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Journal Abstract Search

186 related items for PubMed ID: 38927597

  • 1. 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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  • 4. 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 23; 120(3):269-277. PubMed ID: 28024876
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  • 7. Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6.
    Bellamy KKL, Skedsmo FS, Hultman J, Jansen JH, Lingaas F.
    Anim Genet; 2024 Aug 23; 55(4):612-620. PubMed ID: 38866396
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  • 9. 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 23; 30(4):1149-58. PubMed ID: 27203721
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  • 10. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.
    Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP.
    J Biomed Biotechnol; 2011 Jul 23; 2011():198042. PubMed ID: 21234413
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  • 11. Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.
    Ashwini A, D'Angelo A, Yamato O, Giordano C, Cagnotti G, Harcourt-Brown T, Mhlanga-Mutangadura T, Guo J, Johnson GS, Katz ML.
    Mol Genet Metab; 2016 Aug 23; 118(4):326-32. PubMed ID: 27211611
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  • 15. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
    Sun G, Yao F, Tian Z, Ma T, Yang Z.
    BMC Med Genet; 2018 Oct 01; 19(1):177. PubMed ID: 30285654
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  • 19. 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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  • 20. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.
    Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O'Brien DP, Hofmann SL, Lu JY, Katz ML.
    Mol Genet Metab; 2010 Aug 31; 100(4):349-56. PubMed ID: 20494602
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