Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling

(2015) C. M. Ha et al.   JOURNAL OF CELL SCIENCE

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

(2015) Naiara Akizu et al.   NATURE GENETICS

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

(2014) Anna C. Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Snx14 Regulates Neuronal Excitability, Promotes Synaptic Transmission, and Is Imprinted in the Brain of Mice

(2014) Hsien-Sung Huang et al.   PLoS One

Canine Hereditary Ataxia

(2014) Ganokon Urkasemsin et al.   VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE

Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

(2014) Caryline Agler et al.   PLoS Genetics

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

(2012) Oliver P Forman et al.   BMC GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

(2012) Kaisa Kyöstilä et al.   PLoS Genetics

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

Mapping of Purkinje Neuron Loss and Polyglucosan Body Accumulation in Hereditary Cerebellar Degeneration in Scottish Terriers

(2011) G. Urkasemsin et al.   VETERINARY PATHOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Hereditary Cerebellar Degeneration in Scottish Terriers

(2010) G. Urkasemsin et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

DEVELOPMENT OF A MORPHOMETRIC MAGNETIC RESONANCE IMAGE PARAMETER SUITABLE FOR DISTINGUISHING BETWEEN NORMAL DOGS AND DOGS WITH CEREBELLAR ATROPHY

(2010) RYAN A. THAMES et al.   VETERINARY RADIOLOGY & ULTRASOUND

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Computer-Assisted Magnetic Resonance Imaging Brain Morphometry in American Staffordshire Terriers with Cerebellar Cortical Degeneration

(2009) D. Henke et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE