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Volumn 98, Issue 5, 1996, Pages 1130-1132

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

Author keywords

congenital contractures; gene; inherited; motor neurons; Werdnig Hoffmann disease

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE DELETION; HUMAN; INFANT; MALE; MOTONEURON; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY; WERDNIG HOFFMANN DISEASE;

EID: 9544255675     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118895     Document Type: Article
Times cited : (81)

References (13)
  • 1
    • 0001127014 scopus 로고
    • Arthrogryposis multiplex congenita
    • Stern, W.G. 1923. Arthrogryposis multiplex congenita. JAMA. 81:1507-1510.
    • (1923) JAMA , vol.81 , pp. 1507-1510
    • Stern, W.G.1
  • 2
    • 0021948713 scopus 로고
    • Genetic aspects of arthrogryposis
    • Hall, J.G. 1985. Genetic aspects of arthrogryposis. Clin Orthop. Relat. Res. 194:44-53.
    • (1985) Clin Orthop. Relat. Res. , vol.194 , pp. 44-53
    • Hall, J.G.1
  • 3
    • 0022550695 scopus 로고
    • Arthrogryposis multiplex congenita: Spectrum of pathological changes
    • Banker, B.Q. 1986. Arthrogryposis multiplex congenita: spectrum of pathological changes. Hum Pathol. 117:656-672.
    • (1986) Hum Pathol. , vol.117 , pp. 656-672
    • Banker, B.Q.1
  • 4
    • 44949282843 scopus 로고
    • Workshop report: International SMA collaboration
    • Munsat, T.L. 1991. Workshop report: international SMA collaboration. Neuromuscular Disorders. 1:81.
    • (1991) Neuromuscular Disorders , vol.1 , pp. 81
    • Munsat, T.L.1
  • 6
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues, N.R., N. Owen, K. Talbot, J. Ignatius, V. Dubowitz, and K.E. Davies. 1995. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 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
  • 9
    • 0002791116 scopus 로고
    • Spinal muscular atrophy
    • A.E.H. Emery, Editor. European Neuromuscular Center. Baarn, The Netherlands
    • Munsat T.L. and K.E. Davies. 1994. Spinal muscular atrophy. In Diagnostic Criteria for Neuromuscular Disorders. A.E.H. Emery, Editor. European Neuromuscular Center. Baarn, The Netherlands. 48-54.
    • (1994) Diagnostic Criteria for Neuromuscular Disorders , pp. 48-54
    • Munsat, T.L.1    Davies, K.E.2
  • 13
    • 0002126185 scopus 로고
    • Can prenatal diagnosis be offered in neonatally lethal spinal muscular atrophy (SMA) with arthrogryposis and fractures?
    • Lunt, P.W., C. Mathew, S. Clark, N. Marlow, T. Moss, S. Love, L. Tyfield, T. Davies, and B. Spiedel. 1992. Can prenatal diagnosis be offered in neonatally lethal spinal muscular atrophy (SMA) with arthrogryposis and fractures? J. Med. Genet. 29:282.
    • (1992) J. Med. Genet. , vol.29 , pp. 282
    • Lunt, P.W.1    Mathew, C.2    Clark, S.3    Marlow, N.4    Moss, T.5    Love, S.6    Tyfield, L.7    Davies, T.8    Spiedel, B.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.