281 related articles for article (PubMed ID: 25934231)
1. 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; 115(2-3):101-9. PubMed ID: 25934231
[TBL] [Abstract][Full Text] [Related]
2. 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; 10():960. PubMed ID: 25551667
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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; 210():108686. PubMed ID: 34216614
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
6. 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; 82(4):326-344. PubMed ID: 35427439
[TBL] [Abstract][Full Text] [Related]
7. 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; 30(4):1149-58. PubMed ID: 27203721
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.
Houweling PJ; Cavanagh JA; Palmer DN; Frugier T; Mitchell NL; Windsor PA; Raadsma HW; Tammen I
Biochim Biophys Acta; 2006 Oct; 1762(10):890-7. PubMed ID: 16935476
[TBL] [Abstract][Full Text] [Related]
11. A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
Li W; Fan X; Zhang Y; Huang L; Jiang T; Qin Z; Su J; Luo J; Yi S; Zhang S; Shen Y
BMC Med Genet; 2020 May; 21(1):100. PubMed ID: 32393339
[TBL] [Abstract][Full Text] [Related]
12. 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; 89(3):254-60. PubMed ID: 16621647
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs.
Shibuya H; Liu PC; Katz ML; Siakotos AN; Nonneman DJ; Johnson GS
J Neurosci Res; 1998 May; 52(3):268-75. PubMed ID: 9590435
[TBL] [Abstract][Full Text] [Related]
15. 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; 86(3):287-94. PubMed ID: 16033706
[TBL] [Abstract][Full Text] [Related]
16. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
Farias FH; Zeng R; Johnson GS; Wininger FA; Taylor JF; Schnabel RD; McKay SD; Sanders DN; Lohi H; Seppälä EH; Wade CM; Lindblad-Toh K; O'Brien DP; Katz ML
Neurobiol Dis; 2011 Jun; 42(3):468-74. PubMed ID: 21362476
[TBL] [Abstract][Full Text] [Related]
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; 31(1):149-157. PubMed ID: 28008682
[TBL] [Abstract][Full Text] [Related]
18. 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; 49(1):52-58. PubMed ID: 29446145
[TBL] [Abstract][Full Text] [Related]
19. Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy.
Hughes SM; Hope KM; Xu JB; Mitchell NL; Palmer DN
Neurobiol Dis; 2014 Feb; 62():543-50. PubMed ID: 24269732
[TBL] [Abstract][Full Text] [Related]
20. 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; 830():146513. PubMed ID: 35447247
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
