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Journal Abstract Search

152 related items for PubMed ID: 20158512

  • 1. Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families.
    Wang X, Sun W, Zhu X, Li L, Du T, Mao W, Wu X, Wei H, Zhu S, Sun Y, Liu Y, Niu N, Wang Y, Liu Y.
    Eur J Neurol; 2010 Jun 01; 17(6):800-7. PubMed ID: 20158512
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  • 2. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
    Tomita Ha, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N.
    Am J Hum Genet; 1999 Dec 01; 65(6):1688-97. PubMed ID: 10577923
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  • 3. Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.
    Du T, Feng B, Wang X, Mao W, Zhu X, Li L, Sun B, Niu N, Liu Y, Wang Y, Chen B, Cai X, Liu Y.
    J Mol Neurosci; 2008 Feb 01; 34(2):101-7. PubMed ID: 17952630
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  • 6. 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, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura KI, Niikawa N.
    J Hum Genet; 2007 Feb 01; 52(4):334-341. PubMed ID: 17387577
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  • 7. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.
    Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P.
    Hum Genet; 1998 Nov 01; 103(5):608-12. PubMed ID: 9860304
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  • 8. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.
    Demir E, Prud'homme JF, Topçu M.
    Pediatr Neurol; 2004 May 01; 30(5):349-53. PubMed ID: 15165638
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  • 10. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
    Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS.
    Brain; 2011 Dec 01; 134(Pt 12):3493-3501. PubMed ID: 22120146
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  • 12. Idiopathic epilepsy and paroxysmal dyskinesia.
    Guerrini R.
    Epilepsia; 2001 Dec 01; 42 Suppl 3():36-41. PubMed ID: 11520321
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  • 16. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
    Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P.
    Epileptic Disord; 2010 Sep 01; 12(3):199-204. PubMed ID: 20716510
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  • 18. [Fine mapping of a pure paroxysmal kinesigenic dyskinesia family].
    Liu D, Li GL, Chen CJ, Zhou JX, Zhang B, Wu ZG, Xiao B.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb 01; 26(1):1-5. PubMed ID: 19199241
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  • 19. Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family.
    Yuan Y, Zhou X, Wang F, Yan M, Ding F.
    Curr Eye Res; 2011 Feb 01; 36(2):154-67. PubMed ID: 21281067
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  • 20. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
    Li J, Zhu X, Wang X, Sun W, Feng B, Du T, Sun B, Niu F, Wei H, Wu X, Dong L, Li L, Cai X, Wang Y, Liu Y.
    J Med Genet; 2012 Feb 01; 49(2):76-8. PubMed ID: 22131361
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