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Journal Abstract Search

383 related items for PubMed ID: 28860089

  • 1. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
    Katz ML, Rustad E, Robinson GO, Whiting REH, Student JT, Coates JR, Narfstrom K.
    Neurobiol Dis; 2017 Dec; 108():277-287. PubMed ID: 28860089
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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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  • 3. 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; 118(4):326-32. PubMed ID: 27211611
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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; 120(3):269-277. PubMed ID: 28024876
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  • 5. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
    Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.
    Mol Genet Metab; 2014 Aug; 112(4):302-9. PubMed ID: 24953404
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  • 6. 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; 127(1):95-106. PubMed ID: 30956123
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  • 7. 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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  • 8. 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 03; 49(1):52-58. PubMed ID: 29446145
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  • 9. Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis.
    Katz ML, Coates JR, Cooper JJ, O'Brien DP, Jeong M, Narfström K.
    Invest Ophthalmol Vis Sci; 2008 Jun 03; 49(6):2686-95. PubMed ID: 18344450
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  • 12. Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses.
    Bartsch U, Storch S.
    Front Neurol; 2022 Jun 03; 13():866983. PubMed ID: 35509995
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  • 16. 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 03; 100(4):349-56. PubMed ID: 20494602
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  • 17. A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
    Wöhlke A, Philipp U, Bock P, Beineke A, Lichtner P, Meitinger T, Distl O.
    PLoS Genet; 2011 Oct 03; 7(10):e1002304. PubMed ID: 22022275
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  • 20. 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 03; 55(4):612-620. PubMed ID: 38866396
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