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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2012, Volume 109, Issue 5, pp. 1661 - 1666
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 06/2010, Volume 113, Issue 5, pp. 1188 - 1199
J. Neurochem. (2010) 113, 1188–1199. The finding of a secretion pathway and toxicity for mutant superoxide dismutase 1 (SOD1) raised up the possibility of... 
passive immunization | misfolded SOD1 | monoclonal antibody | amyotrophic lateral sclerosis | superoxide dismutase 1 | immunotherapy | Amyotrophic lateral sclerosis | Misfolded SOD1 | Monoclonal antibody | Passive immunization | Immunotherapy | Superoxide dismutase 1 | ALZHEIMER-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMYOTROPHIC-LATERAL-SCLEROSIS | MOTOR-NEURON DISEASE | CLINICAL-FEATURES | NEUROSCIENCES | ETHICAL-ISSUES | INHERITED ALS | IMMUNIZATION | AMYLOID-BETA-PEPTIDE | ZN SUPEROXIDE-DISMUTASE | ANIMAL-MODEL | Immunohistochemistry | Superoxide Dismutase - genetics | Immunoprecipitation | Injections, Intraventricular | Superoxide Dismutase - antagonists & inhibitors | Antibodies, Monoclonal - therapeutic use | Amyotrophic Lateral Sclerosis - immunology | Immunoglobulins - pharmacology | Amyotrophic Lateral Sclerosis - therapy | Amyotrophic Lateral Sclerosis - genetics | Mice, Inbred C57BL | Mice, Transgenic | Epitopes - genetics | Blotting, Western | Disease Progression | Immunoglobulin Fab Fragments - pharmacology | Protein Folding | Metals - metabolism | Animals | Antibodies, Monoclonal - administration & dosage | Fluorescent Antibody Technique | Immunization, Passive | Mice | Mutation | Superoxide Dismutase-1 | Mortality | Monoclonal antibodies | Superoxide | Health aspects | Antigenic determinants | Rodents | Models
Journal Article
Journal Article
Molecular Brain, ISSN 1756-6606, 04/2017, Volume 10, Issue 1, pp. 13 - 13
Journal Article
The Journal of neuroscience : the official journal of the Society for Neuroscience, ISSN 0270-6474, 01/2019, Volume 39, Issue 4, pp. 663 - 677
Journal Article
Molecular Brain, ISSN 1756-6606, 03/2019, Volume 12, Issue 1, pp. 19 - 15
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS... 
SACS | Ataxia | Mouse model | Sacsin | ARSACS, Purkinje cell, cerebellum | DEFECTS | DOMAIN | NEUROSCIENCES | cerebellum | RECESSIVE SPASTIC ATAXIA | GENE | CHARLEVOIX-SAGUENAY | ARSACS | Purkinje cell | DYSFUNCTION | MUTATIONS | EXPRESSION | Nervous system diseases | Genetic aspects | Phenotypes | Neurodegenerative diseases | Preservation | Neurons | Kinases | Proteins | Genotype & phenotype | Missense mutation | Purkinje cells | Mutation | Bioinformatics | Age
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 12/2010, Volume 115, Issue 5, pp. 1102 - 1111
J. Neurochem. (2010) 115, 1102–1111. Recent studies provided evidence that chromogranins can interact with mutant superoxide dismutase 1 (SOD1) and that... 
mutant SOD1 | chromogranins | transgenic mice | amyotrophic lateral sclerosis | motor neuron | degeneration | Amyotrophic lateral sclerosis | Chromogranins | Degeneration | Motor neuron | Mutant SOD1 | Transgenic mice | MOTOR-NEURONS | CELLS | IMMUNOREACTIVITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTANT SUPEROXIDE-DISMUTASE | TRANSGENIC MODEL | NEUROSCIENCES | MICROGLIA | MICE | PROTEINS | PROGRESSION | Superoxide Dismutase - genetics | Amyotrophic Lateral Sclerosis - physiopathology | Humans | Male | Glial Fibrillary Acidic Protein - metabolism | Motor Neurons - pathology | Nerve Degeneration - metabolism | Spinal Cord - pathology | Thy-1 Antigens - genetics | Female | Chromogranin A - metabolism | Chromogranin A - genetics | Neuromuscular Junction - pathology | Disease Models, Animal | Immunoprecipitation - methods | Cell Survival | Gene Expression Regulation - genetics | Amyotrophic Lateral Sclerosis - genetics | Mice, Inbred C57BL | Mice, Transgenic | Mutation - genetics | Nerve Degeneration - pathology | Protein Folding | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Animals | Mice | Nerve Degeneration - etiology | Monoclonal antibodies | Neurosciences | Superoxide | Neurons | Proteins | Neurochemistry | Cellular biology | Pathogenesis | Rodents | Gene expression | Motor neurons | Animal models | Overexpression | Superoxide dismutase | Neuromodulation | Promoters
Journal Article
Molecular Brain, ISSN 1756-6606, 06/2019, Volume 12, Issue 1, pp. 59 - 10
Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy... 
RNA polymerase III | Myelination | Mouse model | POLR3A | POLR3B | Leukodystrophy | NEUROSCIENCES | RECESSIVE SPASTIC ATAXIA | SUBUNIT | Nervous system diseases | Genetic aspects | Biosynthesis | RNA | Cells
Journal Article
Journal Article
Journal Article
Nature Cell Biology, ISSN 1465-7392, 07/2004, Volume 6, Issue 7, pp. 595 - 608
Journal Article