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Journal Abstract Search

673 related items for PubMed ID: 24953404

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  • 2. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
    Villani NA, Bullock G, Michaels JR, Yamato O, O'Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.
    Mol Genet Metab; 2019 May; 127(1):107-115. PubMed ID: 31101435
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  • 4. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
    Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS.
    BMC Vet Res; 2015 Jan 03; 10():960. PubMed ID: 25551667
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  • 9. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6.
    Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.
    Genes (Basel); 2024 May 23; 15(6):. PubMed ID: 38927597
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  • 10. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
    Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S.
    Brain Dev; 2016 Mar 23; 38(3):341-5. PubMed ID: 26443629
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  • 11. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
    Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.
    Nat Genet; 1999 Oct 23; 23(2):233-6. PubMed ID: 10508524
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  • 12. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
    Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.
    Clin Genet; 2010 Jan 23; 77(1):79-85. PubMed ID: 19807737
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  • 13. Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.
    Guo J, Johnson GS, Cook J, Harris OK, Mhlanga-Mutangadura T, Schnabel RD, Jensen CA, Katz ML.
    Mol Genet Metab Rep; 2019 Dec 23; 21():100521. PubMed ID: 31687336
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  • 17. 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 Dec 23; 115(2-3):101-9. PubMed ID: 25934231
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  • 18. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
    Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN.
    Genomics; 2005 Sep 23; 86(3):287-94. PubMed ID: 16033706
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  • 20. 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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