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Camptocormia Due to Selective Paraspinal Muscle Atrophy

Paik JW, Kang SY, Kim MA, Sohn YH

  • KMID: 2065675
  • J Korean Neurol Assoc.
  • 2008 May;26(2):162-164.
No abstract available.
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A Case of Spinal Muscular Atrophy with Hypertrophy of Calf-Muscles

Ahn MY, Lee KH

  • KMID: 1661995
  • J Korean Neurol Assoc.
  • 1986 Dec;4(2):235-238.
Hypertrophy of the calves has been described in spinal muscular atrophy (SMA) syndrome. Pearn and Hudgson described a new spinal muscular atrophy syndrome characterized adolescent onset, gross hypertrophy of the...
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Spinal Muscular Atrophy Type 2 in Siblings

Jeon JS, Lee DH, Cho BS, Chung SJ, Ahn CI

  • KMID: 1682820
  • J Korean Pediatr Soc.
  • 1989 May;32(5):718-723.
No abstract available.
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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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Diagnosis of Muscular Atrophy of the Extremities

No authors listed

No abstract available.
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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 study on spinal muscular atrophies

Chae SA, Hwang YS

  • KMID: 1690769
  • J Korean Pediatr Soc.
  • 1992 Dec;35(12):1728-1736.
No abstract available.
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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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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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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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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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Epidural anesthesia for the patient with type IV spinal muscular atrophy: A case report

Kim SJ, Kim EJ, Min BW, Ban JS, Lee SG, Lee JH

Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anesthetic management is often difficult as a result of muscle weakness, hypersensitivity to non-depolarizing neuromuscular blocking agent,...
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General anesthesia with endotracheal intubation for the patient with spinal muscular atrophy: A case report

Hong SJ, Lee JY, Kim DS

Spinal muscular atrophy (SMA) is a rare lower motor neuron disease without sensory loss that needs special care of anesthesiologists due to increased sensitivity to muscle relaxants, potential for aspiration...
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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 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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General anesthesia for a spinal muscular atrophy type I patientundergoing feeding gastrostomy: A case report

Jang EH, Cho KR, Kim HT, Lim SH, Lee JH, Lee KM, Cheong SH, Kim YJ, Shin CM

  • KMID: 1803585
  • Anesth Pain Med.
  • 2010 Oct;5(4):329-332.
Spinal muscular atrophy (SMA) in children leads to progressive muscle weakness, dysphagia, aspiration, and death. The most common and severe form of SMA is designated as type I, also known...
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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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A Case Report of Myotonia Atrophica

Ahn YC, Lee SH, Lee SC

The phenomenon of Myotonia consist in a failure of voluntary muscles to relax immediately when voluntary innervation ceases. The stiffness is accentuated by cold and relieved by exercise, while generalized...
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Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves

Lee R, Chung S, Koh SE, Lee IK, Lee J

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5...
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A Case of Ehlers-Danlos Syndrome Presenting with Neurological Symptoms

Jang YS, Park YH, Kim MK, Kim KS, Yoo KM, Suh KS

  • KMID: 2342848
  • J Korean Neurol Assoc.
  • 2000 Jul;18(4):515-517.
Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by fragility of the skin, hyperelasticity of the skin, hyperextensible joints, vascular lesions, easy bruising, and excessive scarring after injuries....
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