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European Journal of Human Genetics, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 123 - 126
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality; it results from loss-of-function mutations in the... 
SURVIVAL | IGF-I | DISEASES | MULTIDISCIPLINARY SCIENCES | GROWTH | PHENOTYPE | MICE | CARDIAC DEFECTS | DELIVERY | Spinal Cord - metabolism | Longevity - drug effects | Humans | Glycoproteins - metabolism | RNA, Messenger - analysis | Survival of Motor Neuron 2 Protein - metabolism | Motor Neurons - pathology | Muscular Atrophy, Spinal - genetics | Spinal Cord - pathology | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | RNA Isoforms - analysis | Glycoproteins - deficiency | Spinal Cord - cytology | Transgenes | Muscular Atrophy, Spinal - physiopathology | Motor Neurons - drug effects | Disease Models, Animal | Animals, Newborn | Muscular Atrophy, Spinal - metabolism | Oligonucleotides, Antisense - pharmacology | RNA Isoforms - genetics | Growth Hormone - metabolism | Alternative Splicing - genetics | Liver - metabolism | RNA, Messenger - genetics | Kaplan-Meier Estimate | Insulin-Like Growth Factor I - deficiency | Mice, Transgenic | Muscular Atrophy, Spinal - pathology | Motor Neurons - metabolism | Rotarod Performance Test | Alternative Splicing - drug effects | Animals | Carrier Proteins - metabolism | Oligonucleotides, Antisense - genetics | Oligonucleotides, Antisense - administration & dosage | Mice | Insulin-Like Growth Factor I - metabolism | Complications and side effects | Care and treatment | Gene mutations | Patient outcomes | Genetic aspects | Infants | Research | Diagnosis | Risk factors | Spinal muscular atrophy | Gene expression | Medical research | Rodents | Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2014, Volume 124, Issue 4, pp. 1821 - 1834
Journal Article
Nature Biotechnology, ISSN 1087-0156, 03/2010, Volume 28, Issue 3, pp. 271 - 274
Journal Article
Journal Article
Science, ISSN 0036-8075, 4/2008, Volume 320, Issue 5875, pp. 524 - 527
Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood... 
Axons | Growth cones | Spinal cord | RNA | HEK293 cells | Neurons | Actins | Antibodies | Reports | Embryos | Siblings | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | SMN PROTEIN | IDENTIFICATION | DISEASE GENE-PRODUCT | DELETIONS | SEVERITY | RNA-Binding Proteins - genetics | Spinal Cord - metabolism | Actins - blood | Humans | Actins - metabolism | Male | Axons - physiology | Phosphoproteins - metabolism | Zebrafish - embryology | Actins - genetics | Muscular Atrophy, Spinal - genetics | Phosphoproteins - blood | Axons - ultrastructure | Female | Transcription, Genetic | Cell Differentiation | Membrane Glycoproteins | Cell Line | Gene Expression | Survival of Motor Neuron 1 Protein | Axons - metabolism | Phosphoproteins - genetics | SMN Complex Proteins | Nerve Tissue Proteins - genetics | Zebrafish - genetics | Nerve Tissue Proteins - metabolism | Cyclic AMP Response Element-Binding Protein - genetics | Animals | Growth Cones - metabolism | Growth Cones - ultrastructure | Microfilament Proteins | Pedigree | Cyclic AMP Response Element-Binding Protein - metabolism | Mice | RNA-Binding Proteins - metabolism | Motor neurons | Care and treatment | Genetic aspects | Binding proteins | Properties | Health aspects | Spinal muscular atrophy | Neuromuscular diseases | Genes | Rodents | Genetic research | Fish | Muscular system | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 647 - 665
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2011, Volume 20, Issue 4, pp. 681 - 693
Journal Article