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Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 2012, Volume 8, Issue 6, p. e1002759
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2015, Volume 11, Issue 4, p. e1005169
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 973 - 11
Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations... 
INFANTILE HYPOPHOSPHATASIA | PERINATAL HYPOPHOSPHATASIA | NOSOLOGY | GENOTYPE | MULTIDISCIPLINARY SCIENCES | MUTATION | PYRIDOXAL-5'-PHOSPHATE | MATRIX VESICLES | VITAMIN-B6 | BONE | PYRIDOXINE-RESPONSIVE SEIZURES | Alkaline phosphatase | Dental disorders | Growth rate | Mineralization | Bone diseases | Phosphatase | Hypophosphatasia | Genetic screening | Seizures
Journal Article
PLOS GENETICS, ISSN 1553-7404, 09/2019, Volume 15, Issue 9, p. e1008378
Journal Article
Veterinary Pathology, ISSN 0300-9858, 11/2017, Volume 54, Issue 6, pp. 953 - 963
A missense variant in the autophagy-related ATG4D-gene has been associated with a progressive degenerative neurological disease in Lagotto Romagnolo (LR) dogs.... 
Western blot | cytoplasmic vacuolization | pathology | basal autophagy | electron microscopy | dog | ATG4D | immunofluorescence | CELLS | CLEARANCE | ACTIVATION | MUCOPOLYSACCHARIDOSES | PROTEIN | FLUX | LYSOSOMAL STORAGE DISEASES | MATURATION | DEGRADATION | VETERINARY SCIENCES
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2015, Volume 11, Issue 4
  Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic... 
Disease | Colleges & universities | Homeostasis | Nervous system | Genomes | Grants | Experiments | Autophagy | Proteins | Brain research | Neurodegeneration | Dogs | Ataxia | Metabolic disorders
Journal Article
Plos Genetics, ISSN 1553-7404, 2015, Volume 11, Issue 4
Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic... 
Annan veterinärmedicin | Other Veterinary Science
Journal Article
PLoS Genetics, ISSN 1553-7390, 06/2012, Volume 8, Issue 6
Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. Hereditary ataxias occur... 
Animal genetics | Gene mutations | Cerebellar ataxia | Physiological aspects | Development and progression | Canidae | Genetic aspects | Research | Endoplasmic reticulum | Health aspects
Journal Article