Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

386 results
Display

Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy

Li Q

The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Primary Localized Amyloidosis in Extraocular Muscles

Han SH, Kim YD, Woo KI

PURPOSE: Primary localized amyloidosis is a disease characterized by the deposition of abnormal protein fibrils in a specific tissue without systemic involvement. We report a rare case of primary amyloidosis...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Neuromyelitis Optica Spectrum Disorder Preceded by Myotonic Myopathy

Lee H, Kim D, Kim W, Choi K, Park SH, Oh J

Neuromyelitis optica spectrum disorder (NMOSD) is generally known as selective involvement of central nervous system. However, in recent years, some evidences have been found that NMOSD invades other peripheral organs....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pediatric Home Mechanical Ventilation in Korea: the Present Situation and Future Strategy

Park M, Jang H, Sol IS, Kim SY, Kim YS, Kim YH, Sohn MH, Kim KW

BACKGROUND: The number of children using home mechanical ventilation (HMV) has increased markedly in Europe and North America, but little is known about the situation in Korea. We described the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca²⁺ signaling of differentiated C2C12 myotubes

Phuong TT, An J, Park SH, Kim A, Choi HB, Kang TM

Anoctamin 5 (ANO5)/TMEM16E belongs to a member of the ANO/TMEM16 family member of anion channels. However, it is a matter of debate whether ANO5 functions as a genuine plasma membrane...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
“Hairiness” is a Facsimile of Reorganized Cytoskeletons: A Cytopathic Effect of Coxiella burnetii

Lee WY

In 1993, I reported that Coxiella burnetii transforms human B cells into hairy cells (cbHCs), the first hairy cell reported outside of hairy cell leukemia (HCL). Over last few decades,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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:...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Visual Field Defect after Taking Atorvastatin/Ezetimibe, a Case Study

Kim J, Lee K, Kim J, Lee JM, Kim NY, Lee MS, Ji E

Atorvastatin is one of the most widely prescribed medications for dyslipidemia treatment. In Korea, post combined therapy with ezetimibe, a 73-year-old woman was reported by a community pharmacy to have...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Steroid Induced Myopathy in Dermatomyositis Patients

Yun SM, Kim KA, Kim Y, Hwang JH

Symmetrical proximal weakness and characteristic dermatologic manifestations are important in the diagnosis of dermatomyositis. We report a case of atypical presentation of dermatomyositis due to previous steroid use and also...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1

Cho MJ

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Kim YA, Jin HY, Kim YM

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pulmonary and Physical Rehabilitation in Critically Ill Patients

Jang MH, Shin MJ, Shin YB

Some patients admitted to the intensive care unit (ICU) because of an acute illness, complicated surgery, or multiple traumas develop muscle weakness affecting the limbs and respiratory muscles during acute...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Basic concepts of needle electromyography

Kim JE, Seok JM, Ahn SW, Yoon BN, Lim YM, Kim KK, Kwon KH, Park KD, Suh BC, and on behalf of the Korean Society of Clinical Neurophysiology Education Committee

Clinical evaluations, nerve conduction studies, and electromyography play major complementary roles in electrophysiologic diagnoses. Electromyography can be used to assess pathologic changes and localize lesions occurring in locations ranging from...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study

Jung JH, Oh HJ, Lee JW, Suh MR, Park J, Choi WA, Kang SW

OBJECTIVE: To investigate and demonstrate persistent increase of peak cough flow after mechanical in-exsufflator application, in patients with neuromuscular diseases and pneumonia. METHODS: A mechanical in-exsufflator was applied with patients in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Perioperative Anesthetic Management of a Patient with Dermatomyositis

Koo BS

Dermatomyositis is a relatively rare myopathy which is characterized by muscle weakness and chronic inflammatory changes in muscle and skin. Dermatomyositis typically presents with subacute, progressive proximal muscle weakness, a...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Gill I, Kim JH, Moon JH, Kim YJ, Kim NS

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Integrated diagnostic approach of pediatric neuromuscular disorders

Lee HN, Lee YM

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Ophthalmoplegia in Mitochondrial Disease

Lee SJ, Na JH, Han J, Lee YM

PURPOSE: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATERIALS AND METHODS: Among 372 patients with mitochondrial disease who visited our hospital between January 2006...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2023 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr