in:

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

By:

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

Publication type:

Article

Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium.

Published in:

Internal Medicine, 2025, v. 64, n. 2, p. 329, doi. 10.2169/internalmedicine.3974-24

By:

Shogo Komaki;
Akatsuki Kubota;
Kazuto Katsuse;
Asuka Kitamura;
Meiko Maeda;
Takashi Matsukawa;
Nobuyuki Eura;
Yoshihiko Saito;
Ichizo Nishino;
Tatsushi Toda

Publication type:

Article

Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium.

Published in:

Internal Medicine, 2025, v. 64, n. 1, p. 329, doi. 10.2169/internalmedicine.3974-24

By:

Shogo Komaki;
Akatsuki Kubota;
Kazuto Katsuse;
Asuka Kitamura;
Meiko Maeda;
Takashi Matsukawa;
Nobuyuki Eura;
Yoshihiko Saito;
Ichizo Nishino;
Tatsushi Toda

Publication type:

Article

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.

Published in:

Internal Medicine, 2024, v. 63, n. 24, p. 3371, doi. 10.2169/internalmedicine.3417-23

By:

Yosuke Takeuchi;
Teruaki Masuda;
Noriyuki Kimura;
Kaori Sumi;
Mika Jikumaru;
Nobuyuki Eura;
Ichizo Nishino;
Etsuro Matsubara

Publication type:

Article

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G＞A and a Novel Variant of c.1331C＞T in CAPN3.

Published in:

Internal Medicine, 2024, v. 63, n. 22, p. 3083, doi. 10.2169/internalmedicine.3435-23

By:

Shogo Komaki;
Akatsuki Kubota;
Kazuto Katsuse;
Asuka Kitamura;
Meiko Maeda;
Takashi Matsukawa;
Nobuyuki Eura;
Yoshihiko Saito;
Ichizo Nishino;
Tatsushi Toda

Publication type:

Article

Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome.

Published in:

Internal Medicine, 2024, v. 63, n. 19, p. 2683, doi. 10.2169/internalmedicine.3092-23

By:

Tsuyoshi Hamaguchi;
Ichizo Nishino;
Yasuki Hirano;
Nobuaki Uchida;
Michiyo Fujita-Nakata;
Megumi Nakanishi;
Tomoyuki Sakai;
Masato Asahina

Publication type:

Article

Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy.

Published in:

Internal Medicine, 2024, v. 63, n. 12, p. 1813, doi. 10.2169/internalmedicine.2720-23

By:

Koji Fukushima;
Takeshi Yoshida;
Hiroki Yamazaki;
Naoko Takamatsu;
Takashi Nagai;
Yusuke Osaki;
Masafumi Harada;
Ichizo Nishino;
Naoko Okiyama;
Kazuma Sugie;
Yuishin Izumi

Publication type:

Article

Immune-mediated Necrotizing Myopathy in a Patient with Microscopic Polyangiitis.

Published in:

Internal Medicine, 2024, v. 63, n. 10, p. 1485, doi. 10.2169/internalmedicine.2583-23

By:

Daichi Umemoto;
Yohei Kanzawa;
Tomoko Nakamura;
Ichizo Nishino;
Shimpei Mizuki;
Jun Ohnishi;
Takahiro Nakajima;
Naoto Ishimaru;
Saori Kinami

Publication type:

Article

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.

Published in:

Internal Medicine, 2023, v. 62, n. 20, p. 3027, doi. 10.2169/internalmedicine.0425-22

By:

Koichi Miyashita;
Yuichiro Ii;
Hirofumi Matsuyama;
Atsushi Niwa;
Yosuke Kawana;
Soshi Shibata;
Narihiro Minami;
Ichizo Nishino;
Hidekazu Tomimoto

Publication type:

Article

Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy.

Published in:

Internal Medicine, 2023, v. 62, n. 15, p. 2261, doi. 10.2169/internalmedicine.0798-22

By:

Kazuna Ikeda;
Daisuke Yamamoto;
Keiko Usui;
Hiroki Takeuchi;
Nobuyuki Oka;
Nagaaki Katoh;
Masahide Yazaki;
Fuyuki Kametani;
Ichizo Nishino;
Shin Hisahara

Publication type:

Article

Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy.

