- Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population
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Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS
- KMID: 2470330
- Ann Lab Med.
- 2020 Jul;40(4):326-330.
- doi: 10.3343/alm.2020.40.4.326
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency... -
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- Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy
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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... -
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- Acute Leukemia Relapse Presenting as Recurrent Involvement of the Optic Nerve
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Lee SY, Yoon JH, Chung SA
- KMID: 2471776
- J Korean Ophthalmol Soc.
- 2020 Mar;61(3):319-324.
- doi: 10.3341/jkos.2020.61.3.319
PURPOSE: To report two cases with recurrent involvement of the optic nerve as the initial sign of acute leukemic relapse. CASE SUMMARY: An 8-year-old male with acute lymphoblastic leukemia on the... -
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- Evogliptin, a Dipeptidyl Peptidase-4 Inhibitor, Attenuates Renal Fibrosis Caused by Unilateral Ureteral Obstruction in Mice
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Kim MJ, Kim NY, Jung YA, Lee S, Jung GS, Kim JG, Lee IK, Lee S, Choi YK, Park KG
- KMID: 2470966
- Diabetes Metab J.
- 2020 Feb;44(1):186-192.
- doi: 10.4093/dmj.2018.0271
Renal fibrosis is considered to be the final common outcome of chronic kidney disease. Dipeptidyl peptidase-4 (DPP-4) inhibitors have demonstrated protective effects against diabetic kidney disease. However, the anti-fibrotic effect... -
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- Pigmented Paravenous Retinochoroidal Atrophy
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Choi WJ, Joo K, Park KH
- KMID: 2469292
- Korean J Ophthalmol.
- 2020 Feb;34(1):90-91.
- doi: 10.3341/kjo.2019.0078
No abstract available. -
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- Retinal Ganglion Cell Layer Thicknesses and Visual Functions in Patients with Bilateral Temporal Optic Atrophy
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Kim BG, Park JY, Oh WH, Choi J
- KMID: 2468481
- J Korean Ophthalmol Soc.
- 2020 Jan;61(1):92-100.
- doi: 10.3341/jkos.2020.61.1.92
PURPOSE: To investigate correlations between macular retinal ganglion cell (RGC) layer thickness and best-corrected visual acuity (BCVA) and visual field parameters in patients with bilateral temporal optic atrophy. METHODS: Thirty eyes... -
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- Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population
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Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC
- KMID: 2467787
- J Clin Neurol.
- 2020 Jan;16(1):75-82.
- doi: 10.3988/jcn.2020.16.1.75
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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- A Cortical Substrate for Square-Wave Jerks in Progressive Supranuclear Palsy
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Anagnostou E, Karavasilis E, Potiri I, Constantinides V, Efstathopoulos E, Kapaki E, Potagas C
- KMID: 2467782
- J Clin Neurol.
- 2020 Jan;16(1):37-45.
- doi: 10.3988/jcn.2020.16.1.37
BACKGROUND AND PURPOSE: Square-wave jerks (SWJs) are the most common saccadic intrusion in progressive supranuclear palsy (PSP), but their genesis is uncertain. We aimed to determine the characteristics of SWJs... -
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- Association between Cognitive function, Behavioral and Psychological Symptoms of Dementia and Temporal Lobe Atrophy in Patients with Alzheimer's Disease and Mild Cognitive Impairment
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Jeong JY, Lee KJ, Kim H
- KMID: 2470704
- Korean J Psychosom Med.
- 2019 Dec;27(2):155-163.
- doi: 10.22722/KJPM.2019.27.2.155
OBJECTIVES: The aim of this study was to compare severity, neurocognitive functions, and behavioral and psychological symptoms of dementia (BPSD) according to the degree of temporal lobe atrophy (MTA) in... -
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- Limb-Girdle Muscular Dystrophy
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Kim NH, Yoon HS
- KMID: 2470476
- Korean J Neuromuscul Disord.
- 2019 Dec;11(2):35-48.
- doi: 10.0000/kjnd.2019.11.2.35
The limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically determined disorders characterized by progressive weakness and atrophy predominantly impacting the shoulder and pelvic girdles. Their classification has... -
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- Tardy Ulnar Nerve Palsy by Neurofibroma
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Lee SC, Koh SH, Kim C
- KMID: 2470355
- Clin Pain.
- 2019 Dec;18(2):97-101.
- doi: 10.35827/cp.2019.18.2.97
Tardy ulnar nerve palsy is ulnar neuropathy at or around elbow and commonly evaluated in the electromyography laboratory. However, ulnar neuropathy at the elbow due to neurofibroma is rare. Neurofibromas... -
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- Diagnosis and Treatment of Gastric Mucosa-associated Lymphoid Tissue Lymphoma
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Gong EJ, Choi KD
- KMID: 2469904
- Korean J Gastroenterol.
- 2019 Dec;74(6):304-313.
