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211 related items for PubMed ID: 27894304

  • 1. Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy.
    Okuneva O, Li Z, Körber I, Tegelberg S, Joensuu T, Tian L, Lehesjoki AE.
    J Neuroinflammation; 2016 Nov 28; 13(1):298. PubMed ID: 27894304
    [Abstract] [Full Text] [Related]

  • 2. Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.
    Okuneva O, Körber I, Li Z, Tian L, Joensuu T, Kopra O, Lehesjoki AE.
    Glia; 2015 Mar 28; 63(3):400-11. PubMed ID: 25327891
    [Abstract] [Full Text] [Related]

  • 3. Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.
    Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M, Hakala P, Pehkonen H, Korpi ER, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki AE.
    PLoS One; 2014 Mar 28; 9(2):e89321. PubMed ID: 24586687
    [Abstract] [Full Text] [Related]

  • 4. Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.
    Tegelberg S, Kopra O, Joensuu T, Cooper JD, Lehesjoki AE.
    J Neuropathol Exp Neurol; 2012 Jan 28; 71(1):40-53. PubMed ID: 22157618
    [Abstract] [Full Text] [Related]

  • 5. Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.
    Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki AE, Joensuu T.
    PLoS One; 2016 Jan 28; 11(6):e0158195. PubMed ID: 27355630
    [Abstract] [Full Text] [Related]

  • 6. The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
    Singh S, Hämäläinen RH.
    Cells; 2024 Jan 16; 13(2):. PubMed ID: 38247861
    [Abstract] [Full Text] [Related]

  • 7. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
    Lalioti MD, Antonarakis SE, Scott HS.
    Cytogenet Genome Res; 2003 Jan 16; 100(1-4):213-23. PubMed ID: 14526183
    [Abstract] [Full Text] [Related]

  • 8. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
    Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE.
    Eur J Hum Genet; 2005 Feb 16; 13(2):208-15. PubMed ID: 15483648
    [Abstract] [Full Text] [Related]

  • 9. Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy.
    Vaarmann A, Kaasik A, Zharkovsky A.
    Epilepsia; 2006 Oct 16; 47(10):1650-4. PubMed ID: 17054687
    [Abstract] [Full Text] [Related]

  • 10. CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.
    Gumusgoz E, Kasiri S, Verma M, Wu J, Villarreal Acha D, Marriam U, Fyffe-Maricich S, Lin A, Chen X, Gray SJ, Minassian BA.
    Gene Ther; 2024 May 16; 31(5-6):234-241. PubMed ID: 38135787
    [Abstract] [Full Text] [Related]

  • 11. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
    Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.
    Eur J Hum Genet; 2007 Feb 16; 15(2):185-93. PubMed ID: 17003839
    [Abstract] [Full Text] [Related]

  • 12. [From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene].
    de Haan GJ, Halley DJ, Deelen WH, Lindhout D.
    Ned Tijdschr Geneeskd; 2002 May 04; 146(18):846-8. PubMed ID: 12038222
    [Abstract] [Full Text] [Related]

  • 13. Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy.
    Manninen O, Puolakkainen T, Lehto J, Harittu E, Kallonen A, Peura M, Laitala-Leinonen T, Kopra O, Kiviranta R, Lehesjoki AE.
    Bone Rep; 2015 Dec 04; 3():76-82. PubMed ID: 28377970
    [Abstract] [Full Text] [Related]

  • 14. Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.
    Manninen O, Laitinen T, Lehtimäki KK, Tegelberg S, Lehesjoki AE, Gröhn O, Kopra O.
    PLoS One; 2014 Dec 04; 9(6):e90709. PubMed ID: 24603771
    [Abstract] [Full Text] [Related]

  • 15. Microglial phagocytosis dysfunction in the dentate gyrus is related to local neuronal activity in a genetic model of epilepsy.
    Sierra-Torre V, Plaza-Zabala A, Bonifazi P, Abiega O, Díaz-Aparicio I, Tegelberg S, Lehesjoki AE, Valero J, Sierra A.
    Epilepsia; 2020 Nov 04; 61(11):2593-2608. PubMed ID: 32940364
    [Abstract] [Full Text] [Related]

  • 16. Unverricht-Lundborg disease.
    Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kälviäinen R, Korja M, Lehtinen MK, Mervaala E, Simonato M, Vaarmann A.
    Epileptic Disord; 2016 Sep 01; 18(S2):28-37. PubMed ID: 27582036
    [Abstract] [Full Text] [Related]

  • 17. Molecular background of EPM1-Unverricht-Lundborg disease.
    Joensuu T, Lehesjoki AE, Kopra O.
    Epilepsia; 2008 Apr 01; 49(4):557-63. PubMed ID: 18028412
    [Abstract] [Full Text] [Related]

  • 18. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.
    Lalioti MD, Scott HS, Antonarakis SE.
    Hum Mol Genet; 1999 Sep 01; 8(9):1791-8. PubMed ID: 10441345
    [Abstract] [Full Text] [Related]

  • 19. In depth behavioral phenotyping unravels complex motor disturbances in Cstb-/- mouse, a model for progressive myoclonus epilepsy type 1.
    Pollari E, Tegelberg S, Björklund H, Kälviäinen R, Lehesjoki AE, Haapalinna A.
    Front Behav Neurosci; 2023 Sep 01; 17():1325051. PubMed ID: 38179183
    [Abstract] [Full Text] [Related]

  • 20. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
    Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE.
    Gene; 2000 Jan 25; 242(1-2):65-73. PubMed ID: 10721698
    [Abstract] [Full Text] [Related]

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