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40

21

Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months
이윤정
Annals of Child Neurology, 202504

22

Clinical Usefulness of Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging in Children With Focal Epilepsy
이윤정
JOURNAL OF CLINICAL NEUROLOGY, 202209

23

Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
이윤정
Journal of Genetic Medicine, 202112

24

Clinical characteristics of epilepsy and its risk factors in neurofibromatosis type 1: A single-center study
이윤정
Annals of Child Neurology, 202101

25

Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller
이윤정
Journal of Genetic Medicine, 202012

26

Advanced neuroimaging techniques for evaluating pediatric epilepsy
이윤정
Clinical and Experimental Pediatrics, 202003

27

Real-Life Effectiveness and Tolerability of Perampanel in Pediatric Patients Aged 4 Years or Older with Epilepsy: A Korean National Multicenter Study
이윤정
JOURNAL OF CLINICAL NEUROLOGY, 202001

28

Efficacy and tolerability of adjunctive perampanel treatment in children under 12 years of age with refractory epilepsy
Yun Y., Kim D., Lee Y.-J., Kwon S., Hwang S.-K.
Korean Journal of Pediatrics, 201907

29

Acute Necrotizing Encephalopathy in Children: a Long Way to Go
이윤정
JOURNAL OF KOREAN MEDICAL SCIENCE, 201905

30

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
이윤정
대한의학유전학회지, 201812