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Journal Abstract Search

160 related items for PubMed ID: 11241479

  • 1. Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
    Lam CW, Poon PM, Tong SF, Ko CH.
    Am J Med Genet; 2001 Mar 01; 99(2):161-3. PubMed ID: 11241479
    [No Abstract] [Full Text] [Related]

  • 2. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
    Wang YL, Zeng ZY, Song XW, Hao ZF, Shi YW, Tang B, Chen SQ, Gao MM, Di W, Long YS, Yi YH, Liao WP.
    Neurogenetics; 2011 Feb 01; 12(1):93-5. PubMed ID: 20820830
    [No Abstract] [Full Text] [Related]

  • 3. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
    Hartikainen JM, Ju W, Wisniewski KE, Moroziewicz DN, Kaczmarski AL, McLendon L, Zhong D, Suarez CT, Brown WT, Zhong N.
    Mol Genet Metab; 1999 Jun 01; 67(2):162-8. PubMed ID: 10356316
    [Abstract] [Full Text] [Related]

  • 4. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis.
    Rawlings ND, Barrett AJ.
    Biochim Biophys Acta; 1999 Jan 11; 1429(2):496-500. PubMed ID: 9989235
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  • 5. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
    Steinfeld R, Steinke HB, Isbrandt D, Kohlschütter A, Gärtner J.
    Hum Mol Genet; 2004 Oct 15; 13(20):2483-91. PubMed ID: 15317752
    [Abstract] [Full Text] [Related]

  • 6. Case 27-2002: late-onset infantile neuronal ceroid lipofuscinosis.
    McBride KL.
    N Engl J Med; 2003 May 22; 348(21):2159. PubMed ID: 12761381
    [No Abstract] [Full Text] [Related]

  • 7. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
    Yu F, Liu XM, Chen YH, Zhang SQ, Wang K.
    Neurol Sci; 2015 Oct 22; 36(10):1917-9. PubMed ID: 26032578
    [No Abstract] [Full Text] [Related]

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  • 13. A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.
    Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM.
    Hum Mutat; 2000 Jun 22; 15(6):577. PubMed ID: 10862088
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  • 14. Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2.
    Katz ML, Liu PC, Grob-Nunn SE, Shibuya H, Johnson GS.
    Mamm Genome; 1999 Nov 22; 10(11):1050-3. PubMed ID: 10556422
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  • 16. Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities.
    Young EP, Worthington VC, Jackson M, Winchester BG.
    Eur J Paediatr Neurol; 2001 Nov 22; 5 Suppl A():193-6. PubMed ID: 11588996
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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 22; 39(11):822-5. PubMed ID: 12414822
    [No Abstract] [Full Text] [Related]

  • 18. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
    Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P.
    Science; 1997 Sep 19; 277(5333):1802-5. PubMed ID: 9295267
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