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Human Molecular Genetics|August 13, 2025
Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1Aono Fukumoto, Tomoki Yamanaka, Motoaki Yanaizu, et al.
Clinical Genetics|April 20, 2017
WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort studyJ-H Yuan, A Hashiguchi, A Yoshimura, et al.
Molecular Genetics & Genomic Medicine|February 28, 2020
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1SMari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, et al.
Journal of Neuromuscular Diseases|May 1, 2023
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in JapanNaoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, et al.
Orphanet Journal of Rare Diseases|August 11, 2023
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in JapanMadoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, et al.
Molecular Biology Reports|May 10, 2013
Transcriptome meta-analysis of peripheral lymphomononuclear cells indicates that gestational diabetes is closer to type 1 diabetes than to type 2 diabetes mellitusC V A Collares, A F Evangelista, D J Xavier, et al.
Neurology. Clinical Practice|March 28, 2024
Therapeutic Responses to Efgartigimod for Generalized Myasthenia Gravis in JapanShigeaki Suzuki, Akiyuki Uzawa, Yuriko Nagane, et al.
Nature Structural & Molecular Biology|June 21, 2011
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophyFrédérique Rau, Fernande Freyermuth, Charlotte Fugier, et al.
Internal Medicine (Tokyo, Japan)|June 4, 2025
Corticosteroid-induced Cushingoid Appearance in Myasthenia GravisAkiyuki Uzawa, Shigeaki Suzuki, Satoshi Kuwabara, et al.
Cytokine|December 13, 2006
Beneficial effect of interferon-beta treatment in patients with multiple sclerosis is associated with transient increase in serum IL-6 level in response to interferon-beta injectionY Nakatsuji, M Nakano, M Moriya, et al.
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