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Journal of Comparative Pathology, ISSN 0021-9975, 05/2017, Volume 156, Issue 4, pp. 451 - 457
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 12/2018, Volume 9, p. 597
Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at... 
infantile neuroaxonal dystrophy | CELLS | rare disease | enzyme replacement therapy | vector gene therapy | CRISPR/Cas9 | MITOCHONDRIAL | NEURODEGENERATION | GENETIC-VARIATION | exome sequencing | INDEPENDENT PHOSPHOLIPASE A | THERAPY | INHIBITION | DISEASE | GENETICS & HEREDITY | BRAIN | IPLA | Neuroaxonal dystrophies | Usage | Care and treatment | Genetic aspects | Diagnosis | Molecular diagnostic techniques
Journal Article
CNS Neuroscience & Therapeutics, ISSN 1755-5930, 01/2014, Volume 20, Issue 1, pp. 50 - 58
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, p. e0155605
Journal Article
Pediatric Anesthesia, ISSN 1155-5645, 03/2017, Volume 27, Issue 3, pp. 322 - 324
Summary Infantile neuroaxonal dystrophy is a rare neurological disorder that is universally fatal with life expectancy under 10 years. A 10‐year‐old boy with... 
neurodegenerative diseases | neuroaxonal dystrophies | general anesthesia | scoliosis | ANESTHESIOLOGY | PEDIATRICS | Spinal Fusion - methods | Humans | Perioperative Care - methods | Male | Treatment Outcome | Neuroaxonal Dystrophies - surgery | Child | Nervous system diseases | Analysis
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2014, Volume 56, Issue 4, pp. 386 - 389
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6)... 
NEURODEGENERATION | DISORDERS | PEDIATRICS | SPECTRUM | PLA2G6 | CLINICAL NEUROLOGY | Magnetic Resonance Imaging | Uniparental Disomy - genetics | Group VI Phospholipases A2 - genetics | Humans | Female | Infant | Uniparental Disomy - physiopathology | Neuroaxonal Dystrophies - genetics
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, p. e0141824
Clinical, pathological and genetic examination revealed an as yet uncharacterized juvenile-onset neuroaxonal dystrophy (NAD) in Spanish water dogs. Affected... 
NEURODEGENERATIVE DISORDERS | AXONAL DEGENERATION | PROTEIN | HEREDITARY SPASTIC PARAPARESIS | MULTIDISCIPLINARY SCIENCES | BRAIN IRON ACCUMULATION | MOUSE MODEL | DISEASE | PHOSPHOLIPASE A | AUTOPHAGY | MUTATIONS | Mammals - genetics | Spastic Paraplegia, Hereditary - genetics | Pantothenate Kinase-Associated Neurodegeneration - veterinary | Species Specificity | Humans | Molecular Sequence Data | Mutation, Missense | Dog Diseases - pathology | Lod Score | Spinal Cord - pathology | Conserved Sequence | Dogs - classification | Autophagy - genetics | Dogs - genetics | Pantothenate Kinase-Associated Neurodegeneration - pathology | Amino Acid Sequence | Nerve Tissue Proteins - physiology | Genetic Association Studies | Dog Diseases - genetics | Chromosome Mapping | Genes, Recessive | Nerve Tissue Proteins - genetics | Amino Acid Motifs | Sequence Homology, Amino Acid | Carrier Proteins - genetics | Phenotype | Sequence Alignment | Animals | Pantothenate Kinase-Associated Neurodegeneration - genetics | Brain - pathology | Polymorphism, Single Nucleotide | Neuroaxonal dystrophies | Dogs | Development and progression | Genetic aspects | Single nucleotide polymorphisms | Identification and classification | Diseases | Cerebellum | Immunohistochemistry | Spinal cord | Neurosciences | Basal ganglia | Disease | Gait | Brain stem | Veterinary services | Phagosomes | Homeostasis | Iron | Genomes | Single-nucleotide polymorphism | Kinases | Veterinary medicine | Homozygosity | Autophagy | Substantia grisea | Accumulation | Gene sequencing | Proteins | Histopathology | Pathways | Neurodegeneration | Coding | Etiology | Genetics | Lesions | Bioinformatics | Linkage analysis | Spastic paraparesis | Abnormalities | Cerebral hemispheres | Membrane vesicles | Heredity | Metabolism | Spheroids | Ganglia | Neurological diseases | NAD | Pathology | Genotyping | Neural networks | Dystrophy | Mutation | Phagocytosis | Other Veterinary Science | Annan veterinärmedicin
Journal Article
Journal Article