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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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A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2

Park JM, Nishio H, Shin JH, Park JS

No abstract available.
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Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1

Cho MJ

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in...
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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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Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

Cho SY, Kim S, Chung SK

PURPOSE: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient. CASE SUMMARY: A 6-year-old female presented with bilateral ground...
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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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Local anesthesia of the temporomandibular joint to reduce pain during mouth opening for dental treatment in a patient with spinal muscular atrophy

Chi SI, Kim HJ, Seo KS, Lee JH, Chang J

Spinal muscular atrophy (SMA) is an autosomal recessive, severe neuromuscular disorder in which degeneration of alpha motor neurons in the spine progressively weakens and ultimately paralyzes the proximal muscles. It...
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A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report

Kim HS, Lee SC, Cho SK, Park YB, Lee SH, Moon JH, Park YG

  • KMID: 2324437
  • J Korean Acad Rehabil Med.
  • 2007 Feb;31(1):113-118.
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular...
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Intravenous Anesthesia in Spinal Muscular Atrophy: A case report

Choi YH, Gwak M, Lee YK, Lee YM, Lee DH

Spinal muscular atrophy (SMA) is a rare lower motor neuron disease in which anesthetic management is often difficult, because the patients usually have muscle weakness and hypersensitivity to muscle relaxants....
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A Case of Spinal Muscular Atrophy with Extensive Involvement of Sensory Nerves

Sung KH, Lee JM, Lee R

  • KMID: 2329586
  • J Korean Child Neurol Soc.
  • 2006 Nov;14(2):322-327.
Spinal muscular atrophy(SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to the deletions of the survival motor neuron(SMN) genes localized on the chromosome 5(q11.2-q13.3)....
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Mitochondrial Respiratory Complex I Deficiency Simulating Spinal Muscular Atrophy

Lee JS, Ahn MS, Ryu KH, Hwang JS, Jung JW, Kim SH

  • KMID: 2329585
  • J Korean Child Neurol Soc.
  • 2006 Nov;14(2):316-321.
Two female patients with clinical features resembling spinal muscular atrophy are introduced. Patient 1 presented with hypotonia and proximal weakness of extremities at the age of 4 months. The electromyography...
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Noninvasive Positive Pressure Ventilation Using a Face Mask for a Child with Spinal Muscular Atrophy: A case report

Yun JY, Kim CS

Respiratory complications are a major cause of morbidity and mortality in pediatric neuromuscular disease. In adults with acute or chronic respiratory failure, noninvasive positive pressure ventilation (NIPPV) is superior to...
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General Anesthesia in a Child with Possible Spinal Muscular Atrophy Combined with Gingival Hyperplasia: A Case Report

Seo KS, Park CJ, Kim HJ, Yum KW

Spinal muscular atrophies are inherited neurodegenerative disorders affecting anterior horn cells. There are various problems, especially weakness of respiratory muscle and abnormal reaction to muscle relaxants during the general anesthesia....
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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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Clinical Classification of Spinal Muscular Atrophy

Bang MS, Park JW, Park IC

  • KMID: 2178712
  • J Korean Acad Rehabil Med.
  • 2003 Feb;27(1):38-42.
OBJECTIVE: To describe the classification and prognosis of the patients with spinal muscular atrophy (SMA). METHOD: The medical records of thirty one patients, who were diagnosed as SMA by electromyography...
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Correlation between Genotype and Phenotype in Korean patients with Spinal Muscular Atrophy

Won SY, Ryu KH, Lee EH, Hahn SH, Pai KS, Kim SH

  • KMID: 2007242
  • J Korean Child Neurol Soc.
  • 1999 Oct;7(1):10-20.
BACKGROUND: Spinal muscular atrophy (SMA) is the second most common disease with autosomal recessive mode of inheritance in children and characterized by degeneration of anterior horn cells of the spinal...
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Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues

Choi SK, Cho EH, Kim JW, Park SY, Kim YM, Ryu HM, Kang IS, Jun JY, Chi HG

  • KMID: 1540014
  • J Genet Med.
  • 1998 Dec;2(2):53-57.
Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate...
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Molecular biological diagnosis of Spinal Muscular atrophy

Lee KS, Hwang HY, Lee KH, Park MS, Hahn SH, Hong CH

  • KMID: 1963062
  • J Genet Med.
  • 1997 Sep;1(1):33-38.
Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease...
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Familial Spinal Muscular Atrophy wigh Autosomal Dominant Inheritance

Hwang YM, Lee IC

  • KMID: 2016067
  • J Korean Neurol Assoc.
  • 1990 Jun;8(1):154-158.
Familial occurrence of spinal muscular atrophy(SMA) is not infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance appears the most frequent mode of transmission....
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