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Volumn 64, Issue 4, 2005, Pages 737-739

The epsilon-sarcoglycan gene in myoclonic syndromes

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DYSTONIA; EPSILON SARCOGLYCAN GENE; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MYOCLONUS; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 13844306505     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000151979.68010.9B     Document Type: Article
Times cited : (58)

References (10)
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    • Quinn, N.P.1    Rothwell, J.C.2    Thompson, P.D.3    Marsden, C.D.4
  • 2
    • 0029882099 scopus 로고    scopus 로고
    • Essential myoclonus and myoclonic dystonia
    • Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996;11:119-124.
    • (1996) Mov Disord , vol.11 , pp. 119-124
    • Quinn, N.P.1
  • 5
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet 2001;29:66-69.
    • (2001) Nature Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 6
    • 0031604087 scopus 로고    scopus 로고
    • Inherited myoclonus-dystonia syndrome
    • Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78: 325-334.
    • (1998) Adv Neurol , vol.78 , pp. 325-334
    • Gasser, T.1
  • 7
    • 0014127906 scopus 로고
    • Hereditary essential myoclonus
    • Mahloudji M, Pikielny RT. Hereditary essential myoclonus. Brain 1967; 90:669-674.
    • (1967) Brain , vol.90 , pp. 669-674
    • Mahloudji, M.1    Pikielny, R.T.2
  • 8
    • 0037301222 scopus 로고    scopus 로고
    • The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
    • Grabowski M, Zimprich A, Lorenz-Depiereux B, et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003;11:138-144.
    • (2003) Eur J Hum Genet , vol.11 , pp. 138-144
    • Grabowski, M.1    Zimprich, A.2    Lorenz-Depiereux, B.3
  • 9
    • 0037159102 scopus 로고    scopus 로고
    • Phenotypic features of myoclonus-dystonia in three kindreds
    • Doheny DO, Brin MF, Morrison CE, et al. Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002;59:1187-1196.
    • (2002) Neurology , vol.59 , pp. 1187-1196
    • Doheny, D.O.1    Brin, M.F.2    Morrison, C.E.3
  • 10
    • 0037746661 scopus 로고    scopus 로고
    • Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
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    • Edwards, M.J.1    Wood, N.2    Bhatia, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.