Harumasa Nakamura

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.

Long-term effect of repeated lidocaine injections into the external oblique for upper camptocormia in Parkinson's disease.

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.

Nationwide patient registry for GNE myopathy in Japan.

[Remudy].

[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN].

[Drug development for overcoming dementia in Japan].

Trends in steroid therapy for Duchenne muscular dystrophy in Japan.

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

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

[Medical Needs Survey on Neurological Disorders].

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.

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy.

National registry of patients with Fukuyama congenital muscular dystrophy in Japan.

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania.

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.