Works matching AU Noguchi, Satoru

Results: 66

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

Characterization of a regulatory gene, aveR, for the biosynthesis of avermectin in Streptomyces avermitilis.

Published in:

Applied Microbiology & Biotechnology, 2009, v. 82, n. 6, p. 1089, doi. 10.1007/s00253-008-1850-2

By:

Kitani, Shigeru;
Ikeda, Haruo;
Sakamoto, Takako;
Noguchi, Satoru;
Nihira, Takuya

Publication type:

Article

Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice.

Published in:

Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02514-3

By:

Nana Takenaka-Ninagawa;
Jinsol Kim;
Mingming Zhao;
Masae Sato;
Tatsuya Jonouchi;
Megumi Goto;
Clémence Kiho Bourgeois Yoshioka;
Rukia Ikeda;
Aya Harada;
Takahiko Sato;
Makoto Ikeya;
Akiyoshi Uezumi;
Masashi Nakatani;
Satoru Noguchi;
Hidetoshi Sakurai

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

Association of Dermatomyositis Sine Dermatitis With Anti–Nuclear Matrix Protein 2 Autoantibodies.

Published in:

JAMA Neurology, 2020, v. 77, n. 7, p. 872, doi. 10.1001/jamaneurol.2020.0673

By:

Inoue, Michio;
Tanboon, Jantima;
Hirakawa, Shinya;
Komaki, Hirofumi;
Fukushima, Takeshi;
Awano, Hiroyuki;
Tajima, Takashi;
Yamazaki, Kenji;
Hayashi, Ryutaro;
Mori, Tatsuo;
Shibuya, Kazumoto;
Yamanoi, Takahiko;
Yoshimura, Hajime;
Ogawa, Tomohiro;
Katayama, Atsushi;
Sugai, Fuminobu;
Nakayama, Yoichi;
Yamaguchi, Satoko;
Hayashi, Shinichiro;
Noguchi, Satoru

Publication type:

Article

A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24644-1

By:

Yamazawa, Toshiko;
Kobayashi, Takuya;
Kurebayashi, Nagomi;
Konishi, Masato;
Noguchi, Satoru;
Inoue, Takayoshi;
Inoue, Yukiko U.;
Nishino, Ichizo;
Mori, Shuichi;
Iinuma, Hiroto;
Manaka, Noriaki;
Kagechika, Hiroyuki;
Uryash, Arkady;
Adams, Jose;
Lopez, Jose R.;
Liu, Xiaochen;
Diggle, Christine;
Allen, Paul D.;
Kakizawa, Sho;
Ikeda, Keigo

Publication type:

Article

Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells.

Published in:

Journal of Biochemistry, 2004, v. 135, n. 6, p. 709, doi. 10.1093/jb/mvh086

By:

Matsumoto, Hiroshi;
Noguchi, Satoru;
Sugie, Kazuma;
Ogawa, Megumu;
Murayama, Kumiko;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle.

Published in:

Journal of Biochemistry, 2003, v. 133, n. 5, p. 659, doi. 10.1093/jb/mvg084

By:

Keira, Yoko;
Noguchi, Satoru;
Minami, Narihiro;
Hayashi, Yukiko K.;
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

Subretinal Precipitates of Retinal Detachments Associated with Intraocular Tumors.

Published in:

Ophthalmologica, 1988, v. 197, n. 3, p. 120, doi. 10.1159/000309931

By:

Takagi, Toshihiro;
Tsuda, Nobuo;
Watanabe, Fumio;
Noguchi, Satoru

Publication type:

Article

Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 11, p. 1006, doi. 10.1093/hmg/ddab100

By:

Nogami, Ken'ichiro;
Maruyama, Yusuke;
Sakai-Takemura, Fusako;
Motohashi, Norio;
Elhussieny, Ahmed;
Imamura, Michihiro;
Miyashita, Satoshi;
Ogawa, Megumu;
Noguchi, Satoru;
Tamura, Yuki;
Kira, Jun-ichi;
Aoki, Yoshitsugu;
Takeda, Shin'ichi;
Miyagoe-Suzuki, Yuko

Publication type:

Article

Superconductivity of (Pb0.75W0.25)Sr2(RE0.5Ca0.5)Cu2Oz (RE = Nd, Sm, Eu, Gd, Dy, Ho, Er, Tm, Yb, and Y) by Annealing in N2 Gas.

