Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

(2020) Matias Morin et al.   NEUROGENETICS

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

(2020) Christopher A. Jenkins et al.   PLoS Genetics

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia

(2019) Letko et al.   Genes

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

(2019) Mario Van Poucke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)

(2017) Nico Mauri et al.   G3-Genes Genomes Genetics

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

(2016) Alana Christina Gast et al.   BMC Veterinary Research

The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

(2016) Mario Van Poucke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Half of 23 Belgian dog breeds has a compromised genetic diversity, as revealed by genealogical and molecular data analysis

(2016) K. Wijnrocx et al.   JOURNAL OF ANIMAL BREEDING AND GENETICS

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

(2016) Nico Mauri et al.   G3-Genes Genomes Genetics

The kinship2 R Package for Pedigree Data

(2014) Jason P. Sinnwell et al.   HUMAN HEREDITY

A HomozygousKCNJ10Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

(2014) D. Gilliam et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1

(2014) Oliver P. Forman et al.   MAMMALIAN GENOME

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

(2013) J Helen Cross et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed

(2013) Oliver P. Forman et al.   PLoS One

Spongy Degeneration with Cerebellar Ataxia in Malinois Puppies: A Hereditary Autosomal Recessive Disorder?

(2011) M. Kleiter et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

A Truncated Retrotransposon Disrupts the GRM1 Coding Sequence in Coton de Tulear Dogs with Bandera's Neonatal Ataxia

(2011) R. Zeng et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10)

(2010) Monica Sala-Rabanal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Myokymia and neuromyotonia in 37 Jack Russell terriers

(2010) Sofie F. Bhatti et al.   VETERINARY JOURNAL

New aspects of hereditary ataxia in smooth-haired fox terriers

(2010) C. Rohdin et al.   VETERINARY RECORD

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA