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Volumn 18, Issue 7, 2008, Pages 541-544

Survival in SMA type I: A prospective analysis of 34 consecutive cases

Author keywords

SMA I; SMN1 gene; Survival analysis; Werdnig Hoffmann

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 2;

EID: 46449121472     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.05.008     Document Type: Article
Times cited : (48)

References (15)
  • 1
    • 44949282843 scopus 로고
    • Workshop report International SMA Collaboration
    • Munsat T.L. Workshop report International SMA Collaboration. Neuromuscul Disord 1 2 (1991) 81
    • (1991) Neuromuscul Disord , vol.1 , Issue.2 , pp. 81
    • Munsat, T.L.1
  • 2
    • 0028067907 scopus 로고
    • The natural history of type I (severe) spinal muscular atrophy
    • Thomas N.H., and Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord 4 5-6 (1994) 497-502
    • (1994) Neuromuscul Disord , vol.4 , Issue.5-6 , pp. 497-502
    • Thomas, N.H.1    Dubowitz, V.2
  • 3
    • 0032991013 scopus 로고    scopus 로고
    • 59th ENMC International Workshop: SMA: recent progress and revised diagnostic criteria
    • Zerres K., and Davies K. 59th ENMC International Workshop: SMA: recent progress and revised diagnostic criteria. Neuromuscul Disord 9 (1999) 272-278
    • (1999) Neuromuscul Disord , vol.9 , pp. 272-278
    • Zerres, K.1    Davies, K.2
  • 4
    • 0036374555 scopus 로고    scopus 로고
    • Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival
    • Borkowska J., Rudnik-Schoneborn S., Hausmanowa-Petrusewicz I., and Zerres K. Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival. Folia Neuropathol 40 1 (2002) 19-26
    • (2002) Folia Neuropathol , vol.40 , Issue.1 , pp. 19-26
    • Borkowska, J.1    Rudnik-Schoneborn, S.2    Hausmanowa-Petrusewicz, I.3    Zerres, K.4
  • 5
    • 36049049285 scopus 로고    scopus 로고
    • The changing natural history of spinal muscular atrophy type 1
    • Oskoui M., Levy G., Garland C.J., et al. The changing natural history of spinal muscular atrophy type 1. Neurology 69 20 (2007) 1931-1936
    • (2007) Neurology , vol.69 , Issue.20 , pp. 1931-1936
    • Oskoui, M.1    Levy, G.2    Garland, C.J.3
  • 6
    • 0141506887 scopus 로고    scopus 로고
    • Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
    • Brichta L., Hofmann Y., Hahnen E., et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12 19 (2003) 2481-2489
    • (2003) Hum Mol Genet , vol.12 , Issue.19 , pp. 2481-2489
    • Brichta, L.1    Hofmann, Y.2    Hahnen, E.3
  • 7
    • 26444523139 scopus 로고    scopus 로고
    • Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
    • Jarecki J., Chen X., Bernardino A., et al. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet 14 14 (2005) 2003-2018
    • (2005) Hum Mol Genet , vol.14 , Issue.14 , pp. 2003-2018
    • Jarecki, J.1    Chen, X.2    Bernardino, A.3
  • 8
    • 4344647889 scopus 로고    scopus 로고
    • Concerns about the design of clinical trials for spinal muscular atrophy
    • Crawford T.O. Concerns about the design of clinical trials for spinal muscular atrophy. Neuromuscul Disord 14 8-9 (2004) 456-460
    • (2004) Neuromuscul Disord , vol.14 , Issue.8-9 , pp. 456-460
    • Crawford, T.O.1
  • 9
    • 33845232467 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
    • Arkblad E.L., Darin N., Berg K., et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 16 12 (2006) 830-838
    • (2006) Neuromuscul Disord , vol.16 , Issue.12 , pp. 830-838
    • Arkblad, E.L.1    Darin, N.2    Berg, K.3
  • 11
    • 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 4 5-6 (1994) 527-528
    • (1994) Neuromuscul Disord , vol.4 , Issue.5-6 , pp. 527-528
    • Ignatius, J.1
  • 12
    • 0030976172 scopus 로고    scopus 로고
    • Spinal muscular atrophy - clinical and genetic correlations
    • Zerres K., Wirth B., and Rudnik-Schoneborn S. Spinal muscular atrophy - clinical and genetic correlations. Neuromuscul Disord 7 3 (1997) 202-207
    • (1997) Neuromuscul Disord , vol.7 , Issue.3 , pp. 202-207
    • Zerres, K.1    Wirth, B.2    Rudnik-Schoneborn, S.3
  • 13
    • 16644394038 scopus 로고    scopus 로고
    • Spinal muscular atrophy: survival pattern and functional status
    • Chung B.H., Wong V.C., and Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics 114 5 (2004) e548-e553
    • (2004) Pediatrics , vol.114 , Issue.5
    • Chung, B.H.1    Wong, V.C.2    Ip, P.3
  • 14
    • 85081440110 scopus 로고    scopus 로고
    • Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival
    • Hachiya Y., Arai H., Hayashi M., et al. Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev 5 (2005)
    • (2005) Brain Dev , vol.5
    • Hachiya, Y.1    Arai, H.2    Hayashi, M.3
  • 15
    • 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., et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119 4 (2006) 422-428
    • (2006) Hum Genet , vol.119 , Issue.4 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.