Yukimune Okubo
Sendai, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 38 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
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.
Journal: Clinical genetics
Published: July 01, 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
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
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
Journal: The Tohoku journal of experimental medicine
Published: November 15, 2023
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Journal: Brain : a journal of neurology
Published: May 18, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Journal: Brain & development
Published: November 15, 2022
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Journal: Pediatric neurology
Published: September 01, 2022
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature.
Journal: The Tohoku journal of experimental medicine
Published: July 06, 2022
Last Updated: 09/26/2026