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Volumn 70, Issue 16 PART 2, 2008, Pages 1373-1374

Hunting for genes and mutations: It's worth remembering the basics

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

EID: 42049084157     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000310406.59654.dc     Document Type: Editorial
Times cited : (7)

References (8)
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    • Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5
    • Wider C, Melquist S, Hauf M, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008; 70:1377-1383.
    • (2008) Neurology , vol.70 , pp. 1377-1383
    • Wider, C.1    Melquist, S.2    Hauf, M.3
  • 2
    • 0037172668 scopus 로고    scopus 로고
    • Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
    • Grotzsch H, Pizzolato GP, Ghika J, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002;58: 1839-1842.
    • (2002) Neurology , vol.58 , pp. 1839-1842
    • Grotzsch, H.1    Pizzolato, G.P.2    Ghika, J.3
  • 3
    • 0027377709 scopus 로고
    • Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
    • Nygaard TG, Wilhelmsen KC, Risch NJ, et al.. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 1993;5:386-391.
    • (1993) Nat Genet , vol.5 , pp. 386-391
    • Nygaard, T.G.1    Wilhelmsen, K.C.2    Risch, N.J.3
  • 4
    • 0028902943 scopus 로고
    • Characterization of mouse and human GTP cyclohydrolase I genes: Mutations in patients with GTP cyclohydrolase I deficiency
    • Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes: mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem 1995;270:10062-10071.
    • (1995) J Biol Chem , vol.270 , pp. 10062-10071
    • Ichinose, H.1    Ohye, T.2    Matsuda, Y.3
  • 5
    • 20044379941 scopus 로고    scopus 로고
    • High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening
    • Hagenah J, Saunders-Pullman R, Hedrich K, et al. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005;64:908-911.
    • (2005) Neurology , vol.64 , pp. 908-911
    • Hagenah, J.1    Saunders-Pullman, R.2    Hedrich, K.3
  • 6
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 8
    • 0242300619 scopus 로고    scopus 로고
    • α-Synuclein locus triplication causes Parkinson's disease
    • Singleton AB, Farrer M, Johnson J, et al. α-Synuclein locus triplication causes Parkinson's disease. Science 2003;302:841.
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.