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A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

Ahn JY, Kim SY, Lim BC, Kim KJ, Chae JH

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic...
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A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review

Kim MJ, Oh YJ, Hong YH, Park SH, Oh JS, Kim MJ, Chae JH, Shin K

Limb-Girdle Muscular Dystrophy 2B (LGMD2B) presents with proximal and/or distal muscle weakness and markedly high creatine kinase level. It is caused by the loss of dysferlin due to mutations in...
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Effects of Non-pharmacological Interventions on Cancer Patients with Sleep Disorder: A Meta-analysis

Chae JH, Kim YS, Han MY

Purpose: The objective of this study was to analyze the effects of non-pharmacological interventions on cancer patients with sleep disorder. Methods: A total of 4,246 studies published between 2000 and...
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Strategies for Reducing Mental Disorder Treatment Gap in Korea

Kim J, Chae JH

The treatment gap can be defined as the difference between the proportion of people who have the disease and the proportion of those who receive proper treatment. The mental disorder...
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Short Course and Early Switch of Vigabatrin for Infantile spasms

Ryu HW, Kim H, Lim BC, Hwang H, Chae JH, Choi JE, Kim KJ

Purpose: Vigabatrin has proven efficacy in the treatment of infantile spasms, but it carries the risk of irreversible visual field constriction. The incidence of vigabatrin-induced visual field constriction seems to...
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Attachment Style, Complicated Grief and Post-Traumatic Growth in Traumatic Loss: The Role of Intrusive and Deliberate Rumination

Huh HJ, Kim KH, Lee HK, Chae JH

Objective The present study examines the effects of attachment styles on the grief response and the indirect effect of rumination in parents who lost a child in the Sewol Ferry...
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Clinical Spectrum of Myelin Oligodendrocyte Glycoprotein-Immunoglobulin G-Associated Disease in Korean Children

Yoo IH, Kim W, Shim Y, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim Y, Hyun JW, Kim SH, Choi K, Kim HJ, Chae JH

Background and Purpose: The myelin oligodendrocyte glycoprotein (MOG) antibody is detected at a high rate in childhood acquired demyelinating syndrome (ADS). This study aimed to determine the diagnostic value of...
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Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy

Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, Kim SY

The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is...
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A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

Han JY, Kim SY, Cheon JE, Choi M, Lee JS, Chae JH

No abstract available.
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High Behavioral Inhibition System/Behavioral Activation System Sensitivity, Childhood Emotional Neglect and Their Interaction as Possible Related Factors for Adult Attachment Style in Depression

Huh HJ, Jeong BR, Hwang JH, Chae JH

Objective Individual differences in attachment insecurity are important in a broad range of mental health problems. However, few empirical studies have examined the clinical factors that contribute to individual differences...
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Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

Cho A, Kim SY, Lee JS, Lim BC, Kim H, Hwang H, Chae JH

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and...
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A Mediating Effect of Embitterment on the Effects of Anxiety & Depressive Symptoms on Suicide in Patients with Depressive and Anxiety Disorders

Ryu Ng, Oh Jh, Shim HH, Chae JH

Objective : Previous studies have shown that depression, anxiety and embitterment are highly related to suicide. This study aims to investigate the mediating effect of embitterment between depression, anxiety and...
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Deep Phenotyping in 1p36 Deletion Syndrome

Shim Y, Go YJ, Kim SY, Kim H, Hwang H, Choi J, Lim BC, Kim KJ, Chae JH

Purpose: Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to...
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The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center

Ko YJ, Shim YK, Kim WJ, Kim SY, Kim H, Hwang H, Chae JH, Choi JE, Kim KJ, Lim BC

Purpose: Rituximab is increasingly used as a second-line treatment of neuroinflammatory disorders to improve clinical outcomes in cases refractory to conventional immunotherapy and to reduce relapses. This study aimed to...
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Erratum to: Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children

Yoo IH, Kim W, Cho J, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ

Unfortunately, the authors confirmed that some of the data was missing from categories ‘Acute gastroenteritis’ and ‘Febrile seizure’ of Table 2 in the original version.
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Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC

BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet...
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Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation

Yoo D, Kim HJ, Chae JH, Paek SH, Jeon B

No abstract available.
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The Efficacy of Miniaturized Repetitive Transcranial Magnetic Stimulation in Patients with Depression

Lee S, Jang KI, Yoon S, Chae JH

OBJECTIVE: The present study aimed to evaluate the efficacy of repetitive transcranial magnetic stimulation (rTMS) at a high frequency using a miniaturized device compared to standard rTMS and sham rTMS...
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Reliability and Validity of the Korean Version of Clinician-Administered Posttraumatic Stress Disorder Scale for DSM-5

Kim WH, Jung YE, Roh D, Kim D, Kang SH, Chae JH, Park JE

BACKGROUND: For diagnosis of post-traumatic stress disorder (PTSD), the Clinician-Administered PTSD Scale (CAPS) is one of the most widely used structured diagnostic interviews. METHODS: In this study, we aimed to develop...
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Posttraumatic Symptoms and Change of Complicated Grief among Bereaved Families of the Sewol Ferry Disaster: One Year Follow-up Study

Han H, Yun JA, Huh HJ, Huh S, Hwang J, Joo JY, Yoon YA, Shin EG, Choi WJ, Lee S, Chae JH

BACKGROUND: The objective of this study was to determine whether severity and severity change of coexisting psychiatric symptoms might affect change of complicated grief (CG) regarding the Sewol ferry disaster. METHODS:...
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