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Journal Abstract Search

309 related items for PubMed ID: 11001811

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  • 4. 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
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  • 5. 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; 47(2):254-7. PubMed ID: 10665500
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  • 6. [Kufs' disease].
    Nagasato K.
    Ryoikibetsu Shokogun Shirizu; 2002 Feb; (37 Pt 6):258-61. PubMed ID: 12483876
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  • 10. Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.
    Suopanki J, Partanen S, Ezaki J, Baumann M, Kominami E, Tyynelä J.
    Mol Genet Metab; 2000 Feb; 71(1-2):190-4. PubMed ID: 11001810
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  • 11. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
    Barisić N, Logan P, Pikija S, Skarpa D, Blau N.
    Croat Med J; 2003 Aug; 44(4):489-93. PubMed ID: 12950156
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  • 12. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000 Aug; 21(3 Suppl):S49-56. PubMed ID: 11073228
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  • 13. The molecular genetic basis of the neuronal ceroid lipofuscinoses.
    Gardiner RM.
    Neurol Sci; 2000 Aug; 21(3 Suppl):S15-9. PubMed ID: 11073223
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  • 14. Biochemistry of neuronal ceroid lipofuscinoses.
    Junaid MA, Pullarkat RK.
    Adv Genet; 2001 Aug; 45():93-106. PubMed ID: 11332778
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  • 15. [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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  • 16. 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
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  • 20. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
    Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES.
    Vopr Med Khim; 2002 Jun 05; 48(6):594-8. PubMed ID: 12698559
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