Naomichi Matsumoto

129PUBLICATIONS
603CO-AUTHORS
Neurology and neuromuscular diseasesAerospace materialsAutoimmunityGene expression (incl. microarray and other genome-wide approaches)Neurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (129)

|Aug 18, 2026
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

|Aug 11, 2026
Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

|Aug 07, 2026
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

|Jul 16, 2026
Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

|Jul 01, 2026
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations.

|Jun 18, 2026
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Pageof 22

Frequent Collaborators

45 joint publications

Satoko Miyatake

42 joint publications

Yuri Uchiyama

36 joint publications

Takeshi Mizuguchi

36 joint publications

Naomi Tsuchida