- A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report
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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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- Neuronal Apoptosis Inhibitory Protein is Overexpressed in Patients with Unfavorable Prognostic Factors in Breast Cancer
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Choi J, Hwang YK, Choi YJ, Yoo KE, Kim JH, Nam SJ, Yang JH, Lee SJ, Yoo KH, Sung KW, Koo HH, Im YH
- KMID: 1785784
- J Korean Med Sci.
- 2007 Sep;22(Suppl):S17-S23.
- doi: 10.3346/jkms.2007.22.S.S17
Neuronal apoptosis inhibitory protein (NAIP) is a recently identified inhibitor of apoptosis protein. However, the clinical relevance of NAIP expression is not completely understood. In an attempt to determine the... -
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- Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues
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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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- Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy
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Ahn EJ, Yum MS, Kim EH, Yoo HW, Lee BH, Kim GH, Ko TS
- KMID: 2364894
- J Clin Neurol.
- 2017 Jan;13(1):27-31.
- doi: 10.3988/jcn.2017.13.1.27
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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