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

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

Introduction of calpain inhibitors in traumatic brain injury: A novel approach?

(2012) Marina Bralic et al.   MEDICAL HYPOTHESES

Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers

(2012) An Vanhaesebrouck et al.   VETERINARY RECORD

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

 -III Spectrin Is Critical for Development of Purkinje Cell Dendritic Tree and Spine Morphogenesis

(2011) Y. Gao et al.   JOURNAL OF NEUROSCIENCE

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

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Loss of  -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

(2010) E. M. Perkins et al.   JOURNAL OF NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Population Structure and Cryptic Relatedness in Genetic Association Studies

(2010) William Astle et al.   STATISTICAL SCIENCE

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS