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The Journal of Cell Biology, ISSN 0021-9525, 11/2003, Volume 163, Issue 4, pp. 801 - 812
Spinal muscular atrophy (SMA), a common autosomal recessive form of motoneuron disease in infants and young adults, is caused by mutations in the survival... 
Growth cones | Axons | Neurites | Messenger RNA | Neurons | Heterogeneous nuclear ribonucleoproteins | Cell lines | Actins | Antibodies | PC12 cells | β-actin | RNA transport | SMN | HnRNP R | SMA | SURVIVAL | GRY-RBP | hnRNP R | PROGRESSIVE-MOTOR-NEURONOPATHY | CYTOPLASMIC LOCALIZATION | beta-actin | BINDING PROTEIN | SNRNP BIOGENESIS | SINGLE NUCLEOTIDE | CELL-DEATH | CELL BIOLOGY | MOUSE MODEL | MISSENSE MUTATION | Spinal Cord - metabolism | Spinal Cord - growth & development | Nerve Tissue Proteins - deficiency | 3' Untranslated Regions - genetics | Cell Survival - genetics | Axons - physiology | RNA-Binding Proteins | RNA, Messenger - metabolism | PC12 Cells | Actins - genetics | Cell Differentiation - genetics | Motor Neurons - cytology | Spinal Cord - cytology | Cyclic AMP Response Element-Binding Protein | Disease Models, Animal | Nerve Tissue Proteins - physiology | Survival of Motor Neuron 1 Protein | Heterogeneous-Nuclear Ribonucleoproteins - metabolism | Rats | Mice, Transgenic | SMN Complex Proteins | Nerve Tissue Proteins - genetics | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Motor Neurons - metabolism | Animals | Growth Cones - metabolism | Growth Cones - ultrastructure | Mice | Muscular system | Cellular biology | Neurological disorders | SMN1 gene | spinal muscular atrophy | Smn protein | Heterogeneous-nuclear ribonucleoprotein R | Index Medicus | SMA; SMN; RNA transport; β-actin; hnRNP R
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1713 - 1722
Journal Article
Human Genetics, ISSN 0340-6717, 3/2019, Volume 138, Issue 3, pp. 241 - 256
Journal Article
PLOS ONE, ISSN 1932-6203, 07/2019, Volume 14, Issue 7, pp. e0220211 - e0220211
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2013, Volume 110, Issue 48, pp. 19348 - 19353
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2019, Volume 83, Issue 2, pp. 73 - 81
Methylation profiles of CpG islands within the SLC23A2 , CDK2AP1 , and DYNC1H1 genes and their association with spinal muscular atrophy (SMA) severity were... 
DNA methylation | DYNC1H1 | spinal muscular atrophy | gene | SMN | genetic modifier | DYNC1H1 gene | BIOMARKER | DISEASE SEVERITY | LEVEL | IDENTIFICATION | SINGLE NUCLEOTIDE | GENETICS & HEREDITY | SMN2 | ASSOCIATION | BLOOD | Genetic research | Methylation | Genes | Spinal muscular atrophy | Phenotypes | Genomes | Central pattern generator | CpG islands
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2017, Volume 114, Issue 8, pp. E1509 - E1518
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by progressive motor neuron loss and caused by mutations in SMN1 (Survival Motor... 
LncRNA | PRC2 | SMN | Spinal muscular atrophy | CELLS | lncRNA | PROTEIN | CHROMATIN | MULTIDISCIPLINARY SCIENCES | IDENTIFICATION | SINGLE NUCLEOTIDE | MOTOR-NEURON GENE | NONCODING RNAS | MOUSE MODEL | spinal muscular atrophy | EXPRESSION | SEVERITY | Epigenetics | Gene loci | Muscular system | Ribonucleic acid--RNA | Neurodegeneration | Medical treatment | Index Medicus | Biological Sciences | PNAS Plus
Journal Article