Published in:

Journal of Superconductivity & Novel Magnetism, 2020, v. 33, n. 12, p. 3667, doi. 10.1007/s10948-020-05628-6

By:

Sasakura, Hiroyuki;
Akagi, Yoshiya;
Nakagawa, Takeshi;
Noguchi, Satoru

Publication type:

Article

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.

Published in:

Muscle & Nerve, 2022, v. 65, n. 3, p. 284, doi. 10.1002/mus.27451

By:

Mori‐Yoshimura, Madoka;
Kimura, Ayano;
Tsuru, Ayumi;
Yajima, Hiroyuki;
Segawa, Kazuhiko;
Mizuno, Katsuhiro;
Oya, Yasushi;
Noguchi, Satoru;
Nishino, Ichizo;
Takahashi, Yuji

Publication type:

Article

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Published in:

2018

By:

Leoyklang, Petcharat;
Class, Bradley;
Noguchi, Satoru;
Gahl, William A.;
Carrillo, Nuria;
Nishino, Ichizo;
Huizing, Marjan;
Malicdan, May Christine

Publication type:

journal article

Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.

Published in:

2022

By:

Fujise, Kenshiro;
Noguchi, Satoru;
Takeda, Tetsuya

Publication type:

Literature Review

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1952, doi. 10.3390/ijms17111952

By:

Jong-Mok Lee;
Satoru Noguchi

Publication type:

Article

Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis.

Published in:

Journal of Neurology, 2025, v. 272, n. 3, p. 1, doi. 10.1007/s00415-025-12945-0

By:

Nishimori, Yukako;
Tanboon, Jantima;
Oyama, Munenori;
Motegi, Haruhiko;
Tomo, Yui;
Oba, Mari;
Yamanaka, Ai;
Sugie, Kazuma;
Suzuki, Shigeaki;
Hayashi, Shinichiro;
Noguchi, Satoru;
Nishino, Ichizo

Publication type:

Article

Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.

Published in:

Journal of Neurology, 2023, v. 270, n. 12, p. 5988, doi. 10.1007/s00415-023-11906-9

By:

Eura, Nobuyuki;
Noguchi, Satoru;
Ogasawara, Masashi;
Kumutpongpanich, Theerawat;
Hayashi, Shinichiro;
Nishino, Ichizo;
the OPDM/OPMD Image Study Group;
Mukaino, Takahiko;
Madoka, Mori-Yoshimura;
Nagai, Makiko;
Ochi, Masayuki;
Shibata, Makoto;
Shiomi, Kazutaka;
Yamashita, Satoshi;
Yamashita, Toru

Publication type:

Article

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

Published in:

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

By:

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

Publication type:

Article

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

Published in:

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

By:

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

Publication type:

Article

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

Published in:

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

By:

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

Publication type:

Article

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

Published in:

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

By:

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

Publication type:

Article

cDNA microarray analysis of individual Duchenne muscular dystrophy patients.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 6, p. 595, doi. 10.1093/hmg/ddg065

By:

Noguchi, Satoru;
Tsukahara, Toshifumi;
Fujita, Masako;
Kurokawa, Rumi;
Tachikawa, Masaji;
Toda, Tatsushi;
Tsujimoto, Atsumi;
Arahata, Kiichi;
Nishino, Ichizo

Publication type:

Article

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129

By:

Kim, Yeon-Jeong;
Noguchi, Satoru;
Hayashi, Yukiko K.;
Tsukahara, Toshifumi;
Shimizu, Takao;
Arahata, Kiichi

Publication type:

Article

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129

By:

Kim, Yeon-Jeong;
Noguchi, Satoru;
Hayashi, Yukiko K.

Publication type:

Article

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in Beta-sarcoglycan-deficient mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1589, doi. 10.1093/hmg/8.9.1589

By:

Araishi, Kenji;
Sasaoka, Toshikuni;
Imamura, Michihiro;
Noguchi, Satoru;
Hama, Hiroshi;
Wakabayashi, Eriko;
Yoshida, Mikiharu;
Hori, Tetsuro;
Ozawa, Eijiro

Publication type:

Article

Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1953, doi. 10.1093/hmg/5.12.1953

By:

Bönnemann, Carsten G.;
Passos-Bueno, M. Rita;
McNally, Elizabeth M.;
Vainzof, Mariz;
Moreira, Eloísa de Sá;
Marie, Suely K.;
Pavanello, Rita C. M.;
Noguchi, Satoru;
Ozawa, Eijiro;
Zatz, Mayana;
Kunkel, Louis M.

