Masayuki Sasaki
Medical Quantum Science Course
Fukuoka, Japan
Fukuoka, Japan
Last Updated: 09/26/2026
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Found 266 publications
Congenital Dysplasia of the Central Nervous System
Journal: Brain and nerve = Shinkei kenkyu no shinpo
Published: May 12, 2025
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 02, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Journal: NPJ genomic medicine
Published: March 11, 2025
Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.
Journal: Brain & development
Published: December 29, 2024
Clinical and genetic spectrum of patients with IRF2BPL syndrome.
Journal: Journal of human genetics
Published: August 08, 2024
Surgical outcome and contributing presurgical evaluations in children with magnetic resonance imaging-negative epilepsy and periodic seizure cycles.
Journal: Epilepsy research
Published: July 01, 2024
Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.
Journal: Cell reports. Medicine
Published: March 20, 2024
Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey.
Journal: Brain & development
Published: February 22, 2024
Brain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: February 26, 2023
Myelin abnormalities in merosin-deficient congenital muscular dystrophy.
Journal: Muscle & nerve
Published: February 25, 2023
Last Updated: 09/26/2026