Jae S. Cho
Songnam, Republic of Korea
Last Updated: 09/26/2026
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Found 9 publications
Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.
Journal: Clinical genetics
Published: September 23, 2025
Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 30, 2024
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.
Journal: Journal of movement disorders
Published: March 03, 2024
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
Journal: American journal of medical genetics. Part A
Published: January 15, 2024
Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months.
Journal: Muscle & nerve
Published: January 31, 2023
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.
Journal: Clinical and experimental pediatrics
Published: September 15, 2022
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Journal: Brain & development
Published: November 15, 2020
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Journal: Journal of child neurology
Published: November 01, 2016
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Journal: Epilepsy research
Published: July 04, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026