메뉴 건너뛰기




Volumn 10, Issue 5, 1997, Pages 381-385

Spinal muscular atrophy

(1)  Melki, Judith a  

a CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; DISEASE SEVERITY; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; MOTONEURON; NERVE DEGENERATION; REVIEW; RNA METABOLISM; SPINAL CORD; SPINAL MUSCULAR ATROPHY;

EID: 0030765349     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199710000-00005     Document Type: Review
Times cited : (84)

References (50)
  • 1
    • 44949282843 scopus 로고
    • Workshop report, International SMA collaboration
    • Munsat TL: Workshop report, International SMA collaboration. Neuromusc Disord 1991, 1:81.
    • (1991) Neuromusc Disord , vol.1 , pp. 81
    • Munsat, T.L.1
  • 2
    • 34250556693 scopus 로고
    • Die fruhinfantile progressive spinale amyotrophie
    • Werdnig G: Die fruhinfantile progressive spinale amyotrophie [in German]. Arch Psychiatr 1894, 26:706-744.
    • (1894) Arch Psychiatr , vol.26 , pp. 706-744
    • Werdnig, G.1
  • 3
    • 0000775709 scopus 로고
    • Uber die hereditare progressive spinale muskelatrophie im kindesalter
    • Hoffmann J: Uber die hereditare progressive spinale muskelatrophie im kindesalter [in German]. Muenchen Med Wschr 1900, 47:1649-1651.
    • (1900) Muenchen Med Wschr , vol.47 , pp. 1649-1651
    • Hoffmann, J.1
  • 4
    • 0000089061 scopus 로고
    • Heredo-familial juvenile muscular atrophy simulating muscular dystrophy
    • Kugelberg E, Welander L: Heredo-familial juvenile muscular atrophy simulating muscular dystrophy. Arch Neurol Psychiatry 1956, 75:500-509.
    • (1956) Arch Neurol Psychiatry , vol.75 , pp. 500-509
    • Kugelberg, E.1    Welander, L.2
  • 5
    • 0014738771 scopus 로고
    • Selective and non-selective susceptibility fo muscle fibre types
    • Engel WK: Selective and non-selective susceptibility fo muscle fibre types. Arch Neurol 1970, 22:97-117.
    • (1970) Arch Neurol , vol.22 , pp. 97-117
    • Engel, W.K.1
  • 6
    • 0024310186 scopus 로고
    • A Hungarian study on Werdnig-Hoffmann disease
    • Czeizel A, Hamula J: A Hungarian study on Werdnig-Hoffmann disease. J Med Genet 1989, 26:761-763.
    • (1989) J Med Genet , vol.26 , pp. 761-763
    • Czeizel, A.1    Hamula, J.2
  • 7
    • 0344255833 scopus 로고
    • The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in North-East England
    • Pearn J. The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in North-East England. J Med Genet 1973, 10:260-265.
    • (1973) J Med Genet , vol.10 , pp. 260-265
    • Pearn, J.1
  • 8
    • 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, 15:409-413.
    • (1978) J Med Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 10
    • 0029009458 scopus 로고
    • A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2
    • Kobayashi H, Baumbach L, Matise TC, Schiavi A, Greenberg F, Hoffman EP: A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. Hum Mol Genet 1995, 4:1213-1216.
    • (1995) Hum Mol Genet , vol.4 , pp. 1213-1216
    • Kobayashi, H.1    Baumbach, L.2    Matise, T.C.3    Schiavi, A.4    Greenberg, F.5    Hoffman, E.P.6
  • 11
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 22
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis is partially deleted in individuals with type 1, 2 and 3 spinal muscular atrophy (SMA)
    • Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X et al.: The gene for neuronal apoptosis inhibitory protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis is partially deleted in individuals with type 1, 2 and 3 spinal muscular atrophy (SMA). Cell 1995, 80:167-178.
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3    Shutler, G.4    Yaraghi, Z.5    Farahani, R.6    Baird, S.7    Besner-Johnston, A.8    Lefebvre, C.9    Kang, X.10
  • 24
    • 0028180697 scopus 로고
    • p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair
    • Humberts, Van Vuuren H, Lutz Y, Hoeijmakers JHJ, Egly JM, Moncollin V: p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. EMBO J 1994, 13:2393-2398.
    • (1994) EMBO J , vol.13 , pp. 2393-2398
    • Humberts1    Van Vuuren, H.2    Lutz, Y.3    Hoeijmakers, J.H.J.4    Egly, J.M.5    Moncollin, V.6
  • 25
    • 0031026977 scopus 로고    scopus 로고
