Katsuya Nakamura
8PUBLICATIONS
3CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|Apr 03, 2026
A novel PSEN2 missense variant in a Japanese woman with hereditary Alzheimer's disease.Kazuki Kasuga, Chinami Yuzawa, Katsuya Nakamura
|Nov 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.Shinji Masuko, Mitsuto Sato, Katsuya Nakamura
|Oct 07, 2024
Clinical genetic approaches to the management of patients with myotonic dystrophy type 1 and their families.Katsuya Nakamura
|Nov 06, 2023
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo
|Dec 19, 2022
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1.Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura
|Oct 31, 2017
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa
Pageof 2
