These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
110 related articles for article (PubMed ID: 31160700)
21. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. Gilliam D; O'Brien DP; Coates JR; Johnson GS; Johnson GC; Mhlanga-Mutangadura T; Hansen L; Taylor JF; Schnabel RD J Vet Intern Med; 2014; 28(3):871-7. PubMed ID: 24708069 [TBL] [Abstract][Full Text] [Related]
22. A new splice-site mutation in Akçakaya NH; Yapıcı Z; Tunca Cİ; Tektürk P; Akçimen F; Başak AN J Neurol Neurosurg Psychiatry; 2018 Oct; 89(10):1123-1125. PubMed ID: 29269506 [No Abstract] [Full Text] [Related]
23. Identification of a novel Rius R; González-Del Angel A; Velázquez-Aragón JA; Cordero-Guzmán LM; Muñoz-Hernández SE; Alcántara-Ortigoza MA Neurol India; 2018; 66(4):1162-1165. PubMed ID: 30038111 [No Abstract] [Full Text] [Related]
24. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Karakaya M; Paketci C; Altmueller J; Thiele H; Hoelker I; Yis U; Wirth B Am J Med Genet A; 2019 Aug; 179(8):1580-1584. PubMed ID: 31102495 [TBL] [Abstract][Full Text] [Related]
25. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. Agler C; Nielsen DM; Urkasemsin G; Singleton A; Tonomura N; Sigurdsson S; Tang R; Linder K; Arepalli S; Hernandez D; Lindblad-Toh K; van de Leemput J; Motsinger-Reif A; O'Brien DP; Bell J; Harris T; Steinberg S; Olby NJ PLoS Genet; 2014 Feb; 10(2):e1003991. PubMed ID: 24516392 [TBL] [Abstract][Full Text] [Related]
26. A SINE Insertion in Mauri N; Kleiter M; Dietschi E; Leschnik M; Högler S; Wiedmer M; Dietrich J; Henke D; Steffen F; Schuller S; Gurtner C; Stokar-Regenscheit N; O'Toole D; Bilzer T; Herden C; Oevermann A; Jagannathan V; Leeb T G3 (Bethesda); 2017 Aug; 7(8):2729-2737. PubMed ID: 28620085 [TBL] [Abstract][Full Text] [Related]
27. Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site. Moser D; Ekawardhani S; Kumsta R; Palmason H; Bock C; Athanassiadou Z; Lesch KP; Meyer J Neuropsychopharmacology; 2009 Jan; 34(2):458-67. PubMed ID: 18536702 [TBL] [Abstract][Full Text] [Related]
28. A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. Gentilini F; Turba ME; Giancola F; Chiocchetti R; Bernardini C; Dajbychova M; Jagannathan V; Drögemüller M; Drögemüller C PLoS One; 2019; 14(9):e0220625. PubMed ID: 31484196 [TBL] [Abstract][Full Text] [Related]
29. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). Wiedmer M; Oevermann A; Borer-Germann SE; Gorgas D; Shelton GD; Drögemüller M; Jagannathan V; Henke D; Leeb T G3 (Bethesda); 2015 Nov; 6(2):255-62. PubMed ID: 26596647 [TBL] [Abstract][Full Text] [Related]
30. Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. Shekarabi M; Moldrich RX; Rasheed S; Salin-Cantegrel A; Laganière J; Rochefort D; Hince P; Huot K; Gaudet R; Kurniawan N; Sotocinal SG; Ritchie J; Dion PA; Mogil JS; Richards LJ; Rouleau GA J Neurosci; 2012 Mar; 32(11):3865-76. PubMed ID: 22423107 [TBL] [Abstract][Full Text] [Related]
31. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations. Ader F; De Groote P; Réant P; Rooryck-Thambo C; Dupin-Deguine D; Rambaud C; Khraiche D; Perret C; Pruny JF; Mathieu-Dramard M; Gérard M; Troadec Y; Gouya L; Jeunemaitre X; Van Maldergem L; Hagège A; Villard E; Charron P; Richard P Clin Genet; 2019 Oct; 96(4):317-329. PubMed ID: 31245841 [TBL] [Abstract][Full Text] [Related]
32. Spongy degeneration with cerebellar ataxia in Malinois puppies: a hereditary autosomal recessive disorder? Kleiter M; Högler S; Kneissl S; Url A; Leschnik M J Vet Intern Med; 2011; 25(3):490-6. PubMed ID: 21488963 [TBL] [Abstract][Full Text] [Related]
33. A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. Becker D; Minor KM; Letko A; Ekenstedt KJ; Jagannathan V; Leeb T; Shelton GD; Mickelson JR; Drögemüller C BMC Genomics; 2017 Aug; 18(1):662. PubMed ID: 28841859 [TBL] [Abstract][Full Text] [Related]
34. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. Sayyab S; Viluma A; Bergvall K; Brunberg E; Jagannathan V; Leeb T; Andersson G; Bergström TF G3 (Bethesda); 2016 Jan; 6(3):521-7. PubMed ID: 26747202 [TBL] [Abstract][Full Text] [Related]
35. A deletion mutation in Slc12a6 is associated with neuromuscular disease in gaxp mice. Jiao Y; Jin X; Yan J; Zhang C; Jiao F; Li X; Roe BA; Mount DB; Gu W Genomics; 2008 May; 91(5):407-14. PubMed ID: 18343091 [TBL] [Abstract][Full Text] [Related]
36. A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Abitbol M; Jagannathan V; Laurent N; Noblet E; Dutil GF; Troupel T; de Dufaure de Citres C; Gache V; Blot S; Escriou C; Leeb T Anim Genet; 2022 Oct; 53(5):709-712. PubMed ID: 35864734 [TBL] [Abstract][Full Text] [Related]
37. A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca Casey JP; Hirouchi T; Hisatsune C; Lynch B; Murphy R; Dunne AM; Miyamoto A; Ennis S; van der Spek N; O'Hici B; Mikoshiba K; Lynch SA J Neurol; 2017 Jul; 264(7):1444-1453. PubMed ID: 28620721 [TBL] [Abstract][Full Text] [Related]
38. A Japanese family with early-onset ataxia with motor and sensory neuropathy. Kobayashi S; Takuma H; Murayama S; Sakurai M; Kanazawa I J Neurol Sci; 2007 Mar; 254(1-2):44-8. PubMed ID: 17258771 [TBL] [Abstract][Full Text] [Related]
39. A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. Steffen F; Bilzer T; Brands J; Golini L; Jagannathan V; Wiedmer M; Drögemüller M; Drögemüller C; Leeb T G3 (Bethesda); 2015 Oct; 5(12):2611-7. PubMed ID: 26438297 [TBL] [Abstract][Full Text] [Related]
40. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Filges I; Nosova E; Bruder E; Tercanli S; Townsend K; Gibson WT; Röthlisberger B; Heinimann K; Hall JG; Gregory-Evans CY; Wasserman WW; Miny P; Friedman JM Clin Genet; 2014 Sep; 86(3):220-8. PubMed ID: 24128419 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]