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Nature, ISSN 0028-0836, 10/2015, Volume 526, Issue 7575, pp. 710 - 714
Journal Article
Neuron, ISSN 0896-6273, 2006, Volume 51, Issue 6, pp. 715 - 726
Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is caused by dominant point mutations in the gene encoding glycyl tRNA... 
RNA | HUMDISEASE | MOLNEURO | HEREDITARY MOTOR | CMT2D | DISEASE TYPE 2D | GENE MUTATION | MICE | MECHANISMS | AMYOTROPHIC-LATERAL-SCLEROSIS | SCHWANN-CELLS | TRANSLATION | NEUROSCIENCES | ATROPHY TYPE-V | Neuromuscular Junction - metabolism | Charcot-Marie-Tooth Disease - enzymology | Humans | Molecular Sequence Data | Glycine-tRNA Ligase - genetics | Male | Sciatic Nerve - ultrastructure | Charcot-Marie-Tooth Disease - genetics | Sciatic Nerve - metabolism | Charcot-Marie-Tooth Disease - classification | Base Sequence | Axons - ultrastructure | Female | Peripheral Nervous System Diseases - pathology | Peripheral Nervous System Diseases - genetics | Neuromuscular Junction - pathology | Disease Models, Animal | Amino Acid Sequence | Microscopy, Electron, Transmission | Sciatic Nerve - pathology | Mice, Inbred C57BL | Axons - metabolism | Peripheral Nervous System Diseases - enzymology | Chromosome Mapping | Glycine-tRNA Ligase - metabolism | Mutation - genetics | Neuromuscular Junction - physiopathology | Sequence Homology, Amino Acid | Animals | Axons - pathology | Mice | Mice, Inbred BALB C | Genes, Dominant - genetics | Protein biosynthesis | Genetic aspects | Gene mutations | Ligases | Neurons | Transfer RNA | Proteins | Enzymes | Genotype & phenotype | Neurosciences | Mutagenesis | Genes | Amino acids | Genomes | Mutation | Chromosomes | Index Medicus
Journal Article
2018
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by widespread loss of lower motor neurons from the spinal cord.... 
motor nerve degeneration | pathway changes | Charcot-Marie-Tooth disease type 2D | SMA | CMT2D | spinal muscular atrophy | UBA1 | GARS | ubiquitin-like modifier-activating enzyme 1
Dissertation
Journal of the Neurological Sciences, ISSN 0022-510X, 2007, Volume 263, Issue 1, pp. 100 - 106
Journal Article
Animal Cells and Systems, ISSN 1976-8354, 11/2015, Volume 19, Issue 6, pp. 359 - 364
Journal Article
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