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183 related items for PubMed ID: 28377970

  • 1. 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; 3():76-82. PubMed ID: 28377970
    [Abstract] [Full Text] [Related]

  • 2. Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.
    Suoranta S, Manninen H, Koskenkorva P, Könönen M, Laitinen R, Lehesjoki AE, Kälviäinen R, Vanninen R.
    Bone; 2012 Dec; 51(6):1016-24. PubMed ID: 23010349
    [Abstract] [Full Text] [Related]

  • 3. Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy.
    Rinne R, Saukko P, Järvinen M, Lehesjoki AE.
    Ann Med; 2002 Dec; 34(5):380-5. PubMed ID: 12452481
    [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; 63(3):400-11. PubMed ID: 25327891
    [Abstract] [Full Text] [Related]

  • 5. 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; 13(2):208-15. PubMed ID: 15483648
    [Abstract] [Full Text] [Related]

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

  • 7. 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 Apr; 9(6):e90709. PubMed ID: 24603771
    [Abstract] [Full Text] [Related]

  • 8. 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 Apr; 11(6):e0158195. PubMed ID: 27355630
    [Abstract] [Full Text] [Related]

  • 9. Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.
    Gorski K, Spoljaric A, Nyman TA, Kaila K, Battersby BJ, Lehesjoki AE.
    Front Mol Neurosci; 2020 Apr; 13():570640. PubMed ID: 33281550
    [Abstract] [Full Text] [Related]

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  • 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; 15(2):185-93. PubMed ID: 17003839
    [Abstract] [Full Text] [Related]

  • 12. Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1).
    Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM.
    J Neurobiol; 2003 Sep 15; 56(4):315-27. PubMed ID: 12918016
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. 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 Jan 16; 17():1325051. PubMed ID: 38179183
    [Abstract] [Full Text] [Related]

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  • 17. 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]

  • 18. Clinical picture of EPM1-Unverricht-Lundborg disease.
    Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E.
    Epilepsia; 2008 Apr 16; 49(4):549-56. PubMed ID: 18325013
    [Abstract] [Full Text] [Related]

  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lehesjoki AE, Kälviäinen R.
    ; 1993 Apr 16. PubMed ID: 20301321
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  • 20.
    Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, Lehesjoki AE, Gardiner M.
    ; 2012 Apr 16. PubMed ID: 22787658
    [Abstract] [Full Text] [Related]

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