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Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

Lee JH, Park HJ, Seong MW, Park SS, Choi YC

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the...
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LGMD2E with a novel nonsense variantin SGCB gene: a case of LGMD2E with anovel variant

La YK, Oh EK, Lyou HJ, Hong JM, Choi YC

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing....
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Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)

Lee H, La Y, Na HK, Kim H, Shin S, Choi YC

No abstract available.
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First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

Han HJ, Park HJ, Yun U, Choi YC

No abstract available.
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Pattern analysis of lower limb magnetic resonance images in Korean patients with distal myopathy

Park HJ, Shin HY, Kim SM, Park KD, Choi YC

BACKGROUND: Magnetic resonance (MR) images are useful for diagnosing myopathy. The purpose of this study was to determine the usefulness of lower-limb MR images in Korean patients with distal myopathy. METHODS:...
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Progression of GNE Myopathy Based on the Patient-Reported Outcome

Park YE, Kim DS, Choi YC, Shin JH

BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom...
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Iodine status and characteristics of Korean adolescents and their parents based on urinary iodine concentration: a nationwide cross-sectional study

Choi YC, Cheong JI, Chueh HW, Yoo JH

PURPOSE: Iodine is a major component of thyroid hormones. Both deficiency and excess of iodine are major risk factors for thyroid disease, making it important to accurately assess iodine level...
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A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

Namgung DW, Hong JM, Lee JH, Park HJ, Choi YC

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent...
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Clinical and Radiographic Characteristics of Neuro-Behçet's Disease in South Korea

Kim SW, Kim TG, Oh J, Kim DY, Choi YC, Kim SM, Shin HY, Bang D

BACKGROUND AND PURPOSE: Neurological involvement in Behçet's disease [neuro-Behçet's disease (NBD)] is uncommon, but it is worth investigating since it can cause substantial disability. However, difficulties exist in understanding the...
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Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication

Kang SW, Hong JM, Namgung DW, Choi YC

No abstract available.
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Analysis of pediatric adverse drug reactions reported to regional pharmacovigilance center of a single university hospital

Kim DW, Choi YC, Lee YS, Nam YH, Jung JA

PURPOSE: Adverse drug reactions (ADRs) are a recurring problem among pediatric patients, and the incidence is increasing. However, there have been only a few studies on the clinical presentation of...
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Subacute Combined Degeneration in a Patient with Long-Term Oral Contraceptive Use

Kim D, Choi BK, Hong JM, Kim K, Lee JH, Choi YC

No abstract available.
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Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

Kim K, Park HJ, Lee JH, Hong J, Ahn SW, Choi YC

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee...
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Changes in the Hippocampal Volume and Shape in Early-Onset Mild Cognitive Impairment

Moon SW, Lee B, Choi YC

OBJECTIVE: The aim of this study was to examine the change in the hippocampal volume and shape in early-onset mild cognitive impairment (EO-MCI) associated with the APOE ε4 carrier state. METHODS:...
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Family History as a Risk Factor for Iron Deficiency Anemia among Korean Adolescents: Data from the Fifth Korea National Health and Nutrition Examination Survey (KNHANES)

Chueh HW, Choi YC, Shin JH, Yoo JH

BACKGROUND: Iron deficiency anemia (IDA) is a disease prevalent throughout the world. However, there is limited information regarding whether familial factors are associated with the risk of adolescent IDA. METHODS: This...
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Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia

Park HJ, Lee MJ, Lee JE, Park KD, Choi YC

No abstract available.
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FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, Park KD, Lee JH, Choi YC

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and...
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Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

Choi K, Seok JM, Kim BJ, Choi YC, Shin HY, Sunwoo IN, Kim DS, Sung JJ, Lee GY, Jeon ES, Kim NH, Min JH, Oh J

BACKGROUND AND PURPOSE: This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. METHODS:...
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The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations

Kim K, Choi YC

No abstract available.
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Henoch-Schönlein Purpura Presenting as Mononeuritis Multiplex

Park M, Lee Y, Choi YC

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