Published in:

Internal Medicine, 2023, v. 62, n. 9, p. 1345, doi. 10.2169/internalmedicine.0202-22

By:

Asami Munekane;
Yutaka Ohsawa;
Mariko Okubo;
Taiji Nagai;
Hirotake Nishimura;
Ichizo Nishino;
Yoshihide Sunada

Publication type:

Article

Inflammatory Myopathy Associated with Anti-mitochondrial Antibody-negative Primary Biliary Cholangitis Diagnosed by a Liver Biopsy.

Published in:

Internal Medicine, 2023, v. 62, n. 5, p. 797, doi. 10.2169/internalmedicine.9666-22

By:

Mitsuhiro Kainaga;
Takuya Sasaki;
Mizuki Kitamura;
Takahiro Nakayama;
Keita Masuda;
Yukio Kakuta;
Ichizo Nishino;
Ichiro Imafuku

Publication type:

Article

Resection of Gastric Cancer Remitted Anti-signal Recognition Particle Myopathy.

Published in:

Internal Medicine, 2022, v. 61, n. 16, p. 2509, doi. 10.2169/internalmedicine.9055-21

By:

Yoshihide Sehara;
Kyoichiro Tsuchiya;
Ichizo Nishino;
Hirotake Sato;
Yoshihito Ando

Publication type:

Article

Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.

Published in:

Internal Medicine, 2022, v. 61, n. 12, p. 1897, doi. 10.2169/internalmedicine.8314-21

By:

Mizuki Ito;
Sayuri Shima;
Ryunosuke Nagao;
Shoko Nakano;
Konoka Esaka;
Akihiro Ueda;
Shingo Maeda;
Ryoma Moriya;
Masashi Kondo;
Kazuyoshi Imaizumi;
Seiya Noda;
Masahisa Katsuno;
Ichizo Nishino;
Hirohisa Watanabe

Publication type:

Article

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Published in:

Internal Medicine, 2022, v. 61, n. 10, p. 1587, doi. 10.2169/internalmedicine.7733-21

By:

Yasuteru Sano;
Satoko Ota;
Mariko Oishi;
Masaya Honda;
Masatoshi Omoto;
Motoharu Kawai;
Mariko Okubo;
Ichizo Nishino;
Takashi Kanda

Publication type:

Article

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.

Published in:

Internal Medicine, 2022, v. 61, n. 8, p. 1241, doi. 10.2169/internalmedicine.8137-21

By:

Asami Munekane;
Yutaka Ohsawa;
Tokiko Fukuda;
Hirotake Nishimura;
Shin-ichiro Nishimatsu;
Hideo Sugie;
Yoshihiko Saito;
Ichizo Nishino;
Yoshihide Sunada

Publication type:

Article

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

Published in:

Internal Medicine, 2022, v. 61, n. 4, p. 547, doi. 10.2169/internalmedicine.7767-21

By:

Tomoya Kawazoe;
Shinsuke Tobisawa;
Keizo Sugaya;
Akinori Uruha;
Kazuhito Miyamoto;
Takashi Komori;
Yu-ichi Goto;
Ichizo Nishino;
Hiroshi Yoshihashi;
Takeshi Mizuguchi;
Naomichi Matsumoto;
Naohiro Egawa;
Akihiro Kawata;
Eiji Isozaki

Publication type:

Article

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0524-x

By:

Naoki Suzuki;
Madoka Mori-Yoshimura;
Satoshi Yamashita;
Satoshi Nakano;
Ken-ya Murata;
Yukie Inamori;
Naoko Matsui;
En Kimura;
Hirofumi Kusaka;
Tomoyoshi Kondo;
Itsuro Higuchi;
Ryuji Kaji;
Maki Tateyama;
Rumiko Izumi;
Hiroya Ono;
Masaaki Kato;
Hitoshi Warita;
Toshiaki Takahashi;
Ichizo Nishino;
Masashi Aoki

Publication type:

Article

Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0277-y

By:

Shigeaki Suzuki;
Atsuko Nishikawa;
Masataka Kuwana;
Hiroaki Nishimura;
Yurika Watanabe;
Jin Nakahara;
Yukiko K. Hayashi;
Norihiro Suzuki;
Ichizo Nishino

Publication type:

Article

A 53‐year‐old man with a 16‐year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging.

