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Clinical Research Support Office,
Translational Medical Center,
Clinical Research Support Office, Translational Medical Center
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Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
Journal of the neurological sciences Jul, 2012 | Pubmed ID: 22507750
Long-term effect of repeated lidocaine injections into the external oblique for upper camptocormia in Parkinson's disease.
Parkinsonism & related disorders Mar, 2013 | Pubmed ID: 23043967
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
Orphanet journal of rare diseases , 2013 | Pubmed ID: 23601510
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
Journal of human genetics Mar, 2014 | Pubmed ID: 24430576
Nationwide patient registry for GNE myopathy in Japan.
Orphanet journal of rare diseases , 2014 | Pubmed ID: 25303967
[Remudy].
Brain and nerve = Shinkei kenkyu no shinpo Nov, 2014 | Pubmed ID: 25407075
[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN].
Rinshō shinkeigaku = Clinical neurology , 2014 | Pubmed ID: 25519964
[Drug development for overcoming dementia in Japan].
Rinsho shinkeigaku = Clinical neurology , 2014 | Pubmed ID: 25672739
Trends in steroid therapy for Duchenne muscular dystrophy in Japan.
Muscle & nerve Feb, 2016 | Pubmed ID: 26910583
Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy.
Journal of clinical neuromuscular disease Jun, 2016 | Pubmed ID: 27224434
Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.
BMC health services research 07, 2016 | Pubmed ID: 27401940
A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.
Neuromuscular disorders : NMD Oct, 2017 | Pubmed ID: 28807665
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Orphanet journal of rare diseases 08, 2017 | Pubmed ID: 28859693
[Medical Needs Survey on Neurological Disorders].
Brain and nerve = Shinkei kenkyu no shinpo Mar, 2018 | Pubmed ID: 29519967
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.
Journal of neuromuscular diseases , 2018 | Pubmed ID: 29614690
Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy.
Science translational medicine 04, 2018 | Pubmed ID: 29669851
National registry of patients with Fukuyama congenital muscular dystrophy in Japan.
Neuromuscular disorders : NMD 10, 2018 | Pubmed ID: 30220444
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
Human genetics Feb, 2020 | Pubmed ID: 31919629
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania.
Brain & development Mar, 2020 | Pubmed ID: 31980267
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.
Orphanet journal of rare diseases Sep, 2020 | Pubmed ID: 32917266
National Center of Neurology and Psychiatry
Joel Z. Nordin*,1,
Yoshitaka Mizobe*,1,
Harumasa Nakamura2,
Hirofumi Komaki3,
Shin'ichi Takeda1,
Yoshitsugu Aoki1
1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry,
2Clinical Research Support Office, Translational Medical Center, National Center of Neurology and Psychiatry,
3Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry
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