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Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0176363
Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration... 
ACID | RAT | MALONYL-COA | MULTIDISCIPLINARY SCIENCES | CITRATE | IRON | DYSFUNCTION | ENERGY-METABOLISM | PROTEINS | HUNTINGTONS-DISEASE | CYCLE | Aconitic Acid - blood | Humans | Ketoglutaric Acids - blood | Child, Preschool | Heredodegenerative Disorders, Nervous System - diagnosis | Male | Aconitate Hydratase - deficiency | Biomarkers - blood | Hydroxybutyrates - blood | Heredodegenerative Disorders, Nervous System - blood | Metabolomics - methods | Isocitrates - blood | Phosphoenolpyruvate - blood | Adolescent | Female | Aconitate Hydratase - genetics | Child | Metabolomics | Mitochondria | Analysis | Research | Aconitase | Health aspects | Blood plasma | Cerebellum | Brain | Pediatrics | Dehydrogenases | 4-Hydroxynonenal | Liver | Carbon dioxide | Retina | Mitochondrial DNA | Assaying | Dehydrogenase | Inactivation | Genetic screening | Proteins | Antioxidants | Enzymatic activity | Neurodegeneration | Aging | Genetics | Biocompatibility | Ataxia | Bioindicators | Diagnosis | Catalysis | Alzheimer's disease | Movement disorders | Deoxyribonucleic acid--DNA | Carbohydrates | Enzymes | AMP | Neurodegenerative diseases | Abnormalities | Cultures | Metabolism | Gene expression | Fatty acids | Children & youth | Diseases | Neurology | Hospitals | Insects | Biomarkers | Guardians | Poisoning | Mutation | Acetic acid | Kidney transplantation | Huntingtons disease | Oxidative stress | Families & family life | Iron | Biosynthesis | Infections | Kinases | AMP-activated protein kinase | Control | Missense mutation | Metabolites | Children | Paralysis | Adenosine triphosphate | Urine | Alanine | Kidneys | Aging (artificial) | Adenine | Pharmacology | Standards | Computer programs | Lobes | Medicine | Brain research | Proteomics | Acidosis | Respiration | Alzheimers disease | ATP | Plasmas (physics) | Deoxyribonucleic acid | DNA
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), 2017, Volume 7, p. 512
Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in... 
Abetalipoproteinemia - blood | Prospective Studies | Cognition Disorders - blood | Humans | Middle Aged | Acanthocytes | Heredodegenerative Disorders, Nervous System - blood | Blood Cell Count | Young Adult | Flow Cytometry | Chorea - blood | Adult | Huntington Disease - blood | Aged | Dementia - blood
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2007, Volume 264, Issue 1, pp. 18 - 21
Journal Article
Journal Article
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, ISSN 1997-7298, 2003, Volume 103, Issue 5, p. 60
Hereditary neuromuscular disorders (HNMD), with population incidence 1:3000, are characterized in most cases by progressive course and treatment resistance and... 
Glycosaminoglycans - blood | Heparan Sulfate Proteoglycans - blood | Humans | Middle Aged | Adult | Female | Male | Aged | Chondroitin Sulfates - blood | Hyaluronic Acid - blood | Heredodegenerative Disorders, Nervous System - blood
Journal Article
Brain, ISSN 0006-8950, 01/2014, Volume 137, Issue 1, pp. 57 - 68
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2004, Volume 101, Issue 22, pp. 8425 - 8430
Sandhoff disease is a prototypical lysosomal storage disorder in which a heritable deficiency of a lysosomal enzyme, β-hexosaminidase, results in the storage... 
Biological Sciences | Spinal cord | Nervous system diseases | Messenger RNA | Neurons | Astrocytes | Central nervous system | Central nervous system diseases | Lysosomal storage diseases | Mice | Sandhoff disease | CELLS | GANGLIOSIDOSIS | MICROGLIA | BONE-MARROW-TRANSPLANTATION | CHEMOKINES | MULTIDISCIPLINARY SCIENCES | CENTRAL-NERVOUS-SYSTEM | TAY-SACHS | MIP-1-ALPHA | BLOOD-BRAIN-BARRIER | MOUSE MODELS | Heredodegenerative Disorders, Nervous System - genetics | Up-Regulation | Body Weight | Central Nervous System - metabolism | Sandhoff Disease - pathology | Monocytes - cytology | Heredodegenerative Disorders, Nervous System - pathology | Humans | Sandhoff Disease - metabolism | Child, Preschool | Male | Monocytes - metabolism | Life Expectancy | Female | Macrophage-1 Antigen - metabolism | beta-N-Acetylhexosaminidases - genetics | Disease Models, Animal | Astrocytes - cytology | Chemokine CCL4 | Chemokine CCL3 | beta-N-Acetylhexosaminidases - metabolism | Macrophage Inflammatory Proteins - metabolism | Sandhoff Disease - genetics | Behavior, Animal - physiology | Macrophages - cytology | Macrophage Inflammatory Proteins - genetics | Mice, Knockout | Macrophages - metabolism | Animals | Central Nervous System - cytology | Macrophage-1 Antigen - genetics | Heredodegenerative Disorders, Nervous System - metabolism | Apoptosis | Astrocytes - metabolism
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2007, Volume 267, Issue 1, pp. 3 - 16
Abstract Once considered little more than the glue that holds neurons in place, astrocytes are now becoming appreciated for the key roles they play in central... 
