Published in Nat Genet on January 01, 2000
Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature (2008) 12.21
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet (2001) 4.50
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci (2009) 4.16
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol (2003) 3.40
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev (2010) 3.02
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol (2003) 2.94
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet (2008) 2.82
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci U S A (2000) 2.72
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One (2007) 2.70
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A (2003) 2.65
Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A (2001) 2.56
SMN interacts with a novel family of hnRNP and spliceosomal proteins. EMBO J (2001) 2.51
A functional interaction between the survival motor neuron complex and RNA polymerase II. J Cell Biol (2001) 2.44
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol (2006) 2.41
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes Dev (2005) 2.22
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis (2007) 2.10
Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. Genes Dev (2001) 2.03
Regulation of SMN protein stability. Mol Cell Biol (2008) 2.02
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet (2010) 1.89
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A (2004) 1.79
Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet (2008) 1.79
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol (2003) 1.75
Modeling spinal muscular atrophy in Drosophila. PLoS One (2008) 1.71
A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol (2001) 1.64
Therapeutics development for spinal muscular atrophy. NeuroRx (2006) 1.62
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet (2003) 1.52
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet (2009) 1.46
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol (2009) 1.46
Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 1.44
Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci (2012) 1.42
Motor neuron mitochondrial dysfunction in spinal muscular atrophy. Hum Mol Genet (2016) 1.41
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy. PLoS One (2012) 1.40
The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway. Mol Cell Biol (2002) 1.39
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet (2006) 1.31
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet (2009) 1.31
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet (2009) 1.30
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet (2006) 1.27
Regulation of constitutive and alternative splicing by PRMT5 reveals a role for Mdm4 pre-mRNA in sensing defects in the spliceosomal machinery. Genes Dev (2013) 1.27
The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol (2008) 1.27
Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. Brain Res (2012) 1.26
Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol (2011) 1.26
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet (2008) 1.26
Antisense-based therapy for the treatment of spinal muscular atrophy. J Cell Biol (2012) 1.25
Spinal muscular atrophy: new and emerging insights from model mice. Curr Neurol Neurosci Rep (2010) 1.21
Pharmacology of a central nervous system delivered 2'-O-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates. J Pharmacol Exp Ther (2014) 1.21
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results Probl Cell Differ (2009) 1.17
A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice. Hum Gene Ther (2013) 1.17
Stem cell technology for the study and treatment of motor neuron diseases. Regen Med (2011) 1.16
Intramuscular scAAV9-SMN injection mediates widespread gene delivery to the spinal cord and decreases disease severity in SMA mice. Mol Ther (2013) 1.16
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. Hum Mol Genet (2010) 1.15
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech (2011) 1.15
Survival motor neuron protein modulates neuron-specific apoptosis. Proc Natl Acad Sci U S A (2000) 1.14
Nuclear matrix factor hnRNP U/SAF-A exerts a global control of alternative splicing by regulating U2 snRNP maturation. Mol Cell (2012) 1.14
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Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun (2009) 1.12
Fast kinetics, high-frequency oscillations, and subprimary firing range in adult mouse spinal motoneurons. J Neurosci (2009) 1.11
Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. PLoS One (2010) 1.11
Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol (2007) 1.10
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Hum Mol Genet (2013) 1.09
Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models. Genes Dev (2015) 1.09
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. J Clin Invest (2014) 1.08
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet (2008) 1.08
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet (2008) 1.07
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest (2014) 1.06
Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One (2012) 1.03
Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene. J Biol Chem (2004) 1.03
Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn (2002) 1.03
Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol (2013) 1.01
A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy. J Neurosci Methods (2006) 1.00
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci U S A (2007) 0.99
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Hum Mol Genet (2012) 0.98
Antisense oligonucleotides and spinal muscular atrophy: skipping along. Genes Dev (2010) 0.98
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur J Hum Genet (2012) 0.96
Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy. Front Biosci (Landmark Ed) (2010) 0.96
Mouse models of SMA: tools for disease characterization and therapeutic development. Hum Genet (2012) 0.96
Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet (2012) 0.96
Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling. J Cell Biol (2011) 0.96
Antisense oligonucleotides for the treatment of spinal muscular atrophy. Hum Gene Ther (2013) 0.95
Splicing therapy for neuromuscular disease. Mol Cell Neurosci (2013) 0.95
Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve (2014) 0.95
Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene. Mol Neurodegener (2011) 0.94
Analysis of human small nucleolar RNAs (snoRNA) and the development of snoRNA modulator of gene expression vectors. Mol Biol Cell (2010) 0.94
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet (2011) 0.94
Spinal muscular atrophy: an update on therapeutic progress. Biochim Biophys Acta (2013) 0.93
Disease mechanisms and therapeutic approaches in spinal muscular atrophy. J Neurosci (2015) 0.92
Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Mol Biol Cell (2008) 0.92
A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PLoS One (2012) 0.92
Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy. Hum Genet (2000) 0.91
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. Neurogenetics (2009) 0.91
Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol (2009) 0.91
A comparison of three electrophysiological methods for the assessment of disease status in a mild spinal muscular atrophy mouse model. PLoS One (2014) 0.90
The spinal muscular atrophy disease protein SMN is linked to the Golgi network. PLoS One (2012) 0.90
Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. PLoS One (2013) 0.90
A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol (2015) 0.90
SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress. Cell Mol Neurobiol (2011) 0.90
Human stem cells as a model of motoneuron development and diseases. Ann N Y Acad Sci (2010) 0.89
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