- doi: 10.4166/kjg.2019.74.6.304
The stomach is the most common primary site of an extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) type, which is characterized by an indolent clinical course. A diagnosis... -
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- Progressive Hemifacial Atrophy After Implant Placement in Patients Taking Immunosuppressive Agents: Case Report
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Kim DH, Kim HJ, Jeon KJ, Huh JK
- KMID: 2469475
- Implantology.
- 2019 Dec;23(4):214-219.
- doi: 10.32542/implantology.2019018
Progressive hemifacial atrophy (PHA) is a rare disorder characterized by acquired unilateral facial atrophy. This disease mainly affects the skin and the craniofacial tissue below forehead. It also involves dermatomes... -
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- Effectiveness of Helicobacter pylori Eradication before Endoscopic Resection
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Ahn JY
- KMID: 2469311
- Korean J Helicobacter Up Gastrointest Res.
- 2019 Dec;19(4):215-219.
- doi: 10.7704/kjhugr.2019.0016
Helicobacter pylori (H. pylori) infection can cause gastric dysplasia and cancer via chronic inflammatory changes in the gastric mucosa that may lead to gastric atrophy and intestinal metaplasia. Many epidemiologic... -
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- Analysis of Greater Tuberosity from the Center of the Humeral Head: Progression to Femoralization
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Lee JS, Song HS, Kim H, Yoon HM, Han SB
- KMID: 2468834
- Clin Should Elbow.
- 2019 Dec;22(4):216-219.
- doi: 10.5397/cise.2019.22.4.216
BACKGROUND: Progression of the tear size and erosion of the greater tuberosity (femoralization) in the supraspinatus tear makes it difficult to repair or increases the risk of a re-tear. This... -
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- Effects of Electrical Muscle Stimulation for Preventing Deltoid Muscle Atrophy after Rotator Cuff Repair: Preliminary Results of a Prospective, Randomized, Single-blind Trial
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Lee GJ, Cho H, Ahn BH, Jeong HS
- KMID: 2468831
- Clin Should Elbow.
- 2019 Dec;22(4):195-202.
- doi: 10.5397/cise.2019.22.4.195
BACKGROUND: This study investigates the effects of neuromuscular electrical stimulation (NMES) in preventing deltoid atrophy during the first 12 weeks after arthroscopic rotator cuff repair. METHODS: Eighteen patients undergoing arthroscopic repair... -
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- A Comparison Study of Cilostazol and Aspirin on Changes in Volume of Cerebral Small Vessel Disease White Matter Changes: Protocol of a Multicenter, Randomized Controlled Trial
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Han HJ, Kim BC, Youn YC, Jeong JH, Kim JH, Lee JH, Park KH, Park KW, Kim EJ, Oh MS, Shim YS, Park HY, Yoon B, Yoon SJ, Cho SJ, Park KC, Na DL, Park SA, Lee JM, Choi SH
- KMID: 2466757
- Dement Neurocogn Disord.
- 2019 Dec;18(4):138-148.
- doi: 10.12779/dnd.2019.18.4.138
BACKGROUND AND PURPOSE: Cerebral small vessel disease (CSVD) is the most common cause of vascular dementia and a major contributor to mixed dementia. CSVD is characterized by progressive cerebral white... -
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- Different Cortical Thinning Patterns Depending on Their Prognosis in Individuals with Subjective Cognitive Decline
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Lim EY, Shim YS, Hong YJ, Ryu SY, Cho AH, Yang DW
- KMID: 2466754
- Dement Neurocogn Disord.
- 2019 Dec;18(4):113-121.
- doi: 10.12779/dnd.2019.18.4.113
BACKGROUND AND PURPOSE: Subjective cognitive decline (SCD) may be the first stage corresponding to subtle cognitive changes in patients with Alzheimer's disease (AD) spectrum disorders. We evaluated the differences in... -
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- Gemigliptin Attenuates Renal Fibrosis Through Down-Regulation of the NLRP3 Inflammasome
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Seo JB, Choi YK, Woo HI, Jung YA, Lee S, Lee S, Park M, Lee IK, Jung GS, Park KG
- KMID: 2466504
- Diabetes Metab J.
- 2019 Dec;43(6):830-839.
- doi: 10.4093/dmj.2018.0181
BACKGROUND: The hypoglycemic drugs dipeptidyl peptidase-4 (DPP-4) inhibitors have proven protective effects on diabetic kidney disease, including renal fibrosis. Although NOD-like receptor protein 3 (NLRP3) inflammasome activation is known to... -
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- Nonarteritic Anterior Ischemic Optic Neuropathy with an Atypical Visual Field Defect
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Song DH, Lee JE
- KMID: 2466199
- J Korean Ophthalmol Soc.
- 2019 Dec;60(12):1374-1379.
- doi: 10.3341/jkos.2019.60.12.1374
PURPOSE: To report a case of nonarteritic anterior ischemic optic neuropathy (NA-AION) with an atypical visual field defect after intraocular surgery. CASE SUMMARY: A 61-year-old male presented with a visual field... -
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