Works matching AU Nishino, Ichizo

Results: 268

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

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

Pediatric immune-mediated necrotizing myopathy with anti-SRP antibodies targeting 19, 68, and 72 kda subunits.

Published in:

2025

By:

Kato, Daigo;
Sato, Yoshitake;
Mitsunaga, Kanako;
Aoyama, Hiromi;
Okiyama, Naoko;
Nishino, Ichizo;
Tomiita, Minako;
Inoue, Yuzaburo

Publication type:

Case Study

Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset.

Published in:

Internal Medicine, 2025, v. 64, n. 10, p. 1586, doi. 10.2169/internalmedicine.4538-24

By:

Kenji Sakai;
Shota Yamada;
Yo Higuchi;
Ichizo Nishino

Publication type:

Article

A case of vesiculobullous dermatomyositis with anti-NXP-2 antibody without malignancy.

Published in:

Modern Rheumatology Case Reports, 2025, v. 9, n. 1, p. 84, doi. 10.1093/mrcr/rxae037

By:

Ryota Naito;
Ryosuke Hiwa;
Ryuta Inaba;
Kosaku Murakami;
Akihiko Kitoh;
Yo Kaku;
Teruasa Murata;
Yuki Ichimura;
Naoko Okiyama;
Ichizo Nishino;
Mirei Shirakashi;
Hideo Onizawa;
Hideaki Tsuji;
Koji Kitagori;
Shuji Akizuki;
Ran Nakashima;
Akira Onishi;
Masao Tanakai;
Hajime Yoshifuji;
Akio Morinobu

Publication type:

Article

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 115, doi. 10.1007/s10048-012-0315-z

By:

Boyden, Steven;
Mahoney, Lane;
Kawahara, Genri;
Myers, Jennifer;
Mitsuhashi, Satomi;
Estrella, Elicia;
Duncan, Anna;
Dey, Friederike;
DeChene, Elizabeth;
Blasko-Goehringer, Jessica;
Bönnemann, Carsten;
Darras, Basil;
Mendell, Jerry;
Lidov, Hart;
Nishino, Ichizo;
Beggs, Alan;
Kunkel, Louis;
Kang, Peter

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

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 443, doi. 10.1002/humu.22760

By:

Puppo, Francesca;
Dionnet, Eugenie;
Gaillard, Marie‐Cécile;
Gaildrat, Pascaline;
Castro, Christel;
Vovan, Catherine;
Bertaux, Karine;
Bernard, Rafaelle;
Attarian, Shahram;
Goto, Kanako;
Nishino, Ichizo;
Hayashi, Yukiko;
Magdinier, Frédérique;
Krahn, Martin;
Helmbacher, Françoise;
Bartoli, Marc;
Lévy, Nicolas

Publication type:

Article

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 773, doi. 10.1002/humu.21501

By:

Kubota, Tomoya;
Roca, Xavier;
Kimura, Takashi;
Kokunai, Yosuke;
Nishino, Ichizo;
Sakoda, Saburo;
Krainer, Adrian R.;
Takahashi, Masanori P.

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

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1311, doi. 10.1002/acn3.50831

By:

Yu, Meng;
Zhu, Ying;
Xie, Zhiying;
Zheng, Yiming;
Xiao, Jiangxi;
Zhang, Wei;
Nishino, Ichizo;
Yuan, Yun;
Wang, Zhaoxia

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

Editorial: Inflammatory muscle diseases: an update.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1259275

By:

Jantima Tanboon;
Needham, Merrilee;
Mozaffar, Tahseen;
Stenzel, Werner;
Ichizo Nishino

Publication type:

Article

Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.

Published in:

European Neurology, 2020, v. 83, n. 3, p. 317, doi. 10.1159/000508346

By:

Samukawa, Makoto;
Nakamura, Naoko;
Hirano, Makito;
Morikawa, Miyuki;
Sakata, Hanami;
Nishino, Ichizo;
Izumi, Rumiko;
Suzuki, Naoki;
Kuroda, Hiroshi;
Shiga, Kensuke;
Saigoh, Kazumasa;
Aoki, Masashi;
Kusunoki, Susumu

Publication type:

Article

A Case of Amyloid Myopathy Mimicking Anti-Mi-2 Antibody-Positive Myositis: Amyloid Myopathy Resembling IIM: Nishigaichi et al.

