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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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Vesicular Glutamate Transporter 1 (VGLUT1)- and VGLUT2-containing Terminals on the Rat Jaw-closing γ-Motoneurons

Park SK, Hong JH, Jung JK, Ko HG, Bae YC

Currently, compared to jaw-closing (JC) α-motoneurons, the information on the distribution and morphology of glutamatergic synapses on the jaw-closing (JC) γ-motoneurons, which may help elucidate the mechanism of isometric contraction...
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Uncommon coexistence of myasthenia gravis and amyotrophic lateral sclerosis

Cho EB, Yang TW, Jeong H, Yoon C, Jung S, Park KJ

Myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) are distinct disorders. ALS affects motor neurons that control muscle movement, while MG controls communication between neurons and muscles, which occurs at...
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Control of Motility in the Internal Anal Sphincter

Keef KD, Cobine CA

  • KMID: 2449091
  • J Neurogastroenterol Motil.
  • 2019 Apr;25(2):189-204.
  • doi: 10.5056/jnm18172
The internal anal sphincter (IAS) plays an important role in the maintenance of fecal continence since it generates tone and is responsible for > 70% of resting anal pressure. During...
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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...
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Impaired Nucleoporins Are Present in Sporadic Amyotrophic Lateral Sclerosis Motor Neurons that Exhibit Mislocalization of the 43-kDa TAR DNA-Binding Protein

Aizawa H, Yamashita , Kato H, Kimura T, Kwak S

BACKGROUND AND PURPOSE: Disruption of nucleoporins has been reported in the motor neurons of patients with sporadic amyotrophic lateral sclerosis (sALS). However, the precise changes in the morphology of nucleoporins...
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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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Intraoperative Neurophysiological Monitoring : A Review of Techniques Used for Brain Tumor Surgery in Children

Kim K, Cho C, Bang MS, Shin HI, Phi JH, Kim SK

Intraoperative monitoring (IOM) utilizes electrophysiological techniques as a surrogate test and evaluation of nervous function while a patient is under general anesthesia. They are increasingly used for procedures, both surgical...
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Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

Lee S, Kim EJ, Cho SI, Park H, Seo SH, Seong MW, Park SS, Jung SE, Lee SC, Park KW, Kim HY

BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be...
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Characteristics of Cricopharyngeal Dysphagia After Ischemic Stroke

Yang H, Yi Y, Han Y, Kim HJ

OBJECTIVE: To evaluate the characteristics of cricopharyngeal dysfunction (CPD), the frequency, and correlation with a brain lesion in patients with first-ever ischemic stroke, and to provide basic data for developing...
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A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution

Heo K, Lim SM, Nahm M, Kim YE, Oh KW, Park HT, Ki CS, Kim SH, Lee S

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is frequently linked to microtubule abnormalities and mitochondrial trafficking defects. Whole exome sequencing (WES) of patient-parent trios has proven to...
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Abnormal Oculomotor Functions in Amyotrophic Lateral Sclerosis

Kang BH, Kim JI, Lim YM, Kim KK

BACKGROUND AND PURPOSE: Although traditionally regarded as spared, a range of oculomotor dysfunction has been recognized in amyotrophic lateral sclerosis (ALS) patients. ALS is nowadays considered as a neurodegenerative disorder...
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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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Noninvasive Respiratory Management of Patients With Neuromuscular Disease

Bach JR

This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623...
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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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A proposal of injection points of botulinum toxin into temporal region for chronic migraine

Kim YG, Bae JH, Kim ST

Botulinum toxin (BoNT) injections have been used not only in the field of cosmetic surgery such as forehead and eye wrinkle treatment but also in the treatment of chronic migraine,...
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KCHO-1, a novel herbal anti-inflammatory compound, attenuates oxidative stress in an animal model of amyotrophic lateral sclerosis

Kook MG, Choi SW, Seo Y, Kim DW, Song BK, Son I, Kim S, Kang KS

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective death of motor neurons in the central nervous system. The main cause of the disease remains elusive, but several...
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Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

Ahn EJ, Yum MS, Kim EH, Yoo HW, Lee BH, Kim GH, Ko TS

BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of...
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