Published in:

Brain Pathology, 2023, v. 33, n. 5, p. 1, doi. 10.1111/bpa.13171

By:

Tanboon, Jantima;
El Sherif, Rasha;
Inoue, Michio;
Okubo, Mariko;
Malfatti, Edoardo;
Nishino, Ichizo

Publication type:

Article

Muscle pathology of antisynthetase syndrome according to antibody subtypes.

Published in:

Brain Pathology, 2023, v. 33, n. 4, p. 1, doi. 10.1111/bpa.13155

By:

Tanboon, Jantima;
Inoue, Michio;
Hirakawa, Shinya;
Tachimori, Hisateru;
Hayashi, Shinichiro;
Noguchi, Satoru;
Okiyama, Naoko;
Fujimoto, Manabu;
Suzuki, Shigeaki;
Nishino, Ichizo

Publication type:

Article

A 7‐year‐old female with hypotonia and scoliosis.

Published in:

Brain Pathology, 2022, v. 32, n. 6, p. 1, doi. 10.1111/bpa.13076

By:

Saito, Yoshihiko;
Baba, Shimpei;
Komaki, Hirofumi;
Nishino, Ichizo

Publication type:

Article

Inflammatory features in sporadic late‐onset nemaline myopathy are independent from monoclonal gammopathy.

Published in:

Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12962

By:

Tanboon, Jantima;
Uruha, Akinori;
Arahata, Yukie;
Dittmayer, Carsten;
Schweizer, Leonille;
Goebel, Hans‐Hilmar;
Nishino, Ichizo;
Stenzel, Werner

Publication type:

Article

A 67‐Year‐Old Man with Leg Weakness and Hypertrophic Cardiomyopathy.

Published in:

Brain Pathology, 2020, v. 30, n. 2, p. 427, doi. 10.1111/bpa.12824

By:

Kawazoe, Tomoya;
Uruha, Akinori;
Mori‐Yoshimura, Madoka;
Saito, Yuko;
Ikeda, Shu‐ichi;
Saji, Mike;
Tanimura, Akira;
Amano, Tomofumi;
Okamoto, Tomoko;
Oya, Yasushi;
Murata, Miho;
Nishino, Ichizo;
Takahashi, Yuji

Publication type:

Article

A 62-Year-Old Woman with A History of Muscle Pain and Skin Rash for 1 Month.

Published in:

Brain Pathology, 2018, v. 28, n. 1, p. 121, doi. 10.1111/bpa.12574

By:

Tanboon, Jantima;
Uruha, Akinori;
Hamanaka, Kohei;
Hasegawa, Juri;
Nishino, Ichizo

Publication type:

Article

A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.

Published in:

Brain Pathology, 2018, v. 28, n. 1, p. 123, doi. 10.1111/bpa.12575

By:

Uruha, Akinori;
Hayashi, Yukiko K.;
Mori‐Yoshimura, Madoka;
Oya, Yasushi;
Kanai, Masahiro;
Murata, Miho;
Nishino, Ichizo

Publication type:

Article

2 Month-Old Male with Hypotonia.

Published in:

2015

By:

Tanboon, Jantima;
Viravan, Sorawit;
Hayashi, Yukiko K.;
Nishino, Ichizo;
Sangruchi, Tumtip

Publication type:

Other

Autophagy in Lysosomal Myopathies.

Published in:

Brain Pathology, 2012, v. 22, n. 1, p. 82, doi. 10.1111/j.1750-3639.2011.00543.x

By:

Malicdan, May Christine V.;
Nishino, Ichizo

Publication type:

Article

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Published in:

2019

By:

Inoue, Michio;
Uchino, Shumpei;
Iida, Aritoshi;
Noguchi, Satoru;
Hayashi, Shinichiro;
Takahashi, Tsutomu;
Fujii, Katsunori;
Komaki, Hirofumi;
Takeshita, Eri;
Nonaka, Ikuya;
Okada, Yukinori;
Yoshizawa, Takuya;
Van Lommel, Leentje;
Schuit, Frans;
Goto, Yu‐ichi;
Mimaki, Masakazu;
Nishino, Ichizo;
Goto, Yu-Ichi

Publication type:

journal article

Monoclonal gammopathy of renal significance (MGRS)-related AL amyloidosis complicated by amyloid myopathy: a case report.