Published in:

JGIM: Journal of General Internal Medicine, 2025, v. 40, n. 2, p. 479, doi. 10.1007/s11606-024-09012-1

By:

Nishigaichi, Akira;
Amano, Yu;
Sada, Ryuichi Minoda;
Miyake, Hirofumi;
Maruyama, Wataru;
Tagawa, Shunsuke;
Akebo, Hiroyuki;
Hatta, Kazuhiro;
Nishino, Ichizo

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

Sarcolemmopathy: Muscular Dystrophies with Cell Membrane Defects.

Published in:

Brain Pathology, 2001, v. 11, n. 2, p. 218, doi. 10.1111/j.1750-3639.2001.tb00394.x

By:

Ozawa, Eijiro;
Nishino, Ichizo;
Nonaka, Ikuya

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

LARGE can functionally bypass a-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

Published in:

Nature Medicine, 2004, v. 10, n. 7, p. 696, doi. 10.1038/nm1059

By:

Barresi, Rita;
Michele, Daniel E;
Kanagawa, Motoi;
Harper, Hollie A;
Dovico, Sherri A;
Satz, Jakob S;
Moore, Steven A;
Zhang, Wenli;
Schachter, Harry;
Dumanski, Jan P;
Cohn, Ronald D;
Nishino, Ichizo;
Campbell, Kevin P

Publication type:

Article

Corrigendum: Cxorf6 is a causative gene for hypospadias.

Published in:

2007

By:

Fukami, Maki;
Wada, Yuka;
Miyabayashi, Kanako;
Nishino, Ichizo;
Hasegawa, Tomonobu;
Camerino, Giovanna;
Kretz, Christine;
Buj-Bello, Anna;
Laporte, Jocelyn;
Yamada, Gen;
Morohashi, Ken-ichirou;
Ogata, Tsutomu

Publication type:

Correction Notice

CXorf6 is a causative gene for hypospadias.

Published in:

Nature Genetics, 2006, v. 38, n. 12, p. 1369, doi. 10.1038/ng1900

By:

Fukami, Maki;
Wada, Yuka;
Miyabayashi, Kanako;
Nishino, Ichizo;
Hasegawa, Tomonobu;
Camerino, Giovanna;
Kretz, Christine;
Buj-Bello, Anna;
Laporte, Jocelyn;
Yamada, Gen;
Morohashi, Ken-ichirou;
Ogata, Tsutomu

Publication type:

Article

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Published in:

Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513

By:

Papadopoulou, Lefkothea C.;
Sue, Carolyn M.;
Davidson, Mercy M.;
Tanji, Kurenai;
Nishino, Ichizo;
Sadlock, James E.;
Krishna, Sindu;
Walker, Winsome;
Selby, Jeanette;
Glerum, D. Moira;
Coster, Rudy Van;
Lyon, Gilles;
Scalais, Emmanuel;
Lebel, Roger;
Kaplan, Paige;
Shanske, Sara;
De Vivo, Darryl C.;
Bonilla, Eduardo;
Hirano, Michio

Publication type:

Article

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 3, p. 439, doi. 10.1007/s00401-012-1073-6

By:

Ramachandran, Nivetha;
Munteanu, Iulia;
Wang, Peixiang;
Ruggieri, Alessandra;
Rilstone, Jennifer;
Israelian, Nyrie;
Naranian, Taline;
Paroutis, Paul;
Guo, Ray;
Ren, Zhi-Ping;
Nishino, Ichizo;
Chabrol, Brigitte;
Pellissier, Jean-Francois;
Minetti, Carlo;
Udd, Bjarne;
Fardeau, Michel;
Tailor, Chetankumar;
Mahuran, Don;
Kissel, John;
Kalimo, Hannu

Publication type:

Article

Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease.

Published in:

2013

By:

Furuta, Akiko;
Wakabayashi, Koichi;
Haratake, Joji;
Kikuchi, Hisae;
Kabuta, Tomohiro;
Mori, Fumiaki;
Tokonami, Fusao;
Katsumi, Yukinori;
Tanioka, Fumihiko;
Uchiyama, Yasuo;
Nishino, Ichizo;
Wada, Keiji

Publication type:

Letter

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Published in:

Acta Neuropathologica, 2011, v. 121, n. 2, p. 253, doi. 10.1007/s00401-010-0754-2

By:

Toussaint, Anne;
Cowling, Belinda Simone;
Hnia, Karim;
Mohr, Michel;
Oldfors, Anders;
Schwab, Yannick;
Yis, Uluc;
Maisonobe, Thierry;
Stojkovic, Tanya;
Wallgren-Pettersson, Carina;
Laugel, Vincent;
Echaniz-Laguna, Andoni;
Mandel, Jean-Louis;
Ichizo Nishino;
Laporte, Jocelyn

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

Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress.

