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212 related items for PubMed ID: 11588997

  • 1. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.
    Muller VJ, Paton BC, Fietz MJ.
    Eur J Paediatr Neurol; 2001; 5 Suppl A():197-201. PubMed ID: 11588997
    [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; 2(6):312-8. PubMed ID: 11339651
    [Abstract] [Full Text] [Related]

  • 3. [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]

  • 4. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000 Feb 05; 21(3 Suppl):S49-56. PubMed ID: 11073228
    [Abstract] [Full Text] [Related]

  • 5. 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 05; 250(6):661-7. PubMed ID: 12796825
    [Abstract] [Full Text] [Related]

  • 6. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE, Mitchison HM, Munroe PB.
    Hum Mutat; 1999 Jun 05; 14(3):199-215. PubMed ID: 10477428
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. The molecular genetic basis of the neuronal ceroid lipofuscinoses.
    Gardiner RM.
    Neurol Sci; 2000 Aug 05; 21(3 Suppl):S15-9. PubMed ID: 11073223
    [Abstract] [Full Text] [Related]

  • 9. 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 Aug 05; 5 Suppl A():193-6. PubMed ID: 11588996
    [Abstract] [Full Text] [Related]

  • 10. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.
    Zhong N.
    Mol Genet Metab; 2000 Aug 05; 71(1-2):195-206. PubMed ID: 11001811
    [Abstract] [Full Text] [Related]

  • 11. 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 Aug 05; 71(1-2):207-11. PubMed ID: 11001812
    [Abstract] [Full Text] [Related]

  • 12. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.
    Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG.
    J Neurosci Methods; 2006 Oct 15; 157(1):124-31. PubMed ID: 16720047
    [Abstract] [Full Text] [Related]

  • 13. Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).
    Van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV.
    Eur J Paediatr Neurol; 2001 Oct 15; 5 Suppl A():189-92. PubMed ID: 11588995
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 67(2):162-8. PubMed ID: 10356316
    [Abstract] [Full Text] [Related]

  • 15. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
    Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P.
    Am J Hum Genet; 1999 Jun 15; 64(6):1511-23. PubMed ID: 10330339
    [Abstract] [Full Text] [Related]

  • 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 15; 2(5):423-37. PubMed ID: 12125808
    [Abstract] [Full Text] [Related]

  • 17. Searching for interacting partners of CLN1, CLN2 and Btn1p with the two-hybrid system.
    Cottone CD, Chattopadhyay S, Pearce DA.
    Eur J Paediatr Neurol; 2001 Aug 15; 5 Suppl A():95-8. PubMed ID: 11589016
    [Abstract] [Full Text] [Related]

  • 18. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
    Mole SE.
    Brain Pathol; 2004 Jan 15; 14(1):70-6. PubMed ID: 14997939
    [Abstract] [Full Text] [Related]

  • 19. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis.
    Katz ML, Johnson GS.
    Eur J Paediatr Neurol; 2001 Jan 15; 5 Suppl A():109-14. PubMed ID: 11588979
    [Abstract] [Full Text] [Related]

  • 20. Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
    Wisniewski KE, Kida E, Walus M, Wujek P, Kaczmarski W, Golabek AA.
    Eur J Paediatr Neurol; 2001 Jan 15; 5 Suppl A():73-9. PubMed ID: 11589013
    [Abstract] [Full Text] [Related]

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