Publication type:

Article

Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841

By:

McNally, Elizabeth M.;
Duggan, David;
Rafael Gorospe, J.;
Bönnemann, Carsten G.;
Fanin, Marina;
Pegoraro, Elena;
Lidov, Hart G. W.;
Noguchi, Satoru;
Ozawa, Eijiro;
Finkel, Richard S.;
Cruse, Robert P.;
Angelini, Corrado;
Kunkel, Louis M.;
Hoffman, Eric P.

Publication type:

Article

Complex IV subunit isoform COX6A2 protects fast‐spiking interneurons from oxidative stress and supports their function.

Published in:

EMBO Journal, 2020, v. 39, n. 18, p. 1, doi. 10.15252/embj.2020105759

By:

Sanz‐Morello, Berta;
Pfisterer, Ulrich;
Winther Hansen, Nikolaj;
Demharter, Samuel;
Thakur, Ashish;
Fujii, Katsunori;
Levitskii, Sergey A;
Montalant, Alexia;
Korshunova, Irina;
Mammen, Pradeep PA;
Kamenski, Piotr;
Noguchi, Satoru;
Aldana, Blanca Irene;
Hougaard, Karin Sørig;
Perrier, Jean‐François;
Khodosevich, Konstantin

Publication type:

Article

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles.

Published in:

Amyloid, 2014, v. 21, n. 2, p. 138, doi. 10.3109/13506129.2014.889675

By:

Anada, Raj Poovindran;
Wong, Kum Thong;
Malicdan, May Christine;
Goh, Khean Jin;
Hayashi, Yukiko;
Nishino, Ichizo;
Noguchi, Satoru

Publication type:

Article

A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review.

Published in:

Neuropathology & Applied Neurobiology, 2024, v. 50, n. 4, p. 1, doi. 10.1111/nan.13004

By:

El Sherif, Rasha;
Saito, Yoshihiko;
Hussein, Rasha S.;
Izu, Yayoi;
Koch, Manuel;
Noguchi, Satoru;
Nishino, Ichizo

Publication type:

Article

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 3, p. 1, doi. 10.1111/nan.12787

By:

Ogasawara, Masashi;
Eura, Nobuyuki;
Nagaoka, Utako;
Sato, Tatsuro;
Arahata, Hajime;
Hayashi, Tomohiro;
Okamoto, Tomoko;
Takahashi, Yuji;
Mori‐Yoshimura, Madoka;
Oya, Yasushi;
Nakamura, Akinori;
Shimazaki, Rui;
Sano, Terunori;
Kumutpongpanich, Theerawat;
Minami, Narihiro;
Hayashi, Shinichiro;
Noguchi, Satoru;
Iida, Aritoshi;
Takao, Masaki;
Nishino, Ichizo

Publication type:

Article

A nationwide survey on marinesco-sjögren syndrome in Japan.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-58

By:

Masahide Goto;
Mari Okada;
Hirofumi Komaki;
Kenji Sugai;
Masayuki Sasaki;
Satoru Noguchi;
Ikuya Nonaka;
Ichizo Nishino;
Hayashi, Yukiko K.

Publication type:

Article

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Published in:

2014

By:

Goto, Masahide;
Okada, Mari;
Komaki, Hirofumi;
Sugai, Kenji;
Sasaki, Masayuki;
Noguchi, Satoru;
Nonaka, Ikuya;
Nishino, Ichizo;
Hayashi, Yukiko K

Publication type:

journal article

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.

