neuromuscular disorder |
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
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Journal of genetic medicine |
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
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Annals of child neurolog |
Clinical Characteristics of Epilepsy and Its Risk Factors in Neurofibromatosis Type 1: A Single-Center Study
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Clin Exp Pediatr |
Advanced neuroimaging techniques for evaluating pediatric epilepsy
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J Neurol Neurosurg Psychiatry |
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
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Ann Indian Acad Neurol |
Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective Study
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Brain Dev |
Central nervous system vasculitis from Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorder in children: A case report
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Neuropediatrics |
Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review
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Journal of clinical neurology (Seoul, Korea). |
Long-term outcomes of hemispheric disconnection in pediatric patients with intractable epilepsy.
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Pediatric transplantation. |
Risk factors for neurological complications and their correlation with survival following pediatric liver transplantation.
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Pediatric neurology. |
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma.
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Journal of clinical neurology (Seoul, Korea). |
Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome
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Seizure. |
Structural abnormalities in benign childhood epilepsy with centrotemporal spikes (BCECTS).
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Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. |
An interictal EEG can predict the outcome of vagus nerve stimulation therapy for children with intractable epilepsy
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Brain Dev. |
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.
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J Korean Med Sci. |
Clinical Characteristics of Transplant-associated Encephalopathy in Children.
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Korean journal of pediatrics. |
Intravenous levetiracetam versus phenobarbital in children with status epilepticus or acute repetitive seizures.
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Neuroimage Clin. |
Large-scale structural alteration of brain in epileptic children with SCN1A mutation.
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Seizure. |
Diagnostic usefulness of arterial spin labeling in MR negative children with new onset seizures.
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대한의학유전학회지 |
A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
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