메뉴 건너뛰기




Volumn 37, Issue 5, 2005, Pages 407-412

Quantitative analysis of SMN2 based on real-time PCR: Correlation of clinical severity and SMN2 gene dosage

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN;

EID: 25144523447     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (18)
  • 1
    • 0027057672 scopus 로고
    • International SMA Consortium Meeting (26-28 June 1992, Bonn, Germany)
    • Munsat TL, Davies KE. International SMA Consortium Meeting (26-28 June 1992, Bonn, Germany). Neuromuscl Disord 1992;2:423-8.
    • (1992) Neuromuscl Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2
  • 2
    • 0028904953 scopus 로고
    • Natural history in proximal spinal (SMA): Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres K, Rudnig-Shoneborn S. Natural history in proximal spinal (SMA): clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995; 52: 518-23.
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnig-Shoneborn, S.2
  • 3
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-65.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 4
    • 0343267780 scopus 로고    scopus 로고
    • Structure and organization of the human survival motor neuron (SMN) gene
    • Burglen L, Lefebvre S, Clermont O, et al. Structure and organization of the human survival motor neuron (SMN) gene. Genomics 1996; 32: 479-82.
    • (1996) Genomics , vol.32 , pp. 479-482
    • Burglen, L.1    Lefebvre, S.2    Clermont, O.3
  • 5
    • 0034869225 scopus 로고    scopus 로고
    • Best practice guidelines for molecular analysis in spinal muscular atrophy
    • Scheffer H, Cobben JM, Matthijs G, Wirth B. Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet 2001; 9: 484-91.
    • (2001) Eur J Hum Genet , vol.9 , pp. 484-491
    • Scheffer, H.1    Cobben, J.M.2    Matthijs, G.3    Wirth, B.4
  • 6
    • 0033358719 scopus 로고    scopus 로고
    • Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    • Wirth B, Herz M, Wetter A, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 1999; 64: 1340-56.
    • (1999) Am J Hum Genet , vol.64 , pp. 1340-1356
    • Wirth, B.1    Herz, M.2    Wetter, A.3
  • 7
    • 8544283791 scopus 로고    scopus 로고
    • The survival motor neuron protein in spinal muscular atrophy
    • Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997; 6: 1205-14.
    • (1997) Hum Mol Genet , vol.6 , pp. 1205-1214
    • Coovert, D.D.1    Le, T.T.2    McAndrew, P.E.3
  • 8
    • 0033987669 scopus 로고    scopus 로고
    • A mouse model for spinal muscular atrophy
    • Hsieh-Li HM, Chang JG, Jong YJ, et al. A mouse model for spinal muscular atrophy. Nat Genet 2000; 24: 66-70.
    • (2000) Nat Genet , vol.24 , pp. 66-70
    • Hsieh-Li, H.M.1    Chang, J.G.2    Jong, Y.J.3
  • 9
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96: 6307-11.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 10
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997; 61: 40-50.
    • (1997) Am J Hum Genet , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3    Dubowitz, V.4    Davies, K.5
  • 11
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of CBCD541 and SMA phenotype
    • Velasco E, Valero C, Valero A, Moreno F, Hernandez-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of CBCD541 and SMA phenotype. Hum Mol Genet 1996; 5: 257-63.
    • (1996) Hum Mol Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernandez-Chico, C.5
  • 12
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997; 60: 1411-22.
    • (1997) Am J Hum Genet , vol.60 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3
  • 13
    • 0034897708 scopus 로고    scopus 로고
    • The gene copy ratios of SMN1/SMN2 in Japanese carriers with Type I spinal muscular atrophy
    • Diep Tran T, Kroepfl T, Saito M, et al. The gene copy ratios of SMN1/SMN2 in Japanese carriers with Type I spinal muscular atrophy. Brain Dev 2001; 23: 321-6.
    • (2001) Brain Dev , vol.23 , pp. 321-326
    • Diep Tran, T.1    Kroepfl, T.2    Saito, M.3
  • 14
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • Van der Steege G, Grootscholten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345: 985-6.
    • (1995) Lancet , vol.345 , pp. 985-986
    • Van Der Steege, G.1    Grootscholten, P.M.2    Van Der Vlies, P.3
  • 15
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analysis of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction severity of spinal muscular atrophy
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analysis of SMN1 and SMN2 based on real-time lightcycler PCR: fast and highly reliable carrier testing and prediction severity of spinal muscular atrophy. Am J Hum Genet 2002; 70: 358-68.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 16
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • Hofmann Y, Lorson CL, Stamm S, Androphy FJ, Wirth B. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 2000; 97: 9618-23.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 9618-9623
    • Hofmann, Y.1    Lorson, C.L.2    Stamm, S.3    Androphy, F.J.4    Wirth, B.5
  • 18
    • 0036042048 scopus 로고    scopus 로고
    • Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: Three SMN2 copies fail to rescue some patients from the disease severity
    • Harada Y, Sutomo R, Sadewa AH et al. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J Neurol 2002; 249: 1211-9.
    • (2002) J Neurol , vol.249 , pp. 1211-1219
    • Harada, Y.1    Sutomo, R.2    Sadewa, A.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.