author-photo

Kazunari Monma

5

Papers

99

Citations

Citation Trend

Filter By

Papers (5) Sort By

Journal Conference Others

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis

2019 Neurology Genetics
Show All
- Source
- Cite
- Save
Citations (5)
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

2014 Journal of Neurology, Neurosurgery, and Psychiatry
Show All
- Source
- Cite
- Save
Citations (37)
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

2012 Journal of the Neurological Sciences
Show All
- Source
- Cite
- Save
Citations (34)
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

2012 Neuromuscular Disorders
Show All
- Source
- Cite
- Save
Citations (23)
G.P.11.08 Cytoplasmic body with acid phosphatase activity – Hallmark of adult-onset Pompe disease on muscle pathology

2008 Neuromuscular Disorders
Show All
- Source
- Cite
- Save
Citations (0)