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Validation of the Individualized Neuromuscular Quality of Life Questionnaire in Korean Patients With Genetic Neuromuscular Diseases

Han HJ, Lee SA, Choi YC, Rose MR, Park HJ

Background and Purpose The Individualized Neuromuscular Quality of Life questionnaire (INQoL) is a widely used measure of the quality of life in patients with neuromuscular diseases. The purpose of this...
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Incidence, Disability, and Mortality in Patients With Guillain-Barré Syndrome in Korea: A Nationwide Population-Based Study

Yi SW, Lee JH, Hong JM, Choi YC, Park HJ

Background and Purpose This study aimed to identify the epidemiological features of Guillain-Barré syndrome (GBS) in the Korean population. Methods Patients with GBS were defined as those who were hospitalized with...
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A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease

Hong JM, Jeon H, Choi YC, Cho H, Hong YB, Park HJ

Background and Purpose Pathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated...
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The Antioxidant Effect of Small Extracellular Vesicles Derived from Aloe vera Peels for Wound Healing

Kim MK, Choi YC, Cho SH, Choi JS, Cho YW

Background: Extracellular vesicles (EVs) derived from plants have emerged as potential candidates for cosmetic and therapeutic applications. In this study, we isolated EVs from Aloe vera peels (A-EVs) and investigated the...
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Evaluating an In-House Cell-Based Assay for Detecting Antibodies Against Muscle-Specific Tyrosine Kinase in Myasthenia Gravis

Kim MJ, Kim SW, Kim M, Choi YC, Kim SM, Shin HY

Background and Purpose Detecting antibodies against muscle-specific tyrosine kinase (MuSK Abs) is essential for diagnosing myasthenia gravis (MG). We applied an in-house cellbased assay (CBA) to detect MuSK Abs. Methods A...
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Clinical Scales for the Evaluation of Myopathy Patients

Park HJ, Choi YC

With the rapid increase in the number of clinical trials in myopathy over the past decade, there is an increasing need for clinical scales to reflect patient’s clinical status. This...
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Multicenter Targeted Population Screening of Late Onset Pompe Disease in Unspecified Myopathy Patients in Korea

Lee JH, Shin JH, Kim DS, Kim KK, Kim BJ, Seok JM, Sung JJ, Nam TS, Park YE, Park JS, Kim SZ, Choi YC

Background: Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy...
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Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis

Cheong EN, Paik W, Choi YC, Lim YM, Kim H, Shim WH, Park HJ

Purpose: AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features...
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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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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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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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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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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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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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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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