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Journal Article
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
Nucleic Acids Research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. 395 - 416
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 297 - 315
Homozygous loss causes spinal muscular atrophy (SMA), the most common lethal genetic childhood motor neuron disease. encodes SMN, a ubiquitous housekeeping... 
incomplete penetrance | spinal muscular dystrophy | SMA | asymptomatic | SMN2 | endocytosis | PLS3 | SMN1 | genetic modifier | NCALD | neuronal sensor protein | SURVIVAL | MOTOR-NEURON GENE | NERVE-TERMINALS | MESSENGER-RNA | SMA PHENOTYPE | MOUSE MODEL | GENETICS & HEREDITY | LINKAGE ANALYSIS | PLASTIN 3 | PROTEINS | NEUROMUSCULAR-JUNCTIONS | Humans | Transcriptome | Male | Genetic Loci | Survival of Motor Neuron 2 Protein - metabolism | PC12 Cells | Motor Neurons - pathology | Muscular Atrophy, Spinal - genetics | Survival of Motor Neuron 2 Protein - genetics | Cloning, Molecular | Survival of Motor Neuron 1 Protein - genetics | Female | Endocytosis - genetics | Neurocalcin - genetics | Disease Models, Animal | Cell Line | Genome-Wide Association Study | Caenorhabditis elegans - genetics | Mice, Inbred C57BL | Gene Expression Regulation | Rats | Survival of Motor Neuron 1 Protein - metabolism | Zebrafish - genetics | Homozygote | Animals | Pedigree | Muscular Atrophy, Spinal - therapy | Neurocalcin - metabolism | Mice | Prevention | Endocytosis | Genetic aspects | Gene expression | Health aspects | Atrophy, Muscular | Physiological aspects | Research | Gene mutations | Risk factors | Spinal muscular atrophy | Musculoskeletal diseases | Genotype & phenotype | Protein expression | Genetic disorders | Neurons | Index Medicus
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 09/2010, Volume 30, Issue 36, pp. 12005 - 12019
Spinal muscular atrophy (SMA) is a common (similar to 1: 6400) autosomal recessive neuromuscular disorder caused by a paucity of the survival of motor neuron... 
LOCALIZATION | TERMINALS | PRODUCT | MOUSE MODEL | IN-VIVO | LEADS | RELEASE | IDENTIFICATION | NEUROSCIENCES | NEUROMUSCULAR-JUNCTIONS | SINGLE NUCLEOTIDE | Membrane Potentials - genetics | Age Factors | Synaptic Transmission - genetics | Humans | Gene Expression Regulation, Developmental - genetics | Nerve Degeneration - genetics | Synapses - pathology | Stem Cells - metabolism | Survival of Motor Neuron 2 Protein - metabolism | Choline O-Acetyltransferase - metabolism | Motor Neurons - pathology | Behavior, Animal | Muscular Atrophy, Spinal - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Survival of Motor Neuron 2 Protein - genetics | Isometric Contraction - physiology | Miniature Postsynaptic Potentials - genetics | Neuromuscular Junction - pathology | Disease Models, Animal | Animals, Newborn | Muscular Atrophy, Spinal - mortality | Muscular Atrophy, Spinal - metabolism | Receptors, Cholinergic - metabolism | Synapses - physiology | Kaplan-Meier Estimate | Mice, Transgenic | Oligodendrocyte Transcription Factor 2 | Mutation - genetics | Muscular Atrophy, Spinal - pathology | Motor Neurons - metabolism | Nerve Tissue Proteins - metabolism | Motor Activity - genetics | Patch-Clamp Techniques | Animals | Cell Count - methods | Analysis of Variance | Muscle, Skeletal - physiopathology | Luminescent Proteins - genetics | Mice | Muscle, Skeletal - pathology | Electromyography - methods | Index Medicus
Journal Article
Genes and Development, ISSN 0890-9369, 08/2010, Volume 24, Issue 15, pp. 1634 - 1644
Journal Article