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Journal of Clinical Investigation, ISSN 0021-9738, 03/2019, Volume 129, Issue 3, p. 915
Journal Article
Annual Review of Medicine, ISSN 0066-4219, 1/2019, Volume 70, Issue 1, pp. 307 - 321
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
Journal Article
Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 890 - 897
OBJECTIVE:To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense... 
PUNCTURE HEADACHE | ANTISENSE OLIGONUCLEOTIDE | FUNCTIONAL MOTOR SCALE | CLINICAL NEUROLOGY | Injections, Spinal | Muscular Atrophy, Spinal - diagnosis | Follow-Up Studies | Humans | Child, Preschool | Male | Dose-Response Relationship, Drug | Adolescent | Female | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Child | Cohort Studies | 324 | 117 | 227 | 252
Journal Article
Nature, ISSN 0028-0836, 02/2015, Volume 518, Issue 7539, pp. 409 - 412
Journal Article
Molecular Cell, ISSN 1097-2765, 09/2010, Volume 39, Issue 6, pp. 925 - 938
Journal Article
Nature, ISSN 0028-0836, 08/2012, Volume 488, Issue 7409, pp. 111 - 115
Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases that involve RNA or protein gain-of-function effects. In the hereditary... 
CTG REPEAT | 3' END | PROTEIN | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | TOXIC RNA | MODIFIED ANTISENSE OLIGONUCLEOTIDE | PHOSPHOROTHIOATE OLIGONUCLEOTIDES | MOUSE MODELS | TRINUCLEOTIDE REPEAT | Humans | Muscle, Skeletal - metabolism | RNA, Messenger - metabolism | RNA, Untranslated - genetics | Gene Knockdown Techniques | RNA - genetics | Myotonic Dystrophy - pathology | Base Sequence | Muscle, Skeletal - drug effects | Oligonucleotides, Antisense - therapeutic use | RNA, Messenger - antagonists & inhibitors | Mice, Inbred mdx | Myotonic Dystrophy - genetics | Disease Models, Animal | RNA - metabolism | Oligonucleotides, Antisense - pharmacology | Myotonin-Protein Kinase | RNA - antagonists & inhibitors | Mice, Inbred C57BL | RNA, Messenger - genetics | Gene Silencing | Protein-Serine-Threonine Kinases - genetics | Mice, Transgenic | Myotonic Dystrophy - therapy | Transcriptome - drug effects | Transcriptome - genetics | Myotonic Dystrophy - physiopathology | Animals | Oligonucleotides, Antisense - genetics | Cell Nucleus - genetics | RNA, Long Noncoding | Alleles | Trinucleotide Repeat Expansion - genetics | Mice | Mice, Inbred BALB C | Cell Nucleus - drug effects | Ribonuclease H - metabolism | Myotonic dystrophy | RNA | Oligonucleotides | Physiological aspects | Development and progression | Genetic aspects | Health aspects
Journal Article