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Journal Abstract Search

317 related items for PubMed ID: 15818814

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  • 3. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
    Drack AV, Miller JN, Pearce DA.
    J Child Neurol; 2013 Sep; 28(9):1112-6. PubMed ID: 23877479
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  • 5. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M.
    Clin Genet; 2009 Jul; 76(1):38-45. PubMed ID: 19489875
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  • 8. Defective lysosomal arginine transport in juvenile Batten disease.
    Ramirez-Montealegre D, Pearce DA.
    Hum Mol Genet; 2005 Dec 01; 14(23):3759-73. PubMed ID: 16251196
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  • 9. 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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  • 10. 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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  • 11. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.
    J Child Neurol; 2004 Jan 01; 19(1):42-6. PubMed ID: 15032383
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  • 12. Investigation of Batten disease with the yeast Saccharomyces cerevisiae.
    Pearce DA, Sherman F.
    Mol Genet Metab; 1999 Apr 01; 66(4):314-9. PubMed ID: 10191120
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  • 13. Altered gene expression in the eye of a mouse model for batten disease.
    Chattopadhyay S, Kingsley E, Serour A, Curran TM, Brooks AI, Pearce DA.
    Invest Ophthalmol Vis Sci; 2004 Sep 01; 45(9):2893-905. PubMed ID: 15326100
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  • 14. Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.
    Cismondi IA, Kohan R, Ghio A, Ramirez AM, Halac IN.
    Hum Genet; 2008 Oct 01; 124(3):324. PubMed ID: 18846690
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  • 15. 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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  • 17. Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis.
    Herrmann P, Druckrey-Fiskaaen C, Kouznetsova E, Heinitz K, Bigl M, Cotman SL, Schliebs R.
    J Neurosci Res; 2008 Jun 01; 86(8):1857-70. PubMed ID: 18265413
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  • 18. 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 01; 28(9):1117-22. PubMed ID: 24014506
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  • 19. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.
    Mitchison HM, Taschner PE, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE.
    Neuropediatrics; 1997 Feb 01; 28(1):12-4. PubMed ID: 9151311
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  • 20. Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease.
    Chan CH, Ramirez-Montealegre D, Pearce DA.
    Neuropathol Appl Neurobiol; 2009 Apr 01; 35(2):189-207. PubMed ID: 19284480
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