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Volumn 56, Issue 11, 1999, Pages 1378-1381

Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DYSPHAGIA; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MUSCLE WEAKNESS; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PTOSIS;

EID: 0032751770     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.56.11.1378     Document Type: Article
Times cited : (26)

References (12)
  • 1
    • 0000232611 scopus 로고
    • Oculopharyngeal muscular dystrophy: Familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids
    • Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy: familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. NEnglJMed. 1962:267:1267-1272.
    • (1962) NEnglJMed. , vol.267 , pp. 1267-1272
    • Victor, M.1    Hayes, R.2    Adams, R.D.3
  • 2
    • 0028915818 scopus 로고
    • The Oculopharyngeal muscular dystrophy locus maps to the region of the cardiac a and myosin heavy chain genes on chromosome"! 4q11.2-q13
    • Brais B, Xie YG, Sanson M, et al. The Oculopharyngeal muscular dystrophy locus maps to the region of the cardiac a and myosin heavy chain genes on chromosome"! 4q11.2-q13. Hum Mol Genet. 1995:4:429-434.
    • (1995) Hum Mol Genet. , vol.4 , pp. 429-434
    • Brais, B.1    Xie, Y.G.2    Sanson, M.3
  • 3
    • 17344371397 scopus 로고    scopus 로고
    • Short GCG expansions in the PABP2 gene cause Oculopharyngeal muscular dystrophy [published correction appears in Auf Genet. 1998:19:404
    • Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause Oculopharyngeal muscular dystrophy [published correction appears in Auf Genet. 1998:19:404). Nat Genet. 1998:18:164-167.
    • (1998) Nat Genet. , vol.18 , pp. 164-167
    • Brais, B.1    Bouchard, J.P.2    Xie, Y.G.3
  • 4
    • 10544219602 scopus 로고    scopus 로고
    • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13
    • Stajich JM, Gilchrist JM, Lennon F, et al. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. Ann Neural. 1996; 40:801-804.
    • (1996) Ann Neural. , vol.40 , pp. 801-804
    • Stajich, J.M.1    Gilchrist, J.M.2    Lennon, F.3
  • 5
    • 17444368522 scopus 로고    scopus 로고
    • Disorders of skeletal muscle
    • Bradley WG, Daroff RB, Fenichel GM, Marsden CD, eds.
    • Brooke MH, Cwik VE. Disorders of skeletal muscle. In: Bradley WG, Daroff RB, Fenichel GM, Marsden CD, eds. Neurology in Clinical Practice. Vol 2. 2nd ed. Newton, Mass: Butterworth-Heinemann; 1996:2016-2018.
    • (1996) Neurology in Clinical Practice. Vol 2. 2nd Ed. , vol.2 , pp. 2016-2018
    • Brooke, M.H.1    Cwik, V.E.2
  • 9
    • 0031048466 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy (OPMD): Report and genetic studies of an Australian kindred
    • Teh BT, Sullivan AA, Farnebo F, et al. Oculopharyngeal muscular dystrophy (OPMD): report and genetic studies of an Australian kindred. Clin Genet. 1997:51:52-55.
    • (1997) Clin Genet. , vol.51 , pp. 52-55
    • Teh, B.T.1    Sullivan, A.A.2    Farnebo, F.3
  • 12
    • 0029946921 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy in Norway: Survey of a large Norwegian family
    • Salvesen R, Brautaset NJ. Oculopharyngeal muscular dystrophy in Norway: survey of a large Norwegian family. Acta Neurol Scand. 1996:93:281-285.
    • (1996) Acta Neurol Scand. , vol.93 , pp. 281-285
    • Salvesen, R.1    Brautaset, N.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.