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Journal Abstract Search

159 related items for PubMed ID: 10636137

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree.
    Cuenca-Leon E, Cormand B, Thomson T, Macaya A.
    Neuropediatrics; 2002 Dec; 33(6):288-93. PubMed ID: 12571782
    [Abstract] [Full Text] [Related]

  • 3. 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; 65(6):1688-97. PubMed ID: 10577923
    [Abstract] [Full Text] [Related]

  • 4.
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  • 5. 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, Bhatia KP, Dixon PH, Wood NW, Davis MB.
    Brain; 2000 Oct; 123 ( Pt 10)():2040-5. PubMed ID: 11004121
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. [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
    [Abstract] [Full Text] [Related]

  • 8. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
    Spacey SD, Valente EM, Wali GM, Warner TT, Jarman PR, Schapira AH, Dixon PH, Davis MB, Bhatia KP, Wood NW.
    Mov Disord; 2002 Jul 01; 17(4):717-25. PubMed ID: 12210861
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.
    Liu D, Zhang Y, Wang Y, Chen C, Li X, Zhou J, Song Z, Xiao B, Rasco K, Zhang F, Wen S, Li G.
    Sci Rep; 2016 May 13; 6():25790. PubMed ID: 27173777
    [Abstract] [Full Text] [Related]

  • 11. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.
    Demir E, Prud'homme JF, Topçu M.
    Pediatr Neurol; 2004 May 13; 30(5):349-53. PubMed ID: 15165638
    [Abstract] [Full Text] [Related]

  • 12. Idiopathic epilepsy and paroxysmal dyskinesia.
    Guerrini R.
    Epilepsia; 2001 May 13; 42 Suppl 3():36-41. PubMed ID: 11520321
    [Abstract] [Full Text] [Related]

  • 13. Mutation analysis of the sodium/hydrogen exchanger gene (NHE5) in familial paroxysmal kinesigenic dyskinesia.
    Spacey SD, Szczygielski BI, McRory JE, Wali GM, Wood NW, Snutch TP.
    J Neural Transm (Vienna); 2002 Sep 13; 109(9):1189-94. PubMed ID: 12203045
    [Abstract] [Full Text] [Related]

  • 14. Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: a new subtype?
    Zhou J, Li G, Chen C, Liu D, Xiao B.
    Epilepsy Res; 2008 Aug 13; 80(2-3):171-9. PubMed ID: 18541410
    [Abstract] [Full Text] [Related]

  • 15. Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.
    Wang JL, Mao X, Hu ZM, Li JD, Li N, Guo JF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tang BS.
    Neurosci Lett; 2013 Sep 27; 552():40-5. PubMed ID: 23896529
    [Abstract] [Full Text] [Related]

  • 16. Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
    Weber A, Köhler A, Hahn A, Neubauer B, Müller U.
    Neurogenetics; 2013 Nov 27; 14(3-4):251-3. PubMed ID: 24100940
    [Abstract] [Full Text] [Related]

  • 17. Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
    Guerrini R, Parmeggiani L, Bonanni P, Carrozzo R, Casari G.
    Neurology; 2000 Sep 12; 55(5):738-9. PubMed ID: 10980756
    [No Abstract] [Full Text] [Related]

  • 18.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Spacey S, Adams P.
    ; 1993 Sep 12. PubMed ID: 20301633
    [Abstract] [Full Text] [Related]

  • 19. 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 12; 34(2):101-7. PubMed ID: 17952630
    [Abstract] [Full Text] [Related]

  • 20. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
    Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP.
    Am J Hum Genet; 1997 Oct 12; 61(4):889-98. PubMed ID: 9382100
    [Abstract] [Full Text] [Related]

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