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2018 Akihiko Ishiyama, Aritoshi Iida, Shinichiro Hayashi, Hirofumi Komaki, Masayuki Sasaki, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

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Madoka Mori-Yoshimura, Satomi Mitsuhashi, Harumasa Nakamura, Hirofumi Komaki, Kanako Goto, Naohiro Yonemoto, Fumi Takeuchi, Yukiko K. Hayashi, Miho Murata, Yuji Takahashi, Ichizo Nishino, Shin’ichi Takeda, En Kimura

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

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2017 Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

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Anna Cho, May Christine, V. Malicdan, Miho Miyakawa, Ikuya Nonaka, Ichizo Nishino, Satoru Noguchi

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy

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2016 Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika

, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita

, Shigeru Uemura, Ichizo Nishino

, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

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Misa Matsui, Kimiko Inoue, Saburo Sakoda, Tsuyoshi Matsumura, Takashi Hamazaki, Motomichi Kosuga, Torayuki Okuyama, Yohta Shimada, Toya Ohashi, Ichizo Nishino

Screening for late-onset Pompe disease in undiagnosed myopathies

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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 and 5 other authors

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

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Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe and 18 other authors

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

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Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders

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Mitsuru Furuta, Hisae Sumi-Akamaru, Masanori P. Takahashi, Yukiko K. Hayashi, Ichizo Nishino

, Hideki Mochizuki

An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles

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Kazuko Takayama, Satomi Mitsuhashi, Je-Young Shin, Rieko Tanaka, Tatsuya Fujii, Rie Tsuburaya, Souichi Mukaida, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation

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Yuko Ohnuki, Shigeaki Suzuki, Takashi Shiina, Akinori Uruha, Yurika Watanabe, Shingo Suzuki, Shunichiro Izumi, Jin Nakahara, Kohei Hamanaka, Kazuko Takayama, Norihiro Suzuki, Ichizo Nishino

HLA-DRB1 alleles in immune-mediated necrotizing myopathy: Table 1

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Akiyoshi Uezumi, Masashi Nakatani, Madoka Ikemoto-Uezumi, Naoki Yamamoto, Mitsuhiro Morita, Asami Yamaguchi, Harumoto Yamada, Takehiro Kasai, Satoru Masuda, Asako Narita, Yuko Miyagoe-Suzuki, Shin’ichi Takeda, So-Ichiro Fukada, Ichizo Nishino

, Kunihiro Tsuchida

Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle

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Kohei Hamanaka, Kanako Goto, Mami Arai, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K. Hayashi, Satomi Mitsuhashi, Ichizo Nishino

Corrigendum to “Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations”

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Akinori Uruha, Shigeaki Suzuki, Norihiro Suzuki, Ichizo Nishino

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

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Kensuke Ikeda, Madoka Mori-Yoshimura, Toshiyuki Yamamoto, Masahiro Sonoo, Shigeaki Suzuki, Yoshiyuki Kondo, Harumasa Nakamura, Kana Mitsuhashi, Meiko Hashimoto Maeda, Jun Shimizu, Yukiko K. Hayashi, Ichizo Nishino

, Yasushi Oya, Miho Murata

Chronic Myopathy Associated With Anti–Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy

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Kazuma Sugie, Hiroyuki Yoshizawa, Kenji Onoue, Yoko Nakanishi, Nobuyuki Eura, Megumu Ogawa, Tomoya Nakano, Yasuhiro Sakaguchi, Yukiko K. Hayashi, Toshifumi Kishimoto, Midori Shima, Yoshihiko Saito, Ichizo Nishino

, Satoshi Ueno

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

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Yurika Watanabe, Akinori Uruha, Shigeaki Suzuki, Jin Nakahara, Kohei Hamanaka, Kazuko Takayama, Norihiro Suzuki, Ichizo Nishino

Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy

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Takeshi Inoue, Nobuyuki Murakami, Tadayuki Ayabe, Yuji Oto, Ichizo Nishino

, Yu-Ichi Goto, Yasutoshi Koga, Ryoichi Sakuta

Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient

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Marlinde L van den Boogaard, Richard J L. F. Lemmers, Judit Balog, Mariëlle Wohlgemuth, Mari Auranen, Satomi Mitsuhashi, Patrick J van der Vliet, Kirsten R Straasheijm, Rob F P. van den Akker, Marjolein Kriek, Marlies E Y. Laurense-Bik, Vered Raz, Monique M van Ostaijen-Ten Dam, Kerstin B M. Hansson, Elly L van der Kooi and 8 other authors

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

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