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Journal Abstract Search

185 related items for PubMed ID: 11004121

  • 1. 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]

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

  • 3. 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]

  • 4. 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]

  • 5. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions.
    Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y.
    Epilepsy Res; 2006 Aug 01; 70 Suppl 1():S174-84. PubMed ID: 16901678
    [Abstract] [Full Text] [Related]

  • 6. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
    Bennett LB, Roach ES, Bowcock AM.
    Neurology; 2000 Jan 11; 54(1):125-30. PubMed ID: 10636137
    [Abstract] [Full Text] [Related]

  • 7. 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 11; 61(4):889-98. PubMed ID: 9382100
    [Abstract] [Full Text] [Related]

  • 8. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
    Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ.
    Neurology; 2000 Jul 25; 55(2):224-30. PubMed ID: 10908896
    [Abstract] [Full Text] [Related]

  • 9. 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 Jul 25; 52(4):334-341. PubMed ID: 17387577
    [Abstract] [Full Text] [Related]

  • 10. 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 25; 34(2):101-7. PubMed ID: 17952630
    [Abstract] [Full Text] [Related]

  • 11. Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.
    Raskind WH, Bolin T, Wolff J, Fink J, Matsushita M, Litt M, Lipe H, Bird TD.
    Hum Genet; 1998 Jan 25; 102(1):93-7. PubMed ID: 9490305
    [Abstract] [Full Text] [Related]

  • 12. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.
    Demir E, Prud'homme JF, Topçu M.
    Pediatr Neurol; 2004 May 25; 30(5):349-53. PubMed ID: 15165638
    [Abstract] [Full Text] [Related]

  • 13. Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family.
    Jarman PR, Davis MB, Hodgson SV, Marsden CD, Wood NW.
    Brain; 1997 Dec 25; 120 ( Pt 12)():2125-30. PubMed ID: 9448567
    [Abstract] [Full Text] [Related]

  • 14. Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis.
    Hofele K, Benecke R, Auburger G.
    Neurology; 1997 Nov 25; 49(5):1252-7. PubMed ID: 9371903
    [Abstract] [Full Text] [Related]

  • 15. Idiopathic epilepsy and paroxysmal dyskinesia.
    Guerrini R.
    Epilepsia; 2001 Nov 25; 42 Suppl 3():36-41. PubMed ID: 11520321
    [Abstract] [Full Text] [Related]

  • 16. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.
    Matsuo H, Kamakura K, Saito M, Okano M, Nagase T, Tadano Y, Kaida K, Hirata A, Miyamoto N, Masaki T, Nakamura R, Motoyoshi K, Tanaka H, Tsuji S.
    Arch Neurol; 1999 Jun 25; 56(6):721-6. PubMed ID: 10369313
    [Abstract] [Full Text] [Related]

  • 17. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.
    Fink JK, Rainer S, Wilkowski J, Jones SM, Kume A, Hedera P, Albin R, Mathay J, Girbach L, Varvil T, Otterud B, Leppert M.
    Am J Hum Genet; 1996 Jul 25; 59(1):140-5. PubMed ID: 8659518
    [Abstract] [Full Text] [Related]

  • 18. [A Japanese family with paroxysmal dystonic choreoathetosis].
    Matsuo H, Okano M, Kaida K, Tadano Y, Kamakura K.
    Rinsho Shinkeigaku; 1997 Oct 25; 37(10):905-9. PubMed ID: 9490902
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 12(3):199-204. PubMed ID: 20716510
    [Abstract] [Full Text] [Related]

  • 20. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
    Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P.
    Am J Hum Genet; 2001 Mar 25; 68(3):788-94. PubMed ID: 11179027
    [Abstract] [Full Text] [Related]

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