Neurology | Astroglia | Pathophysiology | Glia | Astrocytes | Pathogenesis | Diseases of the nervous system | astroglia | TEMPORAL-LOBE EPILEPSY | MILD CLINICAL COURSE | AMYOTROPHIC-LATERAL-SCLEROSIS | glia | NEUROSCIENCES | SPREADING DEPRESSION | CLINICAL NEUROLOGY | pathogenesis | GLUTAMATE TRANSPORTER GLT-1 | diseases of the nervous system | POLYMERASE-CHAIN-REACTION | MULTIPLE-SCLEROSIS | pathophysiology | PYRUVATE-CARBOXYLASE DEFICIENCY | BRAIN-BARRIER DISRUPTION | WHITE-MATTER DISEASE | astrocytes | Heavy Metal Poisoning, Nervous System - metabolism | Central Nervous System - metabolism | Demyelinating Autoimmune Diseases, CNS - metabolism | Encephalitis, Viral - physiopathology | Humans | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Heredodegenerative Disorders, Nervous System - physiopathology | Brain Diseases, Metabolic - metabolism | Central Nervous System Diseases - metabolism | Demyelinating Autoimmune Diseases, CNS - physiopathology | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Brain Diseases, Metabolic - physiopathology | Heavy Metal Poisoning, Nervous System - physiopathology | Encephalitis, Viral - metabolism | Central Nervous System - physiopathology | Heredodegenerative Disorders, Nervous System - metabolism | Central Nervous System Diseases - physiopathology | Astrocytes - metabolism
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2014, Volume 111, Issue 46, pp. 16496 - 16501
High temperature requirement protein A1 (HtrA1) is a primarily secreted serine protease involved in a variety of cellular processes including transforming... 
Nervous system diseases | Vascular diseases | HEK293 cells | Carrier proteins | Leukoencephalopathies | Fibroblasts | Blood vessels | Immunoblotting | Nervous system heredodegenerative disorders | Genetic mutation | ACTIVATION | MULTIDISCIPLINARY SCIENCES | CLEAVAGE | small vessel disease | LTBP-1 | FIBRONECTIN | SERINE-PROTEASE | EXTRACELLULAR-MATRIX | EXPRESSION | proteolysis | extracellular matrix | TGF-BETA-1 | INSIGHTS | Leukoencephalopathies - genetics | Spinal Diseases - metabolism | Spinal Diseases - genetics | Humans | Serine Endopeptidases - physiology | Mutation, Missense | Cerebral Infarction - genetics | Connective Tissue Growth Factor - biosynthesis | Recombinant Fusion Proteins - metabolism | Serpin E2 - biosynthesis | Brain - metabolism | RNA, Messenger - biosynthesis | Latent TGF-beta Binding Proteins - physiology | Cerebral Infarction - metabolism | Transfection | Alopecia - genetics | HEK293 Cells | Serine Endopeptidases - genetics | Fibroblasts - metabolism | Serine Endopeptidases - deficiency | Signal Transduction | RNA, Messenger - genetics | Cells, Cultured | Gene Expression Regulation | High-Temperature Requirement A Serine Peptidase 1 | Leukoencephalopathies - metabolism | Transforming Growth Factor beta1 - physiology | Fibronectins - metabolism | Mice, Knockout | Protein Interaction Mapping | Alopecia - metabolism | Latent TGF-beta Binding Proteins - genetics | Point Mutation | Serpin E2 - genetics | Animals | Protein Binding | Connective Tissue Growth Factor - genetics | Mice | Protein Processing, Post-Translational | Skin | Biological Sciences
Journal Article
The American Journal of Pathology, ISSN 0002-9440, 2001, Volume 158, Issue 2, pp. 515 - 526
Journal Article
Journal of Veterinary Internal Medicine, ISSN 0891-6640, 09/2016, Volume 30, Issue 5, pp. 1681 - 1689
Background Neurodegenerative diseases are a heterogeneous group of disorders characterized by loss of neurons and are commonly associated with a genetic... 
Axonopathy | Behavioral changes | Familial | Basal nuclei | DIAGNOSIS | CALCIUM-BINDING PROTEINS | NEUROAXONAL DYSTROPHY | TERRIER | DOGS | VETERINARY SCIENCES | NEURODEGENERATIVE DISEASES | Brain Diseases - veterinary | Genetic Predisposition to Disease | REM Sleep Behavior Disorder - veterinary | Heredodegenerative Disorders, Nervous System - pathology | Brain Diseases - genetics | Dog Diseases - genetics | Heredodegenerative Disorders, Nervous System - diagnosis | Male | Heredodegenerative Disorders, Nervous System - veterinary | REM Sleep Behavior Disorder - pathology | Dog Diseases - pathology | REM Sleep Behavior Disorder - genetics | Animals | Brain Diseases - pathology | Pedigree | Dogs | Female | Dog Diseases - diagnosis | Nervous system diseases | Sleep | Gene mutations | Neurons | Body image | Encephalopathy | Anxiety | Medical screening | Neuroimaging | Brain | Spinal cord | Nuclear magnetic resonance--NMR | Disease | Gait | Brain stem | Sleep (REM) | Rapid eye movement state | Cerebrospinal fluid | Eye movements | Aquatic birds | Substantia grisea | Nuclei | Necrosis | Stains & staining | Histopathology | Autopsy | Neurodegeneration | Ataxia | Population | Meningitis | Degeneration | Urine | Genetic disorders | Animal euthanasia | Young adults | Neurodegenerative diseases | Abnormalities | Medical treatment | Heredity | Genetic diversity | Behavior disorders | Empirical analysis | Hereditary diseases | Neurological diseases | Studies | Screening | Infectious diseases | Magnetic resonance imaging | Neurological complications | Dystrophy | Mutation | Standard | SMALL ANIMAL
Journal Article