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Brain & Development|July 14, 2020
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsyNoriko Togashi, Atsushi Fujita, Moriei Shibuya, et al.Pediatric Neurology|April 8, 2026
Electrographic Seizures Following Status Epilepticus With Fever in Critically Ill ChildrenTakehiko Inui, Saki Uneoka, Miki Ikeda, et al.Pediatric Neurology|July 1, 2023
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic TremorSaki Uneoka, Tomoko Kobayashi, Yurika Numata-Uematsu, et al.Brain & Development|July 4, 2021
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variantMoriei Shibuya, Saki Uneoka, Akira Onuma, et al.American Journal of Medical Genetics. Part A|December 31, 2021
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variantYu Katata, Saki Uneoka, Naoya Saijyo, et al.Brain & Development|March 8, 2026
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 reportYukimune Okubo, Noriko Togashi, Yuko Morishita, et al.Case Reports in Medicine|June 25, 2026
Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic DyskinesiaMiki Ikeda, Aritomo Kawashima, Kaori Kodama, et al.Pageof 1