- Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy
-
Li Q
- KMID: 2471912
- Yonsei Med J.
- 2020 Apr;61(4):273-283.
- doi: 10.3349/ymj.2020.61.4.273
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
-
- Close
- SHARE
-
- Close
- Primary Localized Amyloidosis in Extraocular Muscles
-
Han SH, Kim YD, Woo KI
- KMID: 2466186
- J Korean Ophthalmol Soc.
- 2019 Dec;60(12):1301-1306.
- doi: 10.3341/jkos.2019.60.12.1301
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
-
- Close
- SHARE
-
- Close
- Neuromyelitis Optica Spectrum Disorder Preceded by Myotonic Myopathy
-
Lee H, Kim D, Kim W, Choi K, Park SH, Oh J
- KMID: 2464149
- J Korean Neurol Assoc.
- 2019 Nov;37(4):403-407.
- doi: 10.17340/jkna.2019.4.14
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
-
- Close
- SHARE
-
- 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
- KMID: 2461173
- J Korean Med Sci.
- 2019 Nov;34(42):e268.
- doi: 10.3346/jkms.2019.34.e268
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
-
- Close
- SHARE
-
- Close
- Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca²⺠signaling of differentiated C2C12 myotubes
-
Phuong TT, An J, Park SH, Kim A, Choi HB, Kang TM
- KMID: 2461047
- Korean J Physiol Pharmacol.
- 2019 Nov;23(6):539-547.
- doi: 10.4196/kjpp.2019.23.6.539
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
-
- Close
- SHARE
-
- Close
- “Hairiness†is a Facsimile of Reorganized Cytoskeletons: A Cytopathic Effect of Coxiella burnetii
-
Lee WY
- KMID: 2459141
- Yonsei Med J.
- 2019 Oct;60(10):890-897.
- doi: 10.3349/ymj.2019.60.10.890
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
-
- Close
- SHARE
-
- 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
- KMID: 2454728
- Ann Clin Neurophysiol.
- 2019 Jul;21(2):79-86.
- doi: 10.14253/acn.2019.21.2.79
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
-
- Close
- SHARE
-
- Close
- Progression of GNE Myopathy Based on the Patient-Reported Outcome
-
Park YE, Kim DS, Choi YC, Shin JH
- KMID: 2451109
- J Clin Neurol.
- 2019 Jul;15(3):275-284.
- doi: 10.3988/jcn.2019.15.3.275
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
-
- Close
- SHARE
-
- 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
- KMID: 2452862
- Korean J Clin Pharm.
- 2019 Jun;29(2):133-137.
- doi: 10.24304/kjcp.2019.29.2.133
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
-
- Close
- SHARE
-
- Close
- Steroid Induced Myopathy in Dermatomyositis Patients
-
Yun SM, Kim KA, Kim Y, Hwang JH
- KMID: 2452734
- Clin Pain.
- 2019 Jun;18(1):48-51.
- doi: 10.0000/cp.2019.18.1.48
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
-
- Close
- SHARE
-
- Close
- Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1
-
Cho MJ
- KMID: 2451775
- Kosin Med J.
- 2019 Jun;34(1):47-51.
- doi: 10.7180/kmj.2019.34.1.47
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
-
- Close
- SHARE
-
- 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
- KMID: 2454845
- J Korean Neurol Assoc.
- 2019 May;37(2):174-177.
- doi: 10.17340/jkna.2019.2.10
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
-
- Close
- SHARE
-
- 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
- KMID: 2441911
- J Korean Med Sci.
- 2019 Mar;34(9):e54.
- doi: 10.3346/jkms.2019.34.e54
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
-
- Close
- SHARE
-
- Close
- Pulmonary and Physical Rehabilitation in Critically Ill Patients
-
Jang MH, Shin MJ, Shin YB
- KMID: 2449375
- Acute Crit Care.
- 2019 Feb;34(1):1-13.
- doi: 10.4266/acc.2019.00444
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
-
- Close
- SHARE
-
- 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
- KMID: 2434182
- Ann Clin Neurophysiol.
- 2019 Jan;21(1):7-15.
- doi: 10.14253/acn.2019.21.1.7
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
-
- Close
- SHARE
-
- 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
- KMID: 2448904
- Ann Rehabil Med.
- 2018 Dec;42(6):833-837.
- doi: 10.5535/arm.2018.42.6.833
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
-
- Close
- SHARE
-
- Close
- Perioperative Anesthetic Management of a Patient with Dermatomyositis
-
Koo BS
- KMID: 2437881
- Soonchunhyang Med Sci.
- 2018 Dec;24(2):232-235.
- doi: 10.0000/sms.2018.24.2.232
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
-
- Close
- SHARE
-
- Close
- Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
-
Gill I, Kim JH, Moon JH, Kim YJ, Kim NS
- KMID: 2435947
- J Genet Med.
- 2018 Dec;15(2):87-91.
- doi: 10.5734/JGM.2018.15.2.87
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
-
- Close
- SHARE
-
- Close
- Integrated diagnostic approach of pediatric neuromuscular disorders
-
Lee HN, Lee YM
- KMID: 2435943
- J Genet Med.
- 2018 Dec;15(2):55-63.
- doi: 10.5734/JGM.2018.15.2.55
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
-
- Close
- SHARE
-
- Close
- Ophthalmoplegia in Mitochondrial Disease
-
Lee SJ, Na JH, Han J, Lee YM
- KMID: 2426333
- Yonsei Med J.
- 2018 Dec;59(10):1190-1196.
- doi: 10.3349/ymj.2018.59.10.1190
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
-
- Close
- SHARE
-
- Close
