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| 37761886 | A Homozygous Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency. | | 2023 |
| 34490804 | Pathologic characterization of canine multiple system degeneration in the Ibizan hound. | Veterinary Pathology | 2022 |
| 35447247 | Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs. | Gene | 2022 |
| 36421833 | Novel Homozygous Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome. | Genes | 2022 |
| 34144877 | Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. | Journal of Veterinary Cardiology | 2022 |
| 32958658 | Variants in and are associated with small body size and a dental anomaly in dogs. | Proceedings of the National Academy of Sciences of the United States of America | 2020 |
| 33261176 | A Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. | Genes | 2020 |
| 33244473 | Magnetic Resonance Imaging and Histopathologic Findings From a Standard Poodle With Neonatal Encephalopathy With Seizures. | Frontiers in Veterinary Science | 2020 |
| 33293645 | Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b reductase deficiency in 30 dogs. | Scientific Reports | 2020 |
| 31294848 | A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. | Animal Genetics | 2019 |
| 31687336 | Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported nonsense variant. | Molecular Genetics and Metabolism Reports | 2019 |
| 31101435 | A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. | Molecular Genetics and Metabolism | 2019 |
| 27891564 | A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. | Neurogenetics | 2017 |
| 28833537 | GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. | Journal of Veterinary Internal Medicine | 2017 |
| 28963729 | Long-term Treatment with Methylene Blue in a Dog with Hereditary Methemoglobinemia Caused by Cytochrome b5 Reductase Deficiency. | Journal of Veterinary Internal Medicine | 2017 |
| 28008682 | Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. | Journal of Veterinary Internal Medicine | 2017 |
| 27558513 | A One Health overview, facilitating advances in comparative medicine and translational research. | Clinical and Translational Medicine | 2016 |
| 26968732 | A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. | Journal of Veterinary Internal Medicine | 2016 |
| 27185954 | Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. | Proc Natl Acad Sci U S A | 2016 |
| 27211611 | Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. | Molecular Genetics and Metabolism | 2016 |
| 27203721 | Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. | Journal of Veterinary Internal Medicine | 2016 |
| 26607784 | A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. | Neurobiology of Disease | 2016 |
| 25998802 | 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. | Acta Veterinaria Scandinavica | 2015 |
| 25551667 | A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. | BMC Veterinary Research | 2015 |
| 25934231 | Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. | Molecular Genetics and Metabolism | 2015 |
| 24708069 | A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. | Journal of Veterinary Internal Medicine | 2014 |
| 24026940 | Characterization of neuronal ceroid-lipofuscinosis in 3 cats. | Veterinary Pathology | 2014 |
| 24953404 | A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. | Molecular Genetics and Metabolism | 2014 |
| 24524809 | Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. | J Vet Intern Med | 2014 |
| 23266199 | GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. | Molecular Genetics and Metabolism | 2013 |
| 23951034 | Genome-wide association study identifies a novel canine glaucoma locus. | PLoS ONE | 2013 |
| 22834903 | A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. | BMC Veterinary Research | 2012 |
| 21848967 | Degenerative myelopathy in a Bernese Mountain Dog with a novel SOD1 missense mutation. | Journal of Veterinary Internal Medicine | 2011 |
| 21234413 | A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. | | 2011 |
| 21362476 | A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. | Neurobiol Dis | 2011 |
| 21281350 | A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia. | Journal of Veterinary Internal Medicine | 2011 |
| 20494602 | A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. | Molecular Genetics and Metabolism | 2010 |
| 20672015 | COGNITIVE DECLINE IN A DOG MODEL FOR AN INHERITED NEURODEGENERATIVE DISEASE USING T-MAZE PERFORMANCE. | Journal of Veterinary Behavior: Clinical Applications and Research | 2010 |
| 20711490 | A simple genetic architecture underlies morphological variation in dogs. | PLoS Biol | 2010 |
| 20375329 | An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. | Investigative Ophthalmology and Visual Science | 2010 |
| 19846765 | Resolving the evolution of extant and extinct ruminants with high-throughput phylogenomics. | Proceedings of the National Academy of Sciences of the United States of America | 2009 |
| 19717540 | Fine mapping a locus controlling leg morphology in the domestic dog. | Cold Spring Harb Symp Quant Biol | 2009 |
| 19375465 | Involvement of oxidative pathways in cytokine-induced secretory phospholipase A2-IIA in astrocytes. | Neurochemistry International | 2009 |
| 19188595 | Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. | Proc Natl Acad Sci U S A | 2009 |
| 18724412 | A phosducin (PDC ) gene mutation does not cause progressive retinal atrophy in Korean miniature schnauzers. | Anim Genet | 2008 |
| 17962032 | Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. | Neurobiology of Disease | 2008 |
| 18074159 | A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. | Neurogenetics | 2008 |
| 18196743 | Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. | Journal of Veterinary Internal Medicine | 2007 |
| 17412960 | A single IGF1 allele is a major determinant of small size in dogs. | Science | 2007 |
| 18004671 | Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. | Journal of Inherited Metabolic Disease | 2007 |