Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant
出版年份 2022 全文链接
标题
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a
KCNJ10
missense variant
作者
关键词
-
出版物
JOURNAL OF VETERINARY INTERNAL MEDICINE
Volume 37, Issue 1, Pages 216-222
出版商
Wiley
发表日期
2022-11-25
DOI
10.1111/jvim.16594
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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