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Neurology, ISSN 0028-3878, 05/2018, Volume 90, Issue 20, pp. e1827 - e1831
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 566 - 573
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 10/2018, Volume 59, Issue 12, pp. 5082 - 5097
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, p. 370
Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of... 
CLN2 | Neuronal Ceroid Lipofuscinosis (NCL) | Next-Generation Sequencing (NGS) | CLN7 | Late-infantile | CLN6 | CLN5 | late-infantile | MURINE MODEL | MESSENGER-RNA | LYSOSOMAL DEGRADATION | MOUSE MODEL | DISEASE | GENETICS & HEREDITY | GENE-THERAPY | PROTEIN CLN5 | MUTATIONS | SPECTRUM | STEM-CELL TRANSPLANTATION | Proteins | Neurons | Analysis
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 06/2017, Volume 487, Issue 4, pp. 917 - 922
Journal Article
Biology Open, ISSN 2046-6390, 06/2013, Volume 2, Issue 6, pp. 635 - 646
Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative... 
Metal transporter | Biometal homeostasis | Neurodegeneration | CLN6 | Neuronal ceroid lipofuscinoses | BIOLOGY
Journal Article
Applied Animal Behaviour Science, ISSN 0168-1591, 02/2016, Volume 175, pp. 32 - 40
Neuronal ceroid lipofuscinoses (NCL) is an inherited neurodegenerative disorder in children. Presently there is no effective treatment and the disorder is... 
Animal model | Neurodegenerative disease | Sheep | Genetics | Behavioural indicators | AGRICULTURE, DAIRY & ANIMAL SCIENCE | BATTENS DISEASE | NEURODEGENERATION | CLN6 | NCL | MUTATION | BORDERDALE SHEEP | BEHAVIORAL SCIENCES | VETERINARY SCIENCES | ANIMAL-MODEL | Neurons | Analysis
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2012, Volume 7, Issue 4, pp. e35493 - e35493
Variant late-infantile neuronal ceroid lipofuscinosis, a fatal lysosomal storage disorder accompanied by regional atrophy and pronounced neuron loss in the... 
ACTIVATION | UNFOLDED PROTEIN RESPONSE | STORAGE DISEASE | MULTIDISCIPLINARY SCIENCES | DEGRADATION | NEURODEGENERATION | MUTATIONS | CLN6 | TRANSMEMBRANE PROTEIN | CELL-DEATH | Neuronal Ceroid-Lipofuscinoses - physiopathology | Autophagy | Recombinant Fusion Proteins - metabolism | Neuronal Ceroid-Lipofuscinoses - pathology | Atrophy | Lysosomes - metabolism | Proteolysis | Membrane Proteins - metabolism | Ubiquitinated Proteins - metabolism | Disease Models, Animal | Green Fluorescent Proteins - metabolism | Olfactory Bulb - pathology | Membrane Proteins - genetics | Cerebellum - metabolism | Neuronal Ceroid-Lipofuscinoses - metabolism | Hippocampus - pathology | Unfolded Protein Response | Cerebellum - pathology | Transcription Factors - metabolism | Hippocampus - metabolism | Astrocytes - physiology | Animals | Endoplasmic Reticulum Stress | Mice | Mutagenesis, Insertional | Proteasome Endopeptidase Complex - metabolism | Astrocytes - metabolism | Proteins | Brain | Genetic aspects | Models | Neurons | Analysis | Cerebellum | Neurosciences | Neuropathology | Pathogenesis | Lysosomes | Phagosomes | Nervous system | Biochemistry | Phosphatase | Degradation | Neurodegeneration | Purkinje cells | Protein folding | Thalamus | Neuronal ceroid lipofuscinosis | Age | Enzymes | Cortex | Protein biosynthesis | Radioactive half-life | Membrane proteins | Children & youth | Brain research | Gliosis | Storage | Microscopy | Proteasomes | Olfactory bulb | Mutation | Disruption | Endoplasmic reticulum | Phagocytosis | Index Medicus
Journal Article