Kazunari Monma - Concepedia

Author

Kazunari Monma

Also Known As

K. Monma, Kazunari Monma, Koume Monma

Publications

168

Citations

H-Index

Concepts

All Affiliations

Kazunari Monma is an author at National Center of Neurology and Psychiatry specializing in pathogenesis, pathology, and medicine.

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	33
2	Molecular Biology	1	1	54
3	Pathology	1	1	33
4	Genetics	1	1	54
5	Pathogenesis	1	1	33

Kazunari Monma

Publications

168

Citations

H-Index

Page 1

	Year	Citations
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy) Anna Cho, Yukiko Hayashi, Kazunari Monma, Journal of Neurology Neurosurgery & Psychiatry	2013	66
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, Journal of the Neurological Sciences GeneticsMendelian DisorderMolecular BiologyGne Gene Result	2012	54
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, Neuromuscular Disorders Good Diagnostic MarkerPathogenesisDisease Specific PathologyPathologyAdult-onset Pompe Disease	2011	33
Novel pathogenic <i>VPS13A</i> gene mutations in Japanese patients with chorea-acanthocytosis Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, Neurology Genetics	2019	15

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