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Journal Abstract Search

1062 related items for PubMed ID: 15032383

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  • 5. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
    Chen FK, Zhang X, Eintracht J, Zhang D, Arunachalam S, Thompson JA, Chelva E, Mallon D, Chen SC, McLaren T, Lamey T, De Roach J, McLenachan S.
    Doc Ophthalmol; 2019 Feb; 138(1):55-70. PubMed ID: 30446867
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  • 6. The neuronal ceroid-lipofuscinoses.
    Goebel HH.
    J Child Neurol; 1995 Nov; 10(6):424-37. PubMed ID: 8576551
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  • 7. Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
    Purzycka-Olewiecka JK, Hetmańczyk-Sawicka K, Kmieć T, Szczęśniak D, Trubicka J, Krawczyński M, Pronicki M, Ługowska A.
    Metab Brain Dis; 2023 Feb; 38(2):709-715. PubMed ID: 36576693
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  • 8. Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis: a new rostrocaudal perspective.
    Kühl TG, Dihanich S, Wong AM, Cooper JD.
    J Child Neurol; 2013 Sep; 28(9):1117-22. PubMed ID: 24014506
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  • 9. Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
    Zhong Y, Mohan K, Liu J, Al-Attar A, Lin P, Flight RM, Sun Q, Warmoes MO, Deshpande RR, Liu H, Jung KS, Mitov MI, Lin N, Butterfield DA, Lu S, Liu J, Moseley HNB, Fan TWM, Kleinman ME, Wang QJ.
    Biochim Biophys Acta Mol Basis Dis; 2020 Oct 01; 1866(10):165883. PubMed ID: 32592935
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  • 10. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
    Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM.
    Int J Neurosci; 2019 Sep 01; 129(9):890-895. PubMed ID: 30892110
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  • 11. Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.
    Tokola AM, Salli EK, Åberg LE, Autti TH.
    Pediatr Neurol; 2014 Feb 01; 50(2):158-63. PubMed ID: 24411222
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  • 12. Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.
    de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE.
    J Inherit Metab Dis; 2005 Feb 01; 28(6):1065-80. PubMed ID: 16435200
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  • 13. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
    Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE.
    Neuropediatrics; 1997 Feb 01; 28(1):15-7. PubMed ID: 9151312
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  • 14. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.
    Mol Cell Neurosci; 2002 Apr 01; 19(4):515-27. PubMed ID: 11988019
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  • 15. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.
    Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM.
    Ann Neurol; 1998 Jan 01; 43(1):106-10. PubMed ID: 9450775
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  • 16. Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs.
    Shibuya H, Liu PC, Katz ML, Siakotos AN, Nonneman DJ, Johnson GS.
    J Neurosci Res; 1998 May 01; 52(3):268-75. PubMed ID: 9590435
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  • 17. Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.
    Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K.
    Graefes Arch Clin Exp Ophthalmol; 2015 Aug 01; 253(8):1245-50. PubMed ID: 25338278
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  • 18. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB.
    J Inherit Metab Dis; 2019 Sep 01; 42(5):944-954. PubMed ID: 31025705
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  • 19. Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).
    Drack AV, Mullins RF, Pfeifer WL, Augustine EF, Stasheff SF, Hong SD.
    Ophthalmic Genet; 2015 Sep 01; 36(4):359-64. PubMed ID: 24547931
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  • 20. Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.
    Preising MN, Abura M, Jäger M, Wassill KH, Lorenz B.
    Ophthalmic Genet; 2017 Sep 01; 38(3):252-259. PubMed ID: 27486012
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