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251 related items for PubMed ID: 32378798

  • 1. Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
    Di Matteo F, Pipicelli F, Kyrousi C, Tovecci I, Penna E, Crispino M, Chambery A, Russo R, Ayo-Martin AC, Giordano M, Hoffmann A, Ciusani E, Canafoglia L, Götz M, Di Giaimo R, Cappello S.
    EMBO Mol Med; 2020 Jun 08; 12(6):e11419. PubMed ID: 32378798
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Molecular background of EPM1-Unverricht-Lundborg disease.
    Joensuu T, Lehesjoki AE, Kopra O.
    Epilepsia; 2008 Apr 16; 49(4):557-63. PubMed ID: 18028412
    [Abstract] [Full Text] [Related]

  • 4. 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 16; 63(3):400-11. PubMed ID: 25327891
    [Abstract] [Full Text] [Related]

  • 5. Pathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids.
    Pizzella A, Penna E, Abate N, Frenna E, Canafoglia L, Ragona F, Russo R, Chambery A, Perrone-Capano C, Cappello S, Crispino M, Di Giaimo R.
    Mol Neurobiol; 2024 Jul 16; 61(7):4318-4334. PubMed ID: 38087165
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 Feb 16; 11(6):e0158195. PubMed ID: 27355630
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.
    Lucchino V, Scaramuzzino L, Scalise S, Lo Conte M, Zannino C, Benedetto GL, Aguglia U, Ferlazzo E, Cuda G, Parrotta EI.
    Cells; 2022 Nov 04; 11(21):. PubMed ID: 36359887
    [Abstract] [Full Text] [Related]

  • 10. 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 04; 71(1):40-53. PubMed ID: 22157618
    [Abstract] [Full Text] [Related]

  • 11. 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 Jan 04; 9(6):e90709. PubMed ID: 24603771
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.
    Manninen O, Koskenkorva P, Lehtimäki KK, Hyppönen J, Könönen M, Laitinen T, Kalimo H, Kopra O, Kälviäinen R, Gröhn O, Lehesjoki AE, Vanninen R.
    Radiology; 2013 Oct 04; 269(1):232-9. PubMed ID: 23788720
    [Abstract] [Full Text] [Related]

  • 14. Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy.
    Rinne R, Saukko P, Järvinen M, Lehesjoki AE.
    Ann Med; 2002 Oct 04; 34(5):380-5. PubMed ID: 12452481
    [Abstract] [Full Text] [Related]

  • 15. Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.
    Hyppönen J, Äikiä M, Joensuu T, Julkunen P, Danner N, Koskenkorva P, Vanninen R, Lehesjoki AE, Mervaala E, Kälviäinen R.
    Neurology; 2015 Apr 14; 84(15):1529-36. PubMed ID: 25770194
    [Abstract] [Full Text] [Related]

  • 16. Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).
    Singh S, Plotnikova L, Karvonen K, Ryytty S, Hyppönen J, Kälviäinen R, Hämäläinen RH.
    Stem Cell Res; 2023 Dec 14; 73():103248. PubMed ID: 37951142
    [Abstract] [Full Text] [Related]

  • 17. Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
    Koskenkorva P, Hyppönen J, Aikiä M, Mervaala E, Kiviranta T, Eriksson K, Lehesjoki AE, Vanninen R, Kälviäinen R.
    Neurodegener Dis; 2011 Dec 14; 8(6):515-22. PubMed ID: 21757863
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 28; 47(10):1650-4. PubMed ID: 17054687
    [Abstract] [Full Text] [Related]

  • 20. Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.
    Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW.
    Epileptic Disord; 2023 Jun 28; 25(3):297-308. PubMed ID: 37536959
    [Abstract] [Full Text] [Related]

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