Published in:

2022

By:

Hiramuki, Yosuke;
Kure, Yuriko;
Saito, Yoshihiko;
Ogawa, Megumu;
Ishikawa, Keiko;
Mori-Yoshimura, Madoka;
Oya, Yasushi;
Takahashi, Yuji;
Kim, Dae-Seong;
Arai, Noriko;
Mori, Chiaki;
Matsumura, Tsuyoshi;
Hamano, Tadanori;
Nakamura, Kenichiro;
Ikezoe, Koji;
Hayashi, Shinichiro;
Goto, Yuichi;
Noguchi, Satoru;
Nishino, Ichizo

Publication type:

journal article

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4

By:

Wen-Chen Liang;
Wenhua Zhu;
Satomi Mitsuhashi;
Satoru Noguchi;
Sacher, Michael;
Megumu Ogawa;
Hsiang-Hung Shih;
Yuh-Jyh Jong;
Ichizo Nishino

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

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

Published in:

Acta Neuropathologica, 2010, v. 119, n. 4, p. 481, doi. 10.1007/s00401-010-0660-7

By:

Tominaga, Kayo;
Hayashi, Yukiko K.;
Goto, Kanako;
Minami, Narihiro;
Noguchi, Satoru;
Nonaka, Ikuya;
Miki, Tetsuro;
Nishino, Ichizo

Publication type:

Article

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

Published in:

Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2

By:

Okubo, Mariko;
Noguchi, Satoru;
Awaya, Tomonari;
Hosokawa, Motoyasu;
Tsukui, Nobue;
Ogawa, Megumu;
Hayashi, Shinichiro;
Komaki, Hirofumi;
Mori-Yoshimura, Madoka;
Oya, Yasushi;
Takahashi, Yuji;
Fukuyama, Tetsuhiro;
Funato, Michinori;
Hosokawa, Yousuke;
Kinoshita, Satoru;
Matsumura, Tsuyoshi;
Nakamura, Sadao;
Oshiro, Azusa;
Terashima, Hiroshi;
Nagasawa, Tetsuro

Publication type:

Article

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4

By:

Okubo, Mariko;
Noguchi, Satoru;
Hayashi, Shinichiro;
Nakamura, Harumasa;
Komaki, Hirofumi;
Matsuo, Masafumi;
Nishino, Ichizo

Publication type:

Article

Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 53, doi. 10.3233/JND-200575

By:

Crowe, Kelly E.;
Zygmunt, Deborah A.;
Heller, Kristin;
Rodino-Klapac, Louise;
Noguchi, Satoru;
Nishino, Ichizo;
Martin, Paul T.

Publication type:

Article

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01482-w

By:

Ogasawara, Masashi;
Eura, Nobuyuki;
Iida, Aritoshi;
Kumutpongpanich, Theerawat;
Minami, Narihiro;
Nonaka, Ikuya;
Hayashi, Shinichiro;
Noguchi, Satoru;
Nishino, Ichizo

Publication type:

Article

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2670, doi. 10.1093/brain/awu210

By:

Yonekawa, Takahiro;
Malicdan, May Christine V.;
Cho, Anna;
Hayashi, Yukiko K.;
Nonaka, Ikuya;
Mine, Toshiki;
Yamamoto, Takeshi;
Nishino, Ichizo;
Noguchi, Satoru

Publication type:

Article

Central core disease is due to RYR1 mutations in more than 90% of patients.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1470

By:

Shiwen Wu;
M Carlos A. Ibarra;
May Christine V. Malicdan;
Kumiko Murayama;
Yasuko Ichihara;
Hirosato Kikuchi;
Ikuya Nonaka;
Satoru Noguchi;
Yukiko K. Hayashi;
Ichizo Nishino

Publication type:

Article

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.

Published in:

Nature Medicine, 2009, v. 15, n. 6, p. 690, doi. 10.1038/nm.1956

By:

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

TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy.

Published in:

Annals of Neurology, 2011, v. 69, n. 6, p. 1005, doi. 10.1002/ana.22338

By:

Liang, Wen-Chen;
Mitsuhashi, Hiroaki;
Keduka, Etsuko;
Nonaka, Ikuya;
Noguchi, Satoru;
Nishino, Ichizo;
Hayashi, Yukiko K.

Publication type:

Article

New aspects of π-d interactions in magnetic molecular conductors.

Published in:

Science & Technology of Advanced Materials, 2009, v. 10, n. 2, p. 1, doi. 10.1088/1468-6996/10/2/024302

By:

Sugimoto, Toyonari;
Fujiwara, Hideki;
Noguchi, Satoru;
Murata, Keizo

Publication type:

Article

Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy.

Published in:

Neurology & Clinical Neuroscience, 2022, v. 10, n. 6, p. 289, doi. 10.1111/ncn3.12583

By:

Yoshioka, Wakako;
Noguchi, Satoru;
Mori‐Yoshimura, Madoka;
Nishino, Ichizo

Publication type:

Article