    • The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease
    • Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Viegas-Pequignot E, Egly JM, Melki J: The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet 1997, 60:72-79.
    • (1997) Am J Hum Genet , vol.60 , pp. 72-79
    • Bürglen, L.1    Seroz, T.2    Miniou, P.3    Lefebvre, S.4    Burlet, P.5    Munnich, A.6    Viegas-Pequignot, E.7    Egly, J.M.8    Melki, J.9
  • 27
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE: Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995, 4:631-634.
    • (1995) Hum Mol Genet , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 30
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy, evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen E, Forkert R, Marke C, Rudnick-Schoneborn S, Schonung J, Zerres K, Wirth B: Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy, evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995, 4:1927-1933.
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnick-Schoneborn, S.4    Schonung, J.5    Zerres, K.6    Wirth, B.7
  • 31
    • 0029803986 scopus 로고    scopus 로고
    • Frameshift mutation in the survival motor neuron in a severe case of SMA type I
    • Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G: Frameshift mutation in the survival motor neuron in a severe case of SMA type I. Hum Mol Genets 1996, 5:1971-1976.
    • (1996) Hum Mol Genets , vol.5 , pp. 1971-1976
    • Brahe, C.1    Clermont, O.2    Zappata, S.3    Tiziano, F.4    Melki, J.5    Neri, G.6
  • 32
    • 0029827514 scopus 로고    scopus 로고
    • A 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy: Further evidence for SMN as the primary SMA-determining gene
    • Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AHM, Prior TW: A 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet 1996, 5:1727-1732.
    • (1996) Hum Mol Genet , vol.5 , pp. 1727-1732
    • Parsons, D.W.1    McAndrew, P.E.2    Monani, U.R.3    Mendell, J.R.4    Burghes, A.H.M.5    Prior, T.W.6
  • 33
    • 0030987818 scopus 로고    scopus 로고
    • Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
    • Hahnen E, Schonling J, Rudnick-Schoneborn S, Raschke H, Zerres K, Wirth B: Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 1997, 6:821-825.
    • (1997) Hum Mol Genet , vol.6 , pp. 821-825
    • Hahnen, E.1    Schonling, J.2    Rudnick-Schoneborn, S.3    Raschke, H.4    Zerres, K.5    Wirth, B.6
  • 34
    • 0031044279 scopus 로고    scopus 로고
    • Missense mutation clustering in the survival motor neuron gene: A role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism
    • Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees, Mountford R, Davies KE: Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism. Hum Mol Genet 1997, 6:497-500.
    • (1997) Hum Mol Genet , vol.6 , pp. 497-500
    • Talbot, K.1    Ponting, C.P.2    Theodosiou, A.M.3    Rodrigues, N.R.4    Surtees5    Mountford, R.6    Davies, K.E.7
  • 35
    • 0028812154 scopus 로고
    • Genes for SMA, multum in parvo
    • Lewin B: Genes for SMA, multum in parvo. Cell 1995, 80:1-5.
    • (1995) Cell , vol.80 , pp. 1-5
    • Lewin, B.1
  • 40
    • 0028978717 scopus 로고
    • Genetic homogeneity between childhood-onset and adult onset autosomal recessive spinal muscular atrophy
    • Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G: Genetic homogeneity between childhood-onset and adult onset autosomal recessive spinal muscular atrophy. Lancet 1995, 346:741-742.
    • (1995) Lancet , vol.346 , pp. 741-742
    • Brahe, C.1    Servidei, S.2    Zappata, S.3    Ricci, E.4    Tonali, P.5    Neri, G.6
  • 47
    • 0029858451 scopus 로고    scopus 로고
    • Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
    • Hahnen E, Schonling J, Rudnick-Schoneborn S, Zerres K, Wirth B: Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet 1996, 59:1057-1065.
    • (1996) Am J Hum Genet , vol.59 , pp. 1057-1065
    • Hahnen, E.1    Schonling, J.2    Rudnick-Schoneborn, S.3    Zerres, K.4    Wirth, B.5
  • 49
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Liu Q, Dreyfuss G: A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996, 15:3555-3565.
    • (1996) EMBO J , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.