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Journal Abstract Search

162 related items for PubMed ID: 38397235

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  • 2. 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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  • 4. A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.
    Bullock G, Johnson GS, Pattridge SG, Mhlanga-Mutangadura T, Guo J, Cook J, Campbell RS, Vite CH, Katz ML.
    Genes (Basel); 2023 Aug 31; 14(9):. PubMed ID: 37761886
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  • 7. 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 31; 82(4):326-344. PubMed ID: 35427439
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  • 8. 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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  • 10. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.
    Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML.
    Mol Genet Metab; 2019 May 03; 127(1):95-106. PubMed ID: 30956123
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  • 11. 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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  • 13. Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.
    Kolicheski A, Johnson GS, O'Brien DP, Mhlanga-Mutangadura T, Gilliam D, Guo J, Anderson-Sieg TD, Schnabel RD, Taylor JF, Lebowitz A, Swanson B, Hicks D, Niman ZE, Wininger FA, Carpentier MC, Katz ML.
    J Vet Intern Med; 2016 Jul 05; 30(4):1149-58. PubMed ID: 27203721
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  • 14. Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.
    Kick GR, Meiman EJ, Sabol JC, Whiting REH, Ota-Kuroki J, Castaner LJ, Jensen CA, Katz ML.
    Exp Eye Res; 2021 Sep 05; 210():108686. PubMed ID: 34216614
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  • 16. 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 Sep 05; 115(2-3):101-9. PubMed ID: 25934231
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  • 17. Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.
    Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA, Mhlanga-Mutangadura T, O'Brien DP, Johnson GS, Dreyfus J, Katz ML.
    J Vet Intern Med; 2017 Jan 05; 31(1):149-157. PubMed ID: 28008682
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  • 18. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
    Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS.
    Mol Genet Metab; 2006 Nov 05; 89(3):254-60. PubMed ID: 16621647
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