Associated Papers
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.
Stee K et al.
Journal of Veterinary Internal Medicine, 2023
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2017
Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier.
Gast AC et al.
Bmc Veterinary Research, 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
Wang Y et al.
Cell Reports, 2016
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds.
Rohdin C et al.
Acta Veterinaria Scandinavica, 2015
Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.
Forman OP et al.
Plos One, 2013
Phenotypic and genetic aspects of hereditary ataxia in dogs.
Stee K et al.
Journal of Veterinary Internal Medicine, 0
Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.
Vanhaesebrouck A et al.
Journal of Veterinary Internal Medicine, 0
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