Kazuhiro Haginoya
Sendai, Japan
Last Updated: 09/26/2026
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Found 116 publications
Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case Report.
Journal: Case reports in neurology
Published: January 07, 2026
Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.
Journal: Case reports in medicine
Published: November 25, 2025
Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report.
Journal: Brain & development
Published: October 21, 2025
Progressive Cerebellar Atrophy Associated with a KDM5C Variant.
Journal: JMA journal
Published: September 10, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.
Journal: Journal of human genetics
Published: September 06, 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
p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease.
Journal: Endocrine journal
Published: April 02, 2025
Electrographic Seizures Following Status Epilepticus With Fever in Critically Ill Children.
Journal: Pediatric neurology
Published: January 20, 2025
Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.
Journal: The Tohoku journal of experimental medicine
Published: December 18, 2024
Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.
Journal: Orphanet journal of rare diseases
Published: March 19, 2024
Long-term clinical observation of patients with heterozygous KIF1A variants.
Journal: American journal of medical genetics. Part A
Published: March 10, 2024
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Journal: The Tohoku journal of experimental medicine
Published: January 24, 2024
Last Updated: 09/26/2026