Kazunari Monma

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Anna Cho, Yukiko Hayashi, Kazunari Monma et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 66 citations

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

Madoka Mori‐Yoshimura, Kazunari Monma, Naoki Suzuki et al. · Journal of the Neurological Sciences · 2012 · 54 citations

Genetics, Mendelian Disorder, Molecular Biology +1

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

R. Tsuburaya, Kazunari Monma, Yasushi Oya et al. · Neuromuscular Disorders · 2011 · 33 citations

Good Diagnostic Marker, Pathogenesis, Disease Specific Pathology +3

Novel pathogenic <i>VPS13A</i> gene mutations in Japanese patients with chorea-acanthocytosis

Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata et al. · Neurology Genetics · 2019 · 15 citations · Full text