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Journal Abstract Search

212 related items for PubMed ID: 14655761

  • 21. Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.
    Wisniewski KE, Connell F, Kaczmarski W, Kaczmarski A, Siakotos A, Becerra CR, Hofmann SL.
    Pediatr Neurol; 1998 Feb; 18(2):119-23. PubMed ID: 9535296
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  • 23. Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a ferret (Mustela putorius furo).
    Nibe K, Miwa Y, Matsunaga S, Chambers JK, Uetsuka K, Nakayama H, Uchida K.
    Vet Pathol; 2011 Nov; 48(6):1185-9. PubMed ID: 21383119
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  • 24. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.
    Hum Mol Genet; 1998 Feb; 7(2):291-7. PubMed ID: 9425237
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  • 26. 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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  • 27. Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses.
    Haltia M, Tyynelä J, Baumann M, Henseler M, Sandhoff K.
    Gerontology; 1995 Feb; 41 Suppl 2():239-48. PubMed ID: 8821335
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  • 28. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.
    Kida E, Golabek AA, Wisniewski KE.
    Adv Genet; 2001 Feb; 45():35-68. PubMed ID: 11332776
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  • 29. Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.
    Lee J, Xu Y, Saidi L, Xu M, Zinsmaier K, Ye Y.
    Autophagy; 2023 Jan; 19(1):204-223. PubMed ID: 35506243
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  • 31. Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyl-lysine.
    Katz ML, Gao CL, Tompkins JA, Bronson RT, Chin DT.
    Biochem J; 1995 Sep 15; 310 ( Pt 3)(Pt 3):887-92. PubMed ID: 7575423
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  • 39. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
    Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J.
    Brain; 2006 Jun 15; 129(Pt 6):1438-45. PubMed ID: 16670177
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  • 40. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
    Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB.
    Acta Neuropathol; 2009 Feb 15; 117(2):201-8. PubMed ID: 18762956
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