Hirofumi Komaki
Tokyo, Japan
Last Updated: 09/26/2026
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Found 159 publications
Spinal hypomyelination in a child with classic hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): expanding the neuroradiological spectrum, a case report.
Journal: Brain & development
Published: March 22, 2026
National survey of patients with neuromuscular disease and COVID-19 in Japan.
Journal: Brain & development
Published: February 08, 2026
Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study.
Journal: European journal of neurology
Published: February 04, 2026
Validation of the Japanese Version of the Muscular Dystrophy Spine Questionnaire in Patients with Flaccid Neuromuscular Scoliosis in Japan.
Journal: Spine surgery and related research
Published: September 12, 2025
Two-Year Outcomes Following Delandistrogene Moxeparvovec Treatment in Ambulatory Patients with Duchenne Muscular Dystrophy: Phase 3 EMBARK Trial.
Journal: Neurology and therapy
Published: September 10, 2025
Reply to Letter to the Editor regarding the article "SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications".
Journal: Epilepsia open
Published: August 25, 2025
Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial.
Journal: Journal of comparative effectiveness research
Published: August 22, 2025
A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.
Journal: Clinical genetics
Published: August 20, 2025
Reply to the "letter to the editor: 'Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study'".
Journal: Brain & development
Published: August 15, 2025
Development of a cost-effectiveness analysis model for Duchenne muscular dystrophy utilizing the national registry in Japan.
Journal: Scientific reports
Published: August 15, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.
Journal: Brain : a journal of neurology
Published: June 26, 2025
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies.
Journal: Annals of clinical and translational neurology
Published: June 10, 2025
Last Updated: 09/26/2026