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neuronal ceroid-lipofuscinoses - pathology (24) 24
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The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2008, Volume 105, Issue 1, pp. 311 - 316
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2017, Volume 114, Issue 29, pp. E5920 - E5929
Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is an inherited neurodegenerative storage disorder caused by a deficiency of the lysosomal... 
Infantile Batten disease | Brain | Adeno-associated virus | Spinal cord | Combination therapy | PRECLINICAL MOUSE MODEL | PALMITOYL-PROTEIN THIOESTERASE | MULTIDISCIPLINARY SCIENCES | MUCOPOLYSACCHARIDOSIS TYPE-VII | LYSOSOMAL STORAGE | infantile Batten disease | adeno-associated virus | brain | MURINE MODEL | combination therapy | CENTRAL-NERVOUS-SYSTEM | BATTEN-DISEASE | spinal cord | ENZYME REPLACEMENT THERAPY | DIRECTED GENE-THERAPY | NEURONAL CEROID-LIPOFUSCINOSIS | Neurons - pathology | Spinal Cord - drug effects | Genetic Vectors - administration & dosage | Neuroglia - pathology | Humans | Thiolester Hydrolases - administration & dosage | Membrane Proteins - pharmacology | Neuronal Ceroid-Lipofuscinoses - pathology | Mice, Mutant Strains | Spinal Cord - pathology | Child | Disease Models, Animal | Injections, Spinal | Neuronal Ceroid-Lipofuscinoses - therapy | Membrane Proteins - genetics | Mice, Inbred C57BL | Thiolester Hydrolases - pharmacology | Recombinant Proteins - genetics | Recombinant Proteins - pharmacology | Brain - drug effects | Membrane Proteins - administration & dosage | Animals | Genetic Vectors - pharmacology | Brain - pathology | Thiolester Hydrolases - genetics | Thiolester Hydrolases - metabolism | Injections, Intraventricular - methods | Genetic Therapy - methods | Thioesterase | Neuropathology | Forebrain | Viruses | Pathology | Synergistic effects | Life span | Animal tissues | Mice | Neuronal ceroid lipofuscinosis | Gene therapy | Neurological disorders | Palmitoyl-(protein) hydrolase | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 3/2016, Volume 18, Issue 1, pp. 109 - 133
Neuronal ceroid lipofuscinoses (NCL) are the most commonly inherited progressive encephalopathies of childhood. Pathologically, they are characterized by... 
Neurology | Neurosciences | Biomedicine | PPT1—palmitoyl-protein thioesterase 1 | Internal Medicine | Laser capture microdissection | LC-MS E , lysosomal storage disorders | MALDI-MSI | RNA sequence analysis | Classic infantile NCL | LC-MS | lysosomal storage disorders | IMAGING MASS-SPECTROMETRY | MYELIN PROTEINS | INFANTILE TYPE | PALMITOYL-PROTEIN THIOESTERASE | PPT1-palmitoyl-protein thioesterase 1 | LC-MSE, lysosomal storage disorders | NEUROSCIENCES | MOUSE MODEL | NEURONAL-CEROID-LIPOFUSCINOSIS | GENE-EXPRESSION | CATHEPSIN-D DEFICIENCY | ELECTROSPRAY-IONIZATION | Thalamus - metabolism | Thiolester Hydrolases - deficiency | Humans | Cerebral Cortex - pathology | Laser Capture Microdissection | Male | Gene Expression Profiling | Neuronal Ceroid-Lipofuscinoses - physiopathology | Thalamus - pathology | Cerebral Cortex - metabolism | Neuronal Ceroid-Lipofuscinoses - pathology | Cerebral Cortex - physiopathology | Mitochondria | Neuronal Ceroid-Lipofuscinoses - genetics | Nerve Tissue Proteins - biosynthesis | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Disease Models, Animal | Fibroblasts - metabolism | Myelin Sheath - pathology | Cells, Cultured | Neuronal Ceroid-Lipofuscinoses - metabolism | Nerve Tissue Proteins - genetics | Disease Progression | Neurites - pathology | Animals | Thalamus - physiopathology | Proteomics | Mice | Thiolester Hydrolases - genetics | Models, Neurological | Immunohistochemistry | Brain | RNA | Ionization | Models | Mass spectrometry | Neurophysiology | Index Medicus
Journal Article
Brain : a journal of neurology, 01/2019, Volume 142, Issue 1, p. 2
Journal Article
Brain : a journal of neurology, 01/2019, Volume 142, Issue 1, p. 2
Journal Article
Brain : a journal of neurology, 01/2019, Volume 142, Issue 1, p. 2
Journal Article
Brain : a journal of neurology, 01/2019, Volume 142, Issue 1, p. 2
Journal Article
Brain : a journal of neurology, 01/2019, Volume 142, Issue 1, p. 2
Journal Article
Brain : a journal of neurology, 01/2019, Volume 142, Issue 1, p. 2
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 08/2008, Volume 106, Issue 3, pp. 1415 - 1425
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2012, Volume 50, Issue 1, pp. 107 - 119
Journal Article
Brain, ISSN 0006-8950, 01/2019, Volume 142, Issue 1, pp. 2 - 5
This scientific commentary refers to 'Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features', by Berkovic et al.... 
MUTATIONS | FORM | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Journal Article