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Volumn 44, Issue 5, 1998, Pages 836-839

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL SURVIVAL; CHILD; CHROMOSOME 8; DISEASE SEVERITY; EXON; GENE DELETION; GENE ISOLATION; HUMAN; MALE; MOTONEURON; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TELOMERE;

EID: 18244427458     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440522     Document Type: Article
Times cited : (35)

References (15)
  • 1
    • 0027057672 scopus 로고
    • Meeting report: International SMA Consortium meeting
    • Munsat TM, Davies KE. Meeting report: International SMA Consortium meeting. Neuromuscul Disord 1992;2:423-428
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.M.1    Davies, K.E.2
  • 2
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;344:540-541
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 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;80:155-165
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 4
    • 0031442184 scopus 로고    scopus 로고
    • Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
    • Iwahashi H, Eguchi Y, Yasuhara N, et al. Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature 1997;390(6658):413-417
    • (1997) Nature , vol.390 , Issue.6658 , pp. 413-417
    • Iwahashi, H.1    Eguchi, Y.2    Yasuhara, N.3
  • 5
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitor protein is partially deleted in individuals with spinal muscular atrophy
    • Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitor protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-178
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3
  • 6
    • 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, et al. 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
  • 7
    • 0031059705 scopus 로고    scopus 로고
    • Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
    • DiDonato CJ, Ingraham SE, Mendell JR, et al. Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 1997;41:230-237
    • (1997) Ann Neurol , vol.41 , pp. 230-237
    • DiDonato, C.J.1    Ingraham, S.E.2    Mendell, J.R.3
  • 8
    • 0030976172 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Clinical and genetic correlations
    • Zerres K, Rudnik-Schoneborn S. Spinal muscular atrophy: clinical and genetic correlations. Neuromuscul Disord 1997;7:202-207
    • (1997) Neuromuscul Disord , vol.7 , pp. 202-207
    • Zerres, K.1    Rudnik-Schoneborn, S.2
  • 10
    • 0028842926 scopus 로고
    • A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
    • Bussaglia E, Clement O, Tizzano E, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995;11:335-337
    • (1995) Nat Genet , vol.11 , pp. 335-337
    • Bussaglia, E.1    Clement, O.2    Tizzano, E.3
  • 11
    • 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;345:985-986
    • (1995) Lancet , vol.345 , pp. 985-986
    • Van Der Steege, G.1    Grootscholten, P.M.2    Van Der Vlies, P.3
  • 12
    • 0028143527 scopus 로고
    • CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Tanikawi M, et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Tanikawi, M.3
  • 13
    • 0028017992 scopus 로고
    • Identification and characterization of the gene causing type 1 spinocerebellar ataxia
    • Banfi S, Servadio A, Chung M, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7:513-520
    • (1994) Nat Genet , vol.7 , pp. 513-520
    • Banfi, S.1    Servadio, A.2    Chung, M.3
  • 14
    • 0027140480 scopus 로고
    • Tumor suppression by RNA from the 3′ untranslated region of a a-tropomyosin
    • Rastinejad F, Conboy MJ, Rando TA, Blau HM. Tumor suppression by RNA from the 3′ untranslated region of a a-tropomyosin. Cell 1993;75:513-520
    • (1993) Cell , vol.75 , pp. 513-520
    • Rastinejad, F.1    Conboy, M.J.2    Rando, T.A.3    Blau, H.M.4
  • 15
    • 0029790284 scopus 로고    scopus 로고
    • Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
    • Parano E, Pavone L, Falsaperla R, et al. Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy. Ann Neurol 1996;40:247-251
    • (1996) Ann Neurol , vol.40 , pp. 247-251
    • Parano, E.1    Pavone, L.2    Falsaperla, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.