These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

146 related items for PubMed ID: 32920378

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

  • 22. 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 Apr; 100(1-4):213-23. PubMed ID: 14526183
    [Abstract] [Full Text] [Related]

  • 23. Unverricht-Lundborg disease with cystatin B gene abnormalities.
    Kagitani-Shimono K, Imai K, Okamoto N, Ono J, Okada S.
    Pediatr Neurol; 2002 Jan; 26(1):55-60. PubMed ID: 11814737
    [Abstract] [Full Text] [Related]

  • 24. Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
    Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O.
    Epilepsy Res; 2012 Mar; 99(1-2):187-90. PubMed ID: 22154554
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1).
    Danner N, Julkunen P, Könönen M, Hyppönen J, Koskenkorva P, Vanninen R, Lehesjoki AE, Kälviäinen R, Mervaala E.
    Seizure; 2011 Jan 16; 20(1):65-71. PubMed ID: 21075014
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. 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 25; 11(6):e0158195. PubMed ID: 27355630
    [Abstract] [Full Text] [Related]

  • 29. Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
    de Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D.
    Epilepsia; 2004 Sep 25; 45(9):1061-3. PubMed ID: 15329070
    [Abstract] [Full Text] [Related]

  • 30.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lehesjoki AE, Kälviäinen R.
    ; 1993 Sep 25. PubMed ID: 20301321
    [Abstract] [Full Text] [Related]

  • 31. Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy.
    Horiuchi H, Osawa M, Furutani R, Morita M, Tian W, Awatsu Y, Shimazaki H, Umetsu K.
    Genet Test; 2005 Sep 25; 9(4):328-33. PubMed ID: 16379547
    [Abstract] [Full Text] [Related]

  • 32. [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]

  • 33. [Unverricht-Lundborg disease (PME1)].
    Genton P.
    Rev Neurol (Paris); 2006 Sep 04; 162(8-9):819-26. PubMed ID: 17028542
    [Abstract] [Full Text] [Related]

  • 34. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
    Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH.
    Brain; 2005 Mar 04; 128(Pt 3):652-8. PubMed ID: 15634728
    [Abstract] [Full Text] [Related]

  • 35. Progressive myoclonus epilepsy of Unverricht-Lundborg type.
    Lehesjoki AE, Koskiniemi M.
    Epilepsia; 1999 Mar 04; 40 Suppl 3():23-8. PubMed ID: 10446747
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
    Mumoli L, Tarantino P, Michelucci R, Bianchi A, Labate A, Franceschetti S, Marini C, Striano P, Gagliardi M, Ferlazzo E, Sofia V, Pennese L, Annesi G, Aguglia U, Guerrini R, Zara F, Gambardella A, Genetic Commission, Italian League Against Epilepsy.
    Epilepsia; 2015 Apr 04; 56(4):e40-3. PubMed ID: 25752200
    [Abstract] [Full Text] [Related]

  • 38. Cognitive functioning in progressive myoclonus epilepsy type 1 (Unverricht-Lundborg Disease, EPM1).
    Äikiä M, Hyppönen J, Mervaala E, Kälviäinen R.
    Epilepsy Behav; 2021 Sep 04; 122():108157. PubMed ID: 34171687
    [Abstract] [Full Text] [Related]

  • 39.
    Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, Lehesjoki AE, Gardiner M.
    ; 2012 Sep 04. PubMed ID: 22787658
    [Abstract] [Full Text] [Related]

  • 40. 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 04; 73():103248. PubMed ID: 37951142
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 8.