Published in:

2021

By:

Ono, Erina;
Ishii, Akira;
Higashi, Yoshiaki;
Koita, Natsuko;
Ayaki, Takashi;
Tanigaki, Katsuya;
Takayanagi, Shunsuke;
Kondo, Naoya;
Sakai, Kaoru;
Endo, Shuichiro;
Yokoi, Hideki;
Matsubara, Takeshi;
Minamiguchi, Sachiko;
Nishino, Ichizo;
Takahashi, Ryosuke;
Yanagita, Motoko

Publication type:

journal article

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 301, doi. 10.1007/s10545-011-9393-6

By:

Furusawa, Yoshihiko;
Mori-Yoshimura, Madoka;
Yamamoto, Toshiyuki;
Sakamoto, Chikako;
Wakita, Mizuki;
Kobayashi, Yoko;
Fukumoto, Yutaka;
Oya, Yasushi;
Fukuda, Tokiko;
Sugie, Hideo;
Hayashi, Yukiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Murata, Miho

Publication type:

Article

Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 169, doi. 10.1002/humu.24307

By:

Fujise, Kenshiro;
Okubo, Mariko;
Abe, Tadashi;
Yamada, Hiroshi;
Takei, Kohji;
Nishino, Ichizo;
Takeda, Tetsuya;
Noguchi, Satoru

Publication type:

Article

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Published in:

Acta Neuropathologica, 2023, v. 145, n. 2, p. 235, doi. 10.1007/s00401-022-02530-4

By:

Inoue, Michio;
Noguchi, Satoru;
Inoue, Yukiko U.;
Iida, Aritoshi;
Ogawa, Megumu;
Bengoechea, Rocio;
Pittman, Sara K.;
Hayashi, Shinichiro;
Watanabe, Kazuki;
Hosoi, Yasushi;
Sano, Terunori;
Takao, Masaki;
Oya, Yasushi;
Takahashi, Yuji;
Miyajima, Hiroaki;
Weihl, Conrad C.;
Inoue, Takayoshi;
Nishino, Ichizo

Publication type:

Article

A recurrent homozygous ACTN2 variant associated with core myopathy.

Published in:

Acta Neuropathologica, 2021, v. 142, n. 4, p. 785, doi. 10.1007/s00401-021-02363-7

By:

Inoue, Michio;
Noguchi, Satoru;
Sonehara, Kyuto;
Nakamura-Shindo, Keiko;
Taniguchi, Akira;
Kajikawa, Hiroyuki;
Nakamura, Hisayoshi;
Ishikawa, Keiko;
Ogawa, Megumu;
Hayashi, Shinichiro;
Okada, Yukinori;
Kuru, Satoshi;
Iida, Aritoshi;
Nishino, Ichizo

Publication type:

Article

Possible correlation between serum interleukin-8 levels and the activity of myositis in anti-NXP2 antibody-positive dermatomyositis.

Published in:

Immunological Medicine, 2024, v. 47, n. 2, p. 100, doi. 10.1080/25785826.2023.2300553

By:

Konishi, Risa;
Ichimura, Yuki;
Tanaka, Ryota;
Miyahara, Hanako;
Okune, Mari;
Miyamoto, Masahide;
Hara, Monami;
Iwabuchi, Atsushi;
Takada, Hidetoshi;
Nakagishi, Yasuo;
Mizuta, Mao;
Kaneko, Shuya;
Shimizu, Masaki;
Morio, Tomohiro;
Nishino, Ichizo;
Nomura, Toshifumi;
Okiyama, Naoko

Publication type:

Article

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 2, p. 183, doi. 10.1177/22143602241296226

By:

Suzuki, Naoki;
Mori-Yoshimura, Madoka;
Nishino, Ichizo;
Aoki, Masashi

Publication type:

Article