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Journal Abstract Search

224 related items for PubMed ID: 32518081

  • 1. Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6.
    Katz ML, Buckley RM, Biegen V, O'Brien DP, Johnson GC, Warren WC, Lyons LA.
    G3 (Bethesda); 2020 Aug 05; 10(8):2741-2751. PubMed ID: 32518081
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  • 8. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
    Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A.
    Orphanet J Rare Dis; 2022 Jan 10; 17(1):13. PubMed ID: 35012600
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  • 10. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
    Hirz M, Drögemüller M, Schänzer A, Jagannathan V, Dietschi E, Goebel HH, Hecht W, Laubner S, Schmidt MJ, Steffen F, Hilbe M, Köhler K, Drögemüller C, Herden C.
    Mol Genet Metab; 2017 Mar 10; 120(3):269-277. PubMed ID: 28024876
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  • 13. Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8.
    Lingaas F, Guttersrud OA, Arnet E, Espenes A.
    Anim Genet; 2018 Feb 10; 49(1):52-58. PubMed ID: 29446145
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  • 16. Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis.
    Meiman EJ, Kick GR, Jensen CA, Coates JR, Katz ML.
    Dev Neurobiol; 2022 May 10; 82(4):326-344. PubMed ID: 35427439
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  • 17. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.
    Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K.
    Brain Dev; 2016 Oct 10; 38(9):852-6. PubMed ID: 27165443
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  • 18. Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs.
    Bullock G, Johnson GS, Mhlanga-Mutangadura T, Petesch SC, Thompson S, Goebbels S, Katz ML.
    Gene; 2022 Jul 01; 830():146513. PubMed ID: 35447247
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  • 19. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.
    Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML.
    Mol Genet Metab; 2015 Jul 01; 115(2-3):101-9. PubMed ID: 25934231
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  • 20. A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.
    Morgan JP, Magee H, Wong A, Nelson T, Koch B, Cooper JD, Weimer JM.
    PLoS One; 2013 Jul 01; 8(11):e78694. PubMed ID: 24223841
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