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Volumn 65, Issue 9, 2005, Pages 1465-1466

Stiff child syndrome with mutation of DYT1 gene

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; GLUTAMATE DECARBOXYLASE;

EID: 27644541397     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000183153.82651.72     Document Type: Article
Times cited : (10)

References (10)
  • 1
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    • The DYT 1 phenotype and guidelines for diagnostic testing
    • Bressman SSC, Raymond D, de Leon, D, et al. The DYT 1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-1753.
    • (2000) Neurology , vol.54 , pp. 1746-1753
    • Bressman, S.S.C.1    Raymond, D.2    De Leon, D.3
  • 2
    • 0024657745 scopus 로고
    • Human gene for torsion dystonia located on chromosome 9q32-q34
    • Ozelius L, Karmer PL, Moskowitz CB, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989;2:1427-1434.
    • (1989) Neuron , vol.2 , pp. 1427-1434
    • Ozelius, L.1    Karmer, P.L.2    Moskowitz, C.B.3
  • 3
    • 15144348731 scopus 로고    scopus 로고
    • Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium
    • Ozelius LJ, Hewett J, Kramer P, et al. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res 1997;7:483-494.
    • (1997) Genome Res , vol.7 , pp. 483-494
    • Ozelius, L.J.1    Hewett, J.2    Kramer, P.3
  • 4
    • 0001000551 scopus 로고
    • Progressive fluctuating muscular rigidity and spasm ("stiff man" syndrome): Report of a case and observations in 13 other cases
    • Moersch FP, Woltman HW. Progressive fluctuating muscular rigidity and spasm ("stiff man" syndrome): report of a case and observations in 13 other cases. Mayo Clin Proc 1956;31:421-427.
    • (1956) Mayo Clin Proc , vol.31 , pp. 421-427
    • Moersch, F.P.1    Woltman, H.W.2
  • 5
    • 0036764836 scopus 로고    scopus 로고
    • Stiff man syndrome and related conditions
    • Meinck HM, Thompson PD. Stiff man syndrome and related conditions. Mov Disord 2002;17:853-866.
    • (2002) Mov Disord , vol.17 , pp. 853-866
    • Meinck, H.M.1    Thompson, P.D.2
  • 6
    • 0033018161 scopus 로고    scopus 로고
    • Stiff-man syndrome and its variants
    • Shaw PJ. Stiff-man syndrome and its variants. Lancet 1999;353:86-87.
    • (1999) Lancet , vol.353 , pp. 86-87
    • Shaw, P.J.1
  • 7
    • 10744223557 scopus 로고    scopus 로고
    • Mutations in DYT1: Extension of the phenotypic and mutational spectrum
    • Kabakci KH, Hedrich K, Leung JC, et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004;62:395-400.
    • (2004) Neurology , vol.62 , pp. 395-400
    • Kabakci, K.H.1    Hedrich, K.2    Leung, J.C.3
  • 8
    • 0031797115 scopus 로고    scopus 로고
    • The role of DYT1 in primary torsion dystonia in Europe
    • Valente EM, Warner TT, Jarman PR, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998;121:2335-2339.
    • (1998) Brain , vol.121 , pp. 2335-2339
    • Valente, E.M.1    Warner, T.T.2    Jarman, P.R.3
  • 9
    • 0031765541 scopus 로고    scopus 로고
    • Review of 23 patients affected by the stiff man syndrome: Clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity
    • Barker RA, Revesz T, Thom M, Marsden CD, Brown P. Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity. J Neurol Neurosurg Psychiatry 1998;65:633-640.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 633-640
    • Barker, R.A.1    Revesz, T.2    Thom, M.3    Marsden, C.D.4    Brown, P.5
  • 10
    • 0037746661 scopus 로고    scopus 로고
    • Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
    • Edwards M, Wood N, Bhatia K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord 2003;18:706-711.
    • (2003) Mov Disord , vol.18 , pp. 706-711
    • Edwards, M.1    Wood, N.2    Bhatia, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.