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Volumn 53, Issue 11, 2010, Pages 965-970

Survival analysis of spinal muscular atrophy type I

Author keywords

Spinal muscular atrophy; Survival; Survival analysis

Indexed keywords


EID: 79951803039     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2010.53.11.965     Document Type: Article
Times cited : (24)

References (27)
  • 2
    • 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, Moskau S, Hahnen E, Rudnik-Schoneborn S, 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    Moskau, S.4    Hahnen, E.5    Rudnik-Schoneborn, S.6
  • 3
    • 0344255833 scopus 로고
    • The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England
    • Pearn JH. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. J Med Genet 1973;10:260-5.
    • (1973) J Med Genet , vol.10 , pp. 260-265
    • Pearn, J.H.1
  • 4
    • 0018238065 scopus 로고
    • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-13.
    • (1978) J Med Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 5
    • 16644394038 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Survival pattern and functional status
    • Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics 2004;114:e548-53.
    • (2004) Pediatrics , vol.114
    • Chung, B.H.1    Wong, V.C.2    Ip, P.3
  • 6
    • 0037731611 scopus 로고    scopus 로고
    • Prevalence of neuromuscular diseases in Chinese children: A study in southern China
    • Chung B, Wong V, Ip P. Prevalence of neuromuscular diseases in Chinese children: a study in southern China. J Child Neurol 2003;18:217-9.
    • (2003) J Child Neurol , vol.18 , pp. 217-219
    • Chung, B.1    Wong, V.2    Ip, P.3
  • 7
    • 0032991013 scopus 로고    scopus 로고
    • 59th ENMC International Workshop: Spinal Muscular Atrophies: Recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands
    • Zerres K, Davies KE. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord 1999;9:272-8.
    • (1999) Neuromuscul Disord , vol.9 , pp. 272-278
    • Zerres, K.1    Davies, K.E.2
  • 8
    • 44949282843 scopus 로고
    • Workshop report International SMA Collaboration
    • Munsat TL. Workshop report International SMA Collaboration. Neuromuscul Disord 1991;1:81.
    • (1991) Neuromuscul Disord , vol.1 , pp. 81
    • Munsat, T.L.1
  • 10
    • 36248963510 scopus 로고    scopus 로고
    • A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy
    • Nadeau A, D'Anjou G, Debray G, Robitaille Y, Simard LR, Vanasse M. A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. J Child Neurol 2007;22:1301-4.
    • (2007) J Child Neurol , vol.22 , pp. 1301-1304
    • Nadeau, A.1    D'Anjou, G.2    Debray, G.3    Robitaille, Y.4    Simard, L.R.5    Vanasse, M.6
  • 11
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000;15:228-37.
    • (2000) Hum Mutat , vol.15 , pp. 228-237
    • Wirth, B.1
  • 13
    • 0000220374 scopus 로고
    • Infantile muscular atrophy
    • Byers RK, Banker BQ. Infantile muscular atrophy. Arch Neurol 1961;5:140-64.
    • (1961) Arch Neurol , vol.5 , pp. 140-164
    • Byers, R.K.1    Banker, B.Q.2
  • 14
    • 0027997573 scopus 로고
    • The natural history of severe spinal muscular atrophy--further evidence for clinical subtypes
    • Ignatius J. The natural history of severe spinal muscular atrophy--further evidence for clinical subtypes. Neuromuscul Disord 1994;4:527-8.
    • (1994) Neuromuscul Disord , vol.4 , pp. 527-528
    • Ignatius, J.1
  • 15
    • 0028067907 scopus 로고
    • The natural history of type I (severe) spinal muscular atrophy
    • Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord 1994;4:497-502.
    • (1994) Neuromuscul Disord , vol.4 , pp. 497-502
    • Thomas, N.H.1    Dubowitz, V.2
  • 16
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. 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    Rudnik-Schoneborn, S.2
  • 18
    • 4544350134 scopus 로고    scopus 로고
    • Respiratory capacity course in patients with infantile spinal muscular atrophy
    • Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest 2004;126:831-7.
    • (2004) Chest , vol.126 , pp. 831-837
    • Ioos, C.1    Leclair-Richard, D.2    Mrad, S.3    Barois, A.4    Estournet-Mathiaud, B.5
  • 20
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of 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
  • 21
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006;119:422-8.
    • (2006) Hum Genet , vol.119 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3    Lochmuller, H.4    Blick, S.5    Baasner, A.6
  • 22
    • 0030863569 scopus 로고    scopus 로고
    • When is a deletion not a deletion? when it is converted
    • Burghes AH. When is a deletion not a deletion? when it is converted. Am J Hum Genet 1997;61:9-15.
    • (1997) Am J Hum Genet , vol.61 , pp. 9-15
    • Burghes, A.H.1
  • 23
    • 57349199403 scopus 로고    scopus 로고
    • Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
    • Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, et al. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy. Brain Dev 2009;31:42-5.
    • (2009) Brain Dev , vol.31 , pp. 42-45
    • Watihayati, M.S.1    Fatemeh, H.2    Marini, M.3    Atif, A.B.4    Zahiruddin, W.M.5    Sasongko, T.H.6
  • 24
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-83.
    • (1999) Hum Mol Genet , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3    Prior, T.W.4    Androphy, E.J.5    Burghes, A.H.6
  • 26
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000;9:259-65.
    • (2000) Hum Mol Genet , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 27
    • 0141834020 scopus 로고    scopus 로고
    • Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
    • Helmken C, Hofmann Y, Schoenen F, Oprea G, Raschke H, Rudnik- Schoneborn S, et al. Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet 2003;114:11-21.
    • (2003) Hum Genet , vol.114 , pp. 11-21
    • Helmken, C.1    Hofmann, Y.2    Schoenen, F.3    Oprea, G.4    Raschke, H.5    Rudnik-Schoneborn, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.