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Journal Abstract Search

220 related items for PubMed ID: 16415965

  • 21.
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  • 22. 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
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  • 25. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE, Mitchison HM, Munroe PB.
    Hum Mutat; 1999; 14(3):199-215. PubMed ID: 10477428
    [Abstract] [Full Text] [Related]

  • 26. 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
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  • 28. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE.
    Neuropediatrics; 1997 Feb 15; 28(1):21-2. PubMed ID: 9151314
    [Abstract] [Full Text] [Related]

  • 29. Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.
    Kohan R, Muller VJ, Fietz MJ, Cismondi AI, Oller Ramírez AM, Halac IN.
    Hum Genet; 2008 Jun 15; 123(5):553. PubMed ID: 20960655
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  • 30. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.
    Zhong N.
    Mol Genet Metab; 2000 Jun 15; 71(1-2):195-206. PubMed ID: 11001811
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  • 33. Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
    Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G.
    J Neurol Sci; 2015 Sep 15; 356(1-2):65-71. PubMed ID: 26143525
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  • 34.
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  • 35. 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 15; 7(2):291-7. PubMed ID: 9425237
    [Abstract] [Full Text] [Related]

  • 36. Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
    Munesue Y, Ageyama N, Kimura N, Takahashi I, Nakayama S, Okabayashi S, Katakai Y, Koie H, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N.
    Exp Neurol; 2023 May 15; 363():114381. PubMed ID: 36918063
    [Abstract] [Full Text] [Related]

  • 37. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
    Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sánchez VC, González MJ, Puñal JE, Pérez AV, González MM, Bermejo AM, Hernández EM, Rosell MJ, Gort L, Milá M.
    J Child Neurol; 2013 Apr 15; 28(4):470-8. PubMed ID: 22832778
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  • 38.
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  • 39. The neuronal ceroid-lipofuscinoses.
    Bennett MJ, Rakheja D.
    Dev Disabil Res Rev; 2013 Apr 15; 17(3):254-9. PubMed ID: 23798013
    [Abstract] [Full Text] [Related]

  • 40. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
    Miller JN, Chan CH, Pearce DA.
    Hum Mol Genet; 2013 Jul 01; 22(13):2723-34. PubMed ID: 23539563
    [Abstract] [Full Text] [Related]

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