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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

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

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...
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Acute Leukemia Relapse Presenting as Recurrent Involvement of the Optic Nerve

Lee SY, Yoon JH, Chung SA

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

Kim MJ, Kim NY, Jung YA, Lee S, Jung GS, Kim JG, Lee IK, Lee S, Choi YK, Park KG

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

Choi WJ, Joo K, Park KH

No abstract available.
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Retinal Ganglion Cell Layer Thicknesses and Visual Functions in Patients with Bilateral Temporal Optic Atrophy

Kim BG, Park JY, Oh WH, Choi J

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

Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC

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

Anagnostou E, Karavasilis E, Potiri I, Constantinides V, Efstathopoulos E, Kapaki E, Potagas C

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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Changes in Helicobacter pylori Immunoglobulin G Levels and Gastric Mucosal Atrophy after Successful Eradication of Helicobacter pylori

Kim JH, Lee JS, Kwon YH, Jeon SW, Nam SY, Jin S

BACKGROUND/AIMS: Limited information is available about the relationship between Helicobacter pylori (H. pylori) immunoglobulin (Ig) G and serum pepsinogen (pepsinogen [PG], a marker of gastric mucosal atrophy) concentrations after H....
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Complete mouth rehabilitation with zirconia fixed partial dentures supported by natural teeth and implants: A case report

An JH, Jung JH, Cho HW

When a maxillary implant-supported fixed prosthesis is planned for anterior partially edentulous region, the degree of atrophy of the residual ridge, prospective location of the implants and inclination of the...
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Clinical Milestones Preceding the Diagnosis of Multiple System Atrophy and Progressive Supranuclear Palsy: A Retrospective Cohort Study

Wiblin L, Durcan R, Galna B, Lee M, Burn D

OBJECTIVE: Multiple System Atrophy (MSA) and progressive supranuclear palsy (PSP) are rapidly progressive forms of degenerative Parkinsonism. The difficulties of diagnosing MSA and PSP in their early stages may lead...
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Increased Signal in the Superior Cerebellar Peduncle of Patients with Progressive Supranuclear Palsy

Kataoka H, Nishimori , Kiriyama T, Nanaura H, Izumi T, Eura N, Iwasa N, Sugie K

OBJECTIVE: The provisional diagnosis of progressive supranuclear palsy (PSP) depends on a combination of typical clinical features and specific MRI findings, such as atrophy of the tegmentum in the midbrain....
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Modeling α-Synuclein Propagation with Preformed Fibril Injections

Chung HK, Ho HA, Pérez-Acuña D, Lee SJ

The aggregation of α-synuclein (α-syn) has been implicated in the pathogenesis of many neurodegenerative disorders, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). Postmortem...
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Anterior Cervical Discectomy and Fusion for Hirayama Disease: a Case Report and Literature Review

Kuo YH, Kuo CH, Huang WC, Wu JC

Hirayama disease, a juvenile muscular atrophy of the distal upper extremity, is a rare form of cervical flexion myelopathy characterized by insidiously progressive weakness of the hands and forearm muscles...
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Cervical Spondylotic Amyotrophy: Case Series and Review of the Literature

Takahashi , Hanakita J, Minami M, Tomita Y, Sasagasako T, Kanematsu

OBJECTIVE: Cervical spondylotic amyotrophy (CSA) is a relatively rare entity caused by cervical degenerative spinal diseases and characterized by motor weakness accompanied by remarkable muscle atrophy in the upper extremities...
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Outcome Measures and Variables Affecting Prognosis of Cervical Spondylotic Myelopathy: WFNS Spine Committee Recommendations

Zileli M, Maheshwari S, Kale SS, Garg K, Menon SK, Parthiban

This study is conducted to review the literature systematically to determine most reliable outcome measures, important clinical and radiological variables affecting the prognosis in cervical spondylotic myelopathy patients. A literature...
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The Cortical Neuroanatomy Related to Specific Neuropsychological Deficits in Alzheimer's Continuum

Kang SH, Park YH, Lee D, Kim JP, Chin J, Ahn Y, Park SB, Kim HJ, Jang H, Jung YH, Kim J, Lee J, Kim JS, Cheon BK, Hahn A, Lee H, Na DL, Kim YJ, Seo SW

BACKGROUND AND PURPOSE: In Alzheimer's continuum (a comprehensive of preclinical Alzheimer's disease [AD], mild cognitive impairment [MCI] due to AD, and AD dementia), cognitive dysfunctions are often related to cortical...
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Effects of 3,3′,4,4′,5-pentachlorobiphenyl on human Kv1.3 and Kv1.5 channels

Kim JH, Hwang S, Park SI, Jo SH

Among the environmental chemicals that may be able to disrupt the endocrine systems of animals and humans are polychlorinated biphenyls (PCBs), a chemical class of considerable concern. PCB consists of...
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Quantitative T2 Mapping of Articular Cartilage of the Glenohumeral Joint at 3.0T in Rotator Cuff Disease Patients: the Evaluation of Degenerative Change of Cartilage

Lee KR, Ko SY, Choi GM

PURPOSE: The aim of this study is to evaluate the T2 value of the articular cartilage of the glenohumeral joint in rotator cuff disease displayed on 3.0T MRI and to...
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Spatiotemporal Gait Parameter Comparison for Parkinson's Disease, Multiple System Atrophy, and Other Parkinsonism Diseases

Bae CH, Jeong HW, Yun JY, Lee JE, Han SJ

The aim of this study was to compare and quantify the spatiotemporal and gait parameters obtained by foot pressure analysis during the gait in a group of Parkinson's disease (PD)...
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