Katsuya Nakamura
Matsumoto, 3908621, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Bromhexine screening using molecularly imprinted polymers for electrochemiluminescence detection and molecular recognition.
Journal: Analytical and bioanalytical chemistry
Published: February 26, 2026
Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication.
Journal: Neurogenetics
Published: December 10, 2025
A 57-year-old male case of high temperature requirement A serine peptidase 1 (HTRA1)-related cerebral small vessel disease with "Chocolate Chip Sign" on susceptibility-weighted imaging
Journal: Rinsho shinkeigaku = Clinical neurology
Published: December 10, 2025
A novel PSEN2 missense variant in a Japanese woman with hereditary Alzheimer's disease.
Journal: Journal of Alzheimer's disease reports
Published: November 06, 2025
Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan
Journal: Rinsho shinkeigaku = Clinical neurology
Published: January 26, 2025
Clinical genetic approaches to the management of patients with myotonic dystrophy type 1 and their families.
Journal: Developmental medicine and child neurology
Published: September 10, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.
Journal: Molecular genetics & genomic medicine
Published: July 05, 2024
HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface.
Journal: Journal of the neurological sciences
Published: May 26, 2024
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.
Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Published: May 25, 2024
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Journal: Frontiers in neuroscience
Published: May 24, 2024
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.
Journal: Internal medicine (Tokyo, Japan)
Published: August 09, 2023
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
Journal: Molecular genetics and metabolism reports
Published: May 24, 2023
Last Updated: 09/26/2026