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246 related items for PubMed ID: 12796825

  • 1. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
    Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG.
    J Neurol; 2003 Jun; 250(6):661-7. PubMed ID: 12796825
    [Abstract] [Full Text] [Related]

  • 2. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
    Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT.
    Genet Med; 2000 Jun; 2(6):312-8. PubMed ID: 11339651
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  • 3. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000 Jun; 21(3 Suppl):S49-56. PubMed ID: 11073228
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  • 4. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
    Taschner PE, Losekoot M, Breuning MH, Hofman I, van Diggelen OP.
    Ned Tijdschr Geneeskd; 2005 Feb 05; 149(6):300-3. PubMed ID: 15730038
    [Abstract] [Full Text] [Related]

  • 5. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.
    Muller VJ, Paton BC, Fietz MJ.
    Eur J Paediatr Neurol; 2001 Feb 05; 5 Suppl A():197-201. PubMed ID: 11588997
    [Abstract] [Full Text] [Related]

  • 6. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.
    Sohar I, Sleat DE, Jadot M, Lobel P.
    J Neurochem; 1999 Aug 05; 73(2):700-11. PubMed ID: 10428067
    [Abstract] [Full Text] [Related]

  • 7. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
    Bessa C, Teixeira CA, Mangas M, Dias A, Sá Miranda MC, Guimarães A, Ferreira JC, Canas N, Cabral P, Ribeiro MG.
    Mol Genet Metab; 2006 Nov 05; 89(3):245-53. PubMed ID: 16814585
    [Abstract] [Full Text] [Related]

  • 8. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS.
    Clin Genet; 2008 Sep 05; 74(3):213-22. PubMed ID: 18684116
    [Abstract] [Full Text] [Related]

  • 9. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
    Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X, Zheng W.
    Orphanet J Rare Dis; 2018 Apr 10; 13(1):54. PubMed ID: 29631617
    [Abstract] [Full Text] [Related]

  • 10. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
    Mole SE.
    Brain Pathol; 2004 Jan 10; 14(1):70-6. PubMed ID: 14997939
    [Abstract] [Full Text] [Related]

  • 11. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
    Getty AL, Pearce DA.
    Cell Mol Life Sci; 2011 Feb 10; 68(3):453-74. PubMed ID: 20680390
    [Abstract] [Full Text] [Related]

  • 12. Human pathology in NCL.
    Anderson GW, Goebel HH, Simonati A.
    Biochim Biophys Acta; 2013 Nov 10; 1832(11):1807-26. PubMed ID: 23200925
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  • 17. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.
    Wiśniewski KE, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, Brooks SS, Brown WT.
    Folia Neuropathol; 1997 Nov 10; 35(2):73-9. PubMed ID: 9377079
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  • 18.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mole SE, Williams RE.
    ; 1993 Nov 10. PubMed ID: 20301601
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