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Change in Cationic Amino Acid Transport System and Effect of Lysine Pretreatment on Inflammatory State in Amyotrophic Lateral Sclerosis Cell Model

Latif S, Kang YS

Amyotrophic lateral sclerosis (ALS) is a lethal neurological disorder characterized by the deterioration of motor neurons. The aim of this study was to investigate alteration of cationic amino acid transporter...
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Clinical Scales Used in Motor Neuron Disease

Oh Si, Park JS, Sung JJ, Kim SH

Motor neuron diseases (MND) are heterogeneous spectra of disorders that that primarily affect the motor neurons (MN) resulting in motor nerve and muscle degeneration. The pathophysiological mechanisms of MN cell...
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Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers

Pan J, Zhang C, Teng Y, Zeng S, Chen S, Liang D, Li Z, Wu L

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (SMN1) gene. A nearby...
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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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Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis

Lee S, Park J, Oh KW, Kim SH

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less...
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Duodenoduodenal Intussusception due to a Migrated Percutaneous Radiologic Gastrostomy Tube: A Case Report

Hong JW, Kim SH, Yoon JA, Shin MJ, Shin YB

Patients with dysphagia often have difficulty in supplying adequate nutrition orally, and thus they often use gastrostomy for nutrition support. If the nutrition affects the deterioration of the disease, as...
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Motor dominant polyradiculopathy with Primary Sjögren's syndrome mimicking motor neuron disease

Ahn SW, Yoon BN

Sjögren's syndrome (SS)-associated polyradiculopathy is rarely reported. A 51-year-old woman presented with a history of gradual weakness in all four extremities for several months. Based on electrophysiological studies, spinal magnetic...
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Unilateral Hypoglossal Neuropathy in Multifocal Acquired Demyelinating Sensory and Motor Neuropathy: Differential Diagnosis of Motor Neuron Disease

Yoo SK, Kim MO, Kim CH, Kim YS, Kim SK, Kang H, Choi NC, Kwon OY, Lim BH, Park KH

Multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) is a peripheral neuropathy characterized by multifocal weakness and associated sensory impairment. MADSAM is associated with multifocal persistent conduction block and other...
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Applicability of the digital instrument to improve the reproducibility of motor unit number index

Ahn SW

BACKGROUND: The motor unit number index (MUNIX) and motor unit size index (MUSIX) refer to the electrophysiological measurement of the motor units using the surface electromyographic interference pattern (SIP) recorded...
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Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis

Hwang H, Lee JH, Choi YC

The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient...
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Percutaneous Endoscopic Gastrostomy Tube Insertion in Neurodegenerative Disease: A Retrospective Study and Literature Review

Sarkar P, Cole A, Scolding N, Rice CM

BACKGROUND/AIMS: With the notable exceptions of dementia, stroke, and motor neuron disease, relatively little is known about the safety and utility of percutaneous endoscopic gastrostomy (PEG) tube insertion in patients...
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Sarcopenia: Neurological Point of View

Kwon YN, Yoon SS

Sarcopenia is an age-related geriatric syndrome which is characterized by the gradual loss of muscle mass, muscle strength, and muscle quality. There are a lot of neurologic insults on sarcopenia...
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Motor Neuron Disease Presenting With Acute Respiratory Failure: A Case Study

Oh H, Kang SW, Choi WA, Lee JW, Suh M, Kim EY

Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons,...
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Flail arm syndrome with several issues related to the diagnostic process

Kim JY, Park YK, Yoon B, Lee KO, Kim YD, Na SJ

Flail arm syndrome (FAS), known as one of the atypical amyotrophic lateral sclerosis (ALS) variants, has a similar clinical course and pathologic findings as ALS. Therefore it is difficult to...
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Protective effect of rosemary on acrylamide motor neurotoxicity in spinal cord of rat offspring: postnatal follow-up study

Al-Gholam , Nooh HZ, El-Mehi AE, El-Barbary AEM, Fokar AZ

The direct interactive effects of rosemary and acrylamide on the development of motor neurons in the spinal cord remains unknown. Our goal is to confirm the protective effects of rosemary...
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Frontotemporal Dementia with Motor Neuron Disease in a Patient with Antiphospholipid Syndrome: A Case Report

Jeong YC, Park JS, Kim SH, Choi H

BACKGROUND: Frontotemporal dementia (FTD) with motor neuron disease (MND) is a syndrome of progressive changes in behavior, language, muscle weakness and atrophy due to loss of function of neurons in...
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Astrocytes and Microglia as Non-cell Autonomous Players in the Pathogenesis of ALS

Lee J, Hyeon SJ, Im H, Ryu H, Kim Y, Ryu H

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder that leads to a progressive muscle wasting and paralysis. The pathological phenotypes are featured by severe motor neuron death and glial...
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An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Kim EJ, Oh EH, Kim KT, Jung Y, Lee JH, Lee JH, Lee YM, Kim SJ, Shin JH, Shin MJ, Lee MJ, Ahn JW, Sung S, Choi KU, Jung DS, Seeley WW, Huh GY

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into...
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Cerebral Infarction Presenting with Unilateral Isolated Foot Drop

Kim KW, Park JS, Koh EJ, Lee JM

Weakness of the dorsiflexor muscles of the ankle or toe, referred to as foot drop, is a relatively common presentation. In most cases, foot drop is caused by a lower...
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Comparison between Flail Arm Syndrome and Upper Limb Onset Amyotrophic Lateral Sclerosis: Clinical Features and Electromyographic Findings

Yoon BN, Choi SH, Rha JH, Kang SY, Lee KW, Sung JJ

Flail arm syndrome (FAS), an atypical presentation of amyotrophic lateral sclerosis (ALS), is characterized by progressive, predominantly proximal, weakness of upper limbs, without involvement of the lower limb, bulbar, or...
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