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Volumn 26, Issue 4, 2011, Pages 762-764

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIN 1; SODIUM CHLORIDE COTRANSPORTER;

EID: 79955040223     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23475     Document Type: Letter
Times cited : (4)

References (8)
  • 1
    • 33947620465 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
    • Kikuchi T, Nomura M, Tomita H, et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 2007; 52: 334-341.
    • (2007) J Hum Genet , vol.52 , pp. 334-341
    • Kikuchi, T.1    Nomura, M.2    Tomita, H.3
  • 2
    • 0033361838 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
    • Tomita H, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 1999; 65: 1688-1697.
    • (1999) Am J Hum Genet , vol.65 , pp. 1688-1697
    • Tomita, H.1    Nagamitsu, S.2    Wakui, K.3
  • 3
    • 0033775093 scopus 로고    scopus 로고
    • A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
    • Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000; 123: 2040-2045.
    • (2000) Brain , vol.123 , pp. 2040-2045
    • Valente, E.M.1    Spacey, S.D.2    Wali, G.M.3
  • 4
    • 0033960165 scopus 로고    scopus 로고
    • A locus for paroxysmal kinesigenic dyskinesia map to human chromosome 16
    • Bennett LB, Roach S, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia map to human chromosome 16. Neurology 2000; 54: 125-130.
    • (2000) Neurology , vol.54 , pp. 125-130
    • Bennett, L.B.1    Roach, S.2    Bowcock, A.M.3
  • 5
    • 0036993633 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree
    • Cuenca-Leon E, Cormand B, Thomson T, et al. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. Neuropediatrics 2002; 33: 288-293.
    • (2002) Neuropediatrics , vol.33 , pp. 288-293
    • Cuenca-Leon, E.1    Cormand, B.2    Thomson, T.3
  • 6
    • 0031202066 scopus 로고    scopus 로고
    • Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
    • Liu W, Qian C, Francke U. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 1997; 16: 328-329.
    • (1997) Nat Genet , vol.16 , pp. 328-329
    • Liu, W.1    Qian, C.2    Francke, U.3
  • 7
    • 19944419749 scopus 로고    scopus 로고
    • The sequence and analysis of duplication-rich human chromosome 16
    • Martin J, Han C, Gordon LA, et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 2004; 432: 9889-9894.
    • (2004) Nature , vol.432 , pp. 9889-9894
    • Martin, J.1    Han, C.2    Gordon, L.A.3
  • 8
    • 33748664605 scopus 로고    scopus 로고
    • Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    • den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79: 556-561.
    • (2006) Am J Hum Genet , vol.79 , pp. 556-561
    • den Hollander, A.I.1    Koenekoop, R.K.2    Yzer, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.