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212 related items for PubMed ID: 22787658

  • 1.
    Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, Lehesjoki AE, Gardiner M.
    ; 2012. PubMed ID: 22787658
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mole SE, Williams RE.
    ; 1993. PubMed ID: 20301601
    [Abstract] [Full Text] [Related]

  • 3. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
    Kousi M, Lehesjoki AE, Mole SE.
    Hum Mutat; 2012 Jan; 33(1):42-63. PubMed ID: 21990111
    [Abstract] [Full Text] [Related]

  • 4. Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
    Mole SE, Cotman SL.
    Biochim Biophys Acta; 2015 Oct; 1852(10 Pt B):2237-41. PubMed ID: 26026925
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. Cell biology of the NCL proteins: What they do and don't do.
    Cárcel-Trullols J, Kovács AD, Pearce DA.
    Biochim Biophys Acta; 2015 Oct; 1852(10 Pt B):2242-55. PubMed ID: 25962910
    [Abstract] [Full Text] [Related]

  • 8. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
    Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.
    Curr Pharm Biotechnol; 2011 Jun; 12(6):867-83. PubMed ID: 21235444
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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]

  • 12. 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]

  • 13. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
    Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.
    Brain; 2009 Mar 01; 132(Pt 3):810-9. PubMed ID: 19201763
    [Abstract] [Full Text] [Related]

  • 14. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.
    Weimer JM, Kriscenski-Perry E, Elshatory Y, Pearce DA.
    Neuromolecular Med; 2002 Mar 01; 1(2):111-24. PubMed ID: 12025857
    [Abstract] [Full Text] [Related]

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  • 17.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lehesjoki AE, Kälviäinen R.
    ; 1993 Mar 01. PubMed ID: 20301321
    [Abstract] [Full Text] [Related]

  • 18. New mutations in the neuronal ceroid lipofuscinosis genes.
    Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE.
    Eur J Paediatr Neurol; 2001 Mar 01; 5 Suppl A():7-10. PubMed ID: 11589012
    [Abstract] [Full Text] [Related]

  • 19. Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.
    Biswas A, Krishnan P, Amirabadi A, Blaser S, Mercimek-Andrews S, Shroff M.
    AJNR Am J Neuroradiol; 2020 Oct 01; 41(10):1930-1936. PubMed ID: 32855186
    [Abstract] [Full Text] [Related]

  • 20. Analysis of NCL Proteins from an Evolutionary Standpoint.
    Muzaffar NE, Pearce DA.
    Curr Genomics; 2008 Apr 01; 9(2):115-36. PubMed ID: 19440452
    [Abstract] [Full Text] [Related]

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