Published in:

Acta Neuropathologica, 2003, v. 105, n. 6, p. 603, doi. 10.1007/s00401-003-0686-1

By:

Ikezoe, Koji;
Furuya, Hirokazu;
Ohyagi, Yasumasa;
Osoegawa, Manabu;
Nishino, Ichizo;
Nonaka, Ikuya;
Kira, Jun-ichi

Publication type:

Article

Clinical practice guidance for juvenile dermatomyositis (JDM) 2018-Update.

Published in:

Modern Rheumatology, 2020, v. 30, n. 3, p. 411, doi. 10.1080/14397595.2020.1718866

By:

Ichiro Kobayashi;
Shinji Akioka;
Norimoto Kobayashi;
Naomi Iwata;
Shunichiro Takezaki;
Haruna Nakaseko;
Satoshi Sato;
Yutaka Nishida;
Tomo Nozawa;
Yuichi Yamasaki;
Kazuko Yamazaki;
Satoru Arai;
Ichizo Nishino;
Masaaki Mori

Publication type:

Article

Association of immune‐mediated necrotizing myopathy with HLA polymorphisms.

Published in:

HLA: Immune Response Genetics, 2023, v. 101, n. 5, p. 449, doi. 10.1111/tan.14950

By:

Ohnuki, Yuko;
Suzuki, Shigeaki;
Uruha, Akinori;
Oyama, Munenori;
Suzuki, Shingo;
Kulski, Jerzy K.;
Nishino, Ichizo;
Shiina, Takashi

Publication type:

Article

Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0099-x

By:

Okazaki, Tetsuya;
Matsuura, Kaori;
Kasagi, Noriko;
Adachi, Kaori;
Kai, Masachika;
Okubo, Mariko;
Nishino, Ichizo;
Nanba, Eiji;
Maegaki, Yoshihiro

Publication type:

Article

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0052-z

By:

Shimomura, Hideki;
Lee, Tomoko;
Tanaka, Yasuhiko;
Awano, Hiroyuki;
Itoh, Kyoko;
Nishino, Ichizo;
Takeshima, Yasuhiro

Publication type:

Article

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0050-1

By:

Uchino, Shumpei;
Iida, Aritoshi;
Sato, Atsushi;
Ishikawa, Keiko;
Mimaki, Masakazu;
Nishino, Ichizo;
Goto, Yu-ichi

Publication type:

Article

Light‐chain amyloid myopathy isolated to skeletal muscles: A case report.

Published in:

Clinical Case Reports, 2020, v. 8, n. 12, p. 2869, doi. 10.1002/ccr3.3310

By:

Matsukawa, Toshihiro;
Eguchi, Katsuki;
Nishino, Ichizo;
Okada, Kohei;
Oshimi, Kazuo;
Miyagishima, Takuto

Publication type:

Article

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01084-4

By:

Ogasawara, Masashi;
Iida, Aritoshi;
Kumutpongpanich, Theerawat;
Ozaki, Ayami;
Oya, Yasushi;
Konishi, Hirofumi;
Nakamura, Akinori;
Abe, Ryuta;
Takai, Hiroshi;
Hanajima, Ritsuko;
Doi, Hiroshi;
Tanaka, Fumiaki;
Nakamura, Hisayoshi;
Nonaka, Ikuya;
Wang, Zhaoxia;
Hayashi, Shinichiro;
Noguchi, Satoru;
Nishino, Ichizo

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

TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 2, p. 1, doi. 10.1111/nan.12771

By:

Munot, Pinki;
McCrea, Nadine;
Torelli, Silvia;
Manzur, Adnan;
Sewry, Caroline;
Chambers, Darren;
Feng, Lucy;
Ala, Pierpaolo;
Zaharieva, Irina;
Ragge, Nicola;
Roper, Helen;
Marton, Tamas;
Cox, Phil;
Milev, Miroslav P.;
Liang, Wen‐Chen;
Maruyama, Shinsuke;
Nishino, Ichizo;
Sacher, Michael;
Phadke, Rahul;
Muntoni, Francesco

Publication type:

Article