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301 related items for PubMed ID: 15170223

  • 1. Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13.
    Buchner DA, Seburn KL, Frankel WN, Meisler MH.
    Mamm Genome; 2004 May; 15(5):344-51. PubMed ID: 15170223
    [Abstract] [Full Text] [Related]

  • 2. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
    Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.
    Hum Mol Genet; 2007 Dec 01; 16(23):2892-9. PubMed ID: 17881658
    [Abstract] [Full Text] [Related]

  • 3. The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking.
    Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH.
    J Neurosci; 2009 Mar 04; 29(9):2733-41. PubMed ID: 19261867
    [Abstract] [Full Text] [Related]

  • 4. Sodium channels and neurological disease: insights from Scn8a mutations in the mouse.
    Meisler MH, Kearney J, Escayg A, MacDonald BT, Sprunger LK.
    Neuroscientist; 2001 Apr 04; 7(2):136-45. PubMed ID: 11496924
    [Abstract] [Full Text] [Related]

  • 5. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
    Papale LA, Beyer B, Jones JM, Sharkey LM, Tufik S, Epstein M, Letts VA, Meisler MH, Frankel WN, Escayg A.
    Hum Mol Genet; 2009 May 01; 18(9):1633-41. PubMed ID: 19254928
    [Abstract] [Full Text] [Related]

  • 6. Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.
    Mackenzie FE, Parker A, Parkinson NJ, Oliver PL, Brooker D, Underhill P, Lukashkina VA, Lukashkin AN, Holmes C, Brown SD.
    Genes Brain Behav; 2009 Oct 01; 8(7):699-713. PubMed ID: 19737145
    [Abstract] [Full Text] [Related]

  • 7. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'.
    Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM, Spear B, Meisler MH.
    Nat Genet; 1995 Aug 01; 10(4):461-5. PubMed ID: 7670495
    [Abstract] [Full Text] [Related]

  • 8. Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron.
    Kohrman DC, Harris JB, Meisler MH.
    J Biol Chem; 1996 Jul 19; 271(29):17576-81. PubMed ID: 8663325
    [Abstract] [Full Text] [Related]

  • 9. Mutations of voltage-gated sodium channels in movement disorders and epilepsy.
    Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A.
    Novartis Found Symp; 2002 Jul 19; 241():72-81; discussion 82-6, 226-32. PubMed ID: 11771652
    [Abstract] [Full Text] [Related]

  • 10. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
    Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH.
    J Med Genet; 2006 Jun 19; 43(6):527-30. PubMed ID: 16236810
    [Abstract] [Full Text] [Related]

  • 11. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.
    Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, Meisler MH.
    Genomics; 1998 Dec 01; 54(2):287-96. PubMed ID: 9828131
    [Abstract] [Full Text] [Related]

  • 12. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3.
    Sprunger LK, Escayg A, Tallaksen-Greene S, Albin RL, Meisler MH.
    Hum Mol Genet; 1999 Mar 01; 8(3):471-9. PubMed ID: 9949206
    [Abstract] [Full Text] [Related]

  • 13. Ion channel mutations in mouse models of inherited neurological disease.
    Meisler MH, Sprunger LK, Plummer NW, Escayg A, Jones JM.
    Ann Med; 1997 Dec 01; 29(6):569-74. PubMed ID: 9562526
    [Abstract] [Full Text] [Related]

  • 14. Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions.
    Meisler MH, Plummer NW, Burgess DL, Buchner DA, Sprunger LK.
    Genetica; 2004 Sep 01; 122(1):37-45. PubMed ID: 15619959
    [Abstract] [Full Text] [Related]

  • 15. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).
    Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, Albin RL, Jones JM, Montal M, Stevens MJ, Sprunger LK, Meisler MH.
    Hum Mol Genet; 2002 Oct 15; 11(22):2765-75. PubMed ID: 12374766
    [Abstract] [Full Text] [Related]

  • 16. Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a.
    De Repentigny Y, Côté PD, Pool M, Bernier G, Girard S, Vidal SM, Kothary R.
    Hum Mol Genet; 2001 Aug 15; 10(17):1819-27. PubMed ID: 11532991
    [Abstract] [Full Text] [Related]

  • 17. Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6).
    Levin SI, Meisler MH.
    Genesis; 2004 Aug 15; 39(4):234-9. PubMed ID: 15286995
    [Abstract] [Full Text] [Related]

  • 18. Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.
    Ottolini M, Barker BS, Gaykema RP, Meisler MH, Patel MK.
    J Neurosci; 2017 Aug 09; 37(32):7643-7655. PubMed ID: 28676574
    [Abstract] [Full Text] [Related]

  • 19. Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory.
    Papale LA, Paul KN, Sawyer NT, Manns JR, Tufik S, Escayg A.
    J Biol Chem; 2010 May 28; 285(22):16553-61. PubMed ID: 20353942
    [Abstract] [Full Text] [Related]

  • 20. SCNM1, a putative RNA splicing factor that modifies disease severity in mice.
    Buchner DA, Trudeau M, Meisler MH.
    Science; 2003 Aug 15; 301(5635):967-9. PubMed ID: 12920299
    [Abstract] [Full Text] [Related]

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