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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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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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Clinical Experiences of Uncommon Motor Neuron Disease: Hirayama Disease

Lee KH, Choi DS, Lee YS, Kang DH

Hirayama disease, juvenile muscular atrophy of the distal upper limb, is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. This cervical...
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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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Motor neurons derived from ALS-related mouse iPS cells recapitulate pathological features of ALS

Park JH, Park HS, Hong S, Kang S

Amyotrophic lateral sclerosis (ALS) is a late-onset progressive neurodegenerative disease characterized by the loss of motor neurons in the spinal cord and brain. Mutations in Cu/Zn superoxide dismutase 1 (SOD1)...
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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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Monomelic Amyotrophy (Hirayama Disease) With Upper Motor Neuron Signs: A Case Report

Yoo SD, Kim HS, Yun DH, Kim DH, Chon J, Lee SA, Lee SY, Han YJ

Monomelic amyotrophy (MMA), also known as Hirayama disease, is a sporadic juvenile muscular atrophy in the distal upper extremities. This disorder rarely involves proximal upper extremities and presents minimal sensory...
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Responses to Enteric Motor Neurons in the Gastric Fundus of Mice With Reduced Intramuscular Interstitial Cells of Cajal

Sanders KM, Salter AK, Hennig GW, Koh SD, Perrino BA, Ward SM, Baker SA

  • KMID: 2381169
  • J Neurogastroenterol Motil.
  • 2014 Apr;20(2):171-184.
BACKGROUND/AIMS: Interstitial cells of Cajal (ICC) play important functions in motor activity of the gastrointestinal tract. The role of ICC as pacemakers is well established, however their participation in neurotransmission...
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Electrophysiologic Investigation During Facial Motor Neuron Suppression in Patients With Hemifacial Spasm: Possible Pathophysiology of Hemifacial Spasm: A Pilot Study

Choi SI, Kim MW, Park DY, Huh R, Jang DH

OBJECTIVE: To evaluate the pathophysiological mechanism of hemifacial spasm (HFS), we performed electrophysiological examinations, such as supraorbital nerve stimulation with orbicularis oris muscle recording and lateral spread tests, after suppressing...
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Selective Cytotoxic Mechanism of Homocysteine to Motor Neuronal Cells Expressing the Mutant Cu,Zn-superoxide Dismutase

Sung JJ, Kim HJ, Kim SM, Min JH, Hong YH, Park KS, Kim M, Lee SH, Ho WK, Lee KW

  • KMID: 1957679
  • J Korean Neurol Assoc.
  • 2006 Feb;24(1):66-75.
BACKGROUND: Mutations in Cu, Zn-superoxide dismutase (SOD1) cause about 20% of familial amyotrophic lateral sclerosis (FALS) cases. The mechanism of late-onset disease manifestation despite the innate mutation has no clear...
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Role of Glycogen Synthase Kinase-3 in Motor Neuronal Cell Death Mechanism of in Vitro Familial ALS Model (G94A, A4V mutant motoneuron)

Koh SH, Kim J, Kim MH, Yu HJ, Kim M, Kim HJ, Lee KW, Kim SH

  • KMID: 2343148
  • J Korean Neurol Assoc.
  • 2005 Apr;23(2):249-256.
BACKGROUND: G93A or A4V mutations in the human Cu/Zn- superoxide dismutase gene (hSOD1) cause familial amyotrophic lateral sclerosis (fALS). However, it has not yet clearly understood how these bring about...
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The Effect of Anti-oxidants on Apoptosis Relating Protein Expressions in Mutant Cu/Zn-superoxide Dismutase Motor Neuron Cells

Shin DH, Kim M, Oh CS, Kim J, Lee KW, Cha CI, Lee WJ, Lee YS

  • KMID: 2338399
  • J Korean Geriatr Soc.
  • 2005 Dec;9(4):306-313.
BACKGROUNDS: Free radical theory showed that aging might be correlating with the accumulation of oxidative damage into biomolecules of animals. Since the process was also observed in some neurodegenerative disease,...
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Localization of Motor Neuronal Cell Bodies Innervating the Digastric Muscle of the Rat Using Cholera Toxin B Subunit (CTB)

Kim JH, Han EH

  • KMID: 2224508
  • Korean J Anat.
  • 2004 Jun;37(3):283-292.
We used cholera toxin B subunit (CTB) as a neural tracer to localize motor neuronal cell bodies innervating the digastric muscle. After CTB injection into the left anterior belly, CTB-labelled...
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A Case of Lower Motor Neuron Syndrome Which May be Paraneoplastic

Jeon SB, Lim YM, Kim KK

  • KMID: 1956956
  • J Korean Neurol Assoc.
  • 2004 Jun;22(3):265-268.
We present a 55-year-old man who has a six-month history of progressive weakness of all limbs. Findings from neurologic examination were notable for a diffuse muscular weakness and atrophy in...
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A Case of Exon 7 and 8 Deletion of Survival Motor Neuron Gene in Spinal Muscular Atrophy

Kim YD, Kim JC, Hwang CK, Lee KS

  • KMID: 2329305
  • J Korean Child Neurol Soc.
  • 2003 May;11(1):163-167.
Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is...
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Neuroprotective Effect of Estrogen on Motor Neuron Cells Expressing Wild Type or Mutant Cu/Zn Superoxide Dismutase

Kim HJ, Park SH, Kim MH, Kim HJ, Lee KW

  • KMID: 2343020
  • J Korean Neurol Assoc.
  • 2002 Sep;20(5):525-529.
BACKGROUND: Recently, the mechanism involved in nitric oxide (NO)-mediated motor neuron death is under extensive investigation. The role of Cu/Zn superoxide dismutase (SOD) mutation, which is found in about 2%...
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Effect of Familial Amyotrophic Lateral Sclerosis-associated Cu, Zn-superox-ide Dismutase Mutation on Neural Differentiation in Motor Neuronal Cells

Park KS, Kim HJ, Kim NH, Kim MH, Park SH, Park WY, Kim YS, Lee BL, Cha CI, Chae YS, Lee KW

  • KMID: 2342972
  • J Korean Neurol Assoc.
  • 2002 May;20(3):273-278.
BACKGROUND: Mutations in the human Cu, Zn-superoxide dismutase(SOD1) gene have been identified in some cases of familial amyotrophic lateral sclerosis(ALS). The aim of this study is to delineate the effect...
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Poly (ADP-Ribose) Polymerase immunoreactivity in Motor Neurons and Astrocytes in the Spinal Cord of Sporadic Amyotrophic Lateral Sclerosis Patients

Kim SH, Henkel JS, Kim JH, Kim MH, Engelhardt JI, Siklos L, Kong G, Appel SH

  • KMID: 2137971
  • J Korean Neurol Assoc.
  • 2002 Nov;20(6):668-681.
BACKGROUND: The evidence for increased oxidative stress and DNA damage in amyotrophic lateral sclerosis (ALS) prompted studies to determine if the expression of poly (ADP-ribose) polymerase (PARP) is increased in...
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