Harumasa Nakamura

Clinical Research Support Office, National Center of Neurology and Psychiatry

Affiliated withNational Center of Neurology and Psychiatry

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2020

Other Publications

Article	Year
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 ... Journal of the neurological sciences\| PubMed ID: 22507750	2012
Long-term effect of repeated lidocaine injections into the external oblique for upper camptocormia in Parkinson's disease. Parkinsonism & related disorders\| PubMed ID: 23043967	2013
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet journal of rare diseases\| PubMed ID: 23601510	2013
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. Journal of human genetics\| PubMed ID: 24430576	2014
Nationwide patient registry for GNE myopathy in Japan. Orphanet journal of rare diseases\| PubMed ID: 25303967	2014
[Remudy]. Brain and nerve = Shinkei kenkyu no shinpo\| PubMed ID: 25407075	2014
[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN]. Rinshō shinkeigaku = Clinical neurology\| PubMed ID: 25519964	2014
[Drug development for overcoming dementia in Japan]. Rinsho shinkeigaku = Clinical neurology\| PubMed ID: 25672739	2014
Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle & nerve\| PubMed ID: 26910583	2016
Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. Journal of clinical neuromuscular disease\| PubMed ID: 27224434	2016
Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. BMC health services research\| PubMed ID: 27401940	2016
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\| PubMed ID: 28807665	2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet journal of rare diseases\| PubMed ID: 28859693	2017
[Medical Needs Survey on Neurological Disorders]. Brain and nerve = Shinkei kenkyu no shinpo\| PubMed ID: 29519967	2018
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clin... Journal of neuromuscular diseases\| PubMed ID: 29614690	2018
Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Science translational medicine\| PubMed ID: 29669851	2018
National registry of patients with Fukuyama congenital muscular dystrophy in Japan. Neuromuscular disorders : NMD\| PubMed ID: 30220444	2018
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. Human genetics\| PubMed ID: 31919629	2020
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania. Brain & development\| PubMed ID: 31980267	2020
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan. Orphanet journal of rare diseases\| PubMed ID: 32917266	2020