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Journal Abstract Search

124 related items for PubMed ID: 12483875

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  • 3. [Jansky-Bielschowsky disease].
    Saitoh S.
    Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):252-4. PubMed ID: 12483874
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  • 5. [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
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  • 6. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
    Mole SE.
    Brain Pathol; 2004 Jan 05; 14(1):70-6. PubMed ID: 14997939
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  • 12. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000 Jan 05; 21(3 Suppl):S49-56. PubMed ID: 11073228
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  • 13. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
    Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT.
    Genet Med; 2000 Jan 05; 2(6):312-8. PubMed ID: 11339651
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  • 14. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
    Chattopadhyay S, Pearce DA.
    Mol Genet Metab; 2000 Jan 05; 71(1-2):207-11. PubMed ID: 11001812
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  • 15. Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays.
    Sohar I, Lin L, Lobel P.
    Clin Chem; 2000 Jul 05; 46(7):1005-8. PubMed ID: 10894849
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  • 16. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
    Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY.
    Curr Mol Med; 2002 Aug 05; 2(5):423-37. PubMed ID: 12125808
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  • 17. Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.
    Ju W, Zhong R, Moore S, Moroziewicz D, Currie JR, Parfrey P, Brown WT, Zhong N.
    J Med Genet; 2002 Nov 05; 39(11):822-5. PubMed ID: 12414822
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  • 18. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.
    Zhong N.
    Mol Genet Metab; 2000 Nov 05; 71(1-2):195-206. PubMed ID: 11001811
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  • 19. Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
    Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P.
    Ann Neurol; 2000 Feb 05; 47(2):254-7. PubMed ID: 10665500
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  • 20. Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses.
    Kohan R, Noher de Halac I, Tapia Anzolini V, Cismondi A, Oller Ramírez AM, Paschini Capra A, de Kremer RD.
    Clin Biochem; 2005 May 05; 38(5):492-4. PubMed ID: 15820783
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