Published in Sci Transl Med on March 02, 2011
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 4.04
RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov (2012) 3.70
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol (2013) 2.43
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther (2011) 2.20
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13
Targeting RNA to treat neuromuscular disease. Nat Rev Drug Discov (2011) 1.89
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology (2016) 1.84
Mechanisms and Regulation of Alternative Pre-mRNA Splicing. Annu Rev Biochem (2015) 1.59
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature (2015) 1.51
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci (2012) 1.44
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
Antisense reduction of tau in adult mice protects against seizures. J Neurosci (2013) 1.29
Antisense-based therapy for the treatment of spinal muscular atrophy. J Cell Biol (2012) 1.25
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat (2013) 1.23
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
Targeting RNA splicing for disease therapy. Wiley Interdiscip Rev RNA (2013) 1.17
A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice. Hum Gene Ther (2013) 1.17
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle (2014) 1.16
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech (2011) 1.15
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev Technol (2014) 1.13
Antisense oligonucleotides: treating neurodegeneration at the level of RNA. Neurotherapeutics (2013) 1.10
Call in the backup. Nat Med (2012) 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
Allele-selective inhibition of trinucleotide repeat genes. Drug Discov Today (2012) 1.08
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One (2012) 1.08
Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One (2011) 1.08
Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy. Mol Ther (2011) 1.07
Involvement of long noncoding RNAs in diseases affecting the central nervous system. RNA Biol (2012) 1.04
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
Exon identity crisis: disease-causing mutations that disrupt the splicing code. Genome Biol (2014) 1.02
Direct intraventricular delivery of drugs to the rodent central nervous system. J Vis Exp (2013) 1.01
Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol (2013) 1.01
A chemical view of oligonucleotides for exon skipping and related drug applications. Nucleic Acid Ther (2013) 1.00
Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. PLoS One (2013) 1.00
Spinal muscular atrophy. Orphanet J Rare Dis (2011) 1.00
The DcpS inhibitor RG3039 improves motor function in SMA mice. Hum Mol Genet (2013) 0.99
Defining the therapeutic window in a severe animal model of spinal muscular atrophy. Hum Mol Genet (2014) 0.97
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur J Hum Genet (2012) 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
Antisense oligonucleotides for the treatment of spinal muscular atrophy. Hum Gene Ther (2013) 0.95
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One (2012) 0.95
Peptide-mediated Cell and In Vivo Delivery of Antisense Oligonucleotides and siRNA. Mol Ther Nucleic Acids (2012) 0.95
Splicing therapy for neuromuscular disease. Mol Cell Neurosci (2013) 0.95
Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Hum Mol Genet (2014) 0.94
Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model. RNA Biol (2011) 0.93
Spinal muscular atrophy: an update on therapeutic progress. Biochim Biophys Acta (2013) 0.93
RNA splicing factors as oncoproteins and tumour suppressors. Nat Rev Cancer (2016) 0.92
A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PLoS One (2012) 0.92
New therapeutic approaches to spinal muscular atrophy. Curr Neurol Neurosci Rep (2012) 0.91
Synthetic CRISPR RNA-Cas9-guided genome editing in human cells. Proc Natl Acad Sci U S A (2015) 0.91
Manipulation of PK-M mutually exclusive alternative splicing by antisense oligonucleotides. Open Biol (2012) 0.91
Targeting RNA-splicing for SMA treatment. Mol Cells (2012) 0.91
SMN-inducing compounds for the treatment of spinal muscular atrophy. Future Med Chem (2012) 0.90
A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol (2015) 0.90
Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients. PLoS One (2014) 0.90
Collaboration for rare disease drug discovery research. F1000Res (2014) 0.89
SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA. Hum Mol Genet (2015) 0.89
Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Mol Med (2013) 0.88
Development of therapeutic splice-switching oligonucleotides. Hum Gene Ther (2014) 0.88
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. Eur J Hum Genet (2012) 0.87
Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response. Hum Mol Genet (2015) 0.86
Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. Ther Adv Neurol Disord (2013) 0.86
Dual masking of specific negative splicing regulatory elements resulted in maximal exon 7 inclusion of SMN2 gene. Mol Ther (2013) 0.86
Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy. Proc Natl Acad Sci U S A (2015) 0.85
Antisense oligonucleotide mediated therapy of spinal muscular atrophy. Transl Neurosci (2013) 0.85
Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). J Cell Mol Med (2014) 0.84
Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. EMBO Mol Med (2013) 0.84
Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain. Front Mol Neurosci (2011) 0.84
Applications of Cas9 as an RNA-programmed RNA-binding protein. Bioessays (2015) 0.84
TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals. Genes Dev (2012) 0.84
SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice. Hum Mol Genet (2015) 0.84
Splice-switching antisense oligonucleotides as therapeutic drugs. Nucleic Acids Res (2016) 0.84
Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. PLoS One (2014) 0.83
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases. Nucleic Acid Ther (2014) 0.83
Splicing modulation therapy in the treatment of genetic diseases. Appl Clin Genet (2014) 0.82
Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy. Neuromuscul Disord (2014) 0.82
Spinal muscular atrophy: from tissue specificity to therapeutic strategies. F1000Prime Rep (2015) 0.82
Advanced In vivo Use of CRISPR/Cas9 and Anti-sense DNA Inhibition for Gene Manipulation in the Brain. Front Genet (2016) 0.82
Therapeutic activity of modified U1 core spliceosomal particles. Nat Commun (2016) 0.81
Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA. Hum Mol Genet (2015) 0.81
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. Nucleic Acid Ther (2014) 0.81
The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy. Neurobiol Dis (2015) 0.80
Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches. Sci Rep (2015) 0.80
Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci (2015) 0.80
Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy. Mol Ther Nucleic Acids (2016) 0.79
RNA therapeutics: RNAi and antisense mechanisms and clinical applications. Postdoc J (2016) 0.78
Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy. Neurotherapeutics (2013) 0.78
Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Exp Neurol (2016) 0.78
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy. Transl Neurosci (2017) 0.77
Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake. EMBO Mol Med (2016) 0.77
Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy. Mol Ther (2016) 0.77
Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides. PLoS One (2016) 0.77
Structure/affinity studies in the bicyclo-DNA series: Synthesis and properties of oligonucleotides containing bc(en)-T and iso-tricyclo-T nucleosides. Beilstein J Org Chem (2014) 0.76
ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice. JCI Insight (2016) 0.76
Antisense Modulation of RNA Processing as a Therapeutic Approach in Cancer Therapy. Drug Discov Today Ther Strateg (2013) 0.76
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A (1999) 7.60
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet (2002) 5.80
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet (2005) 5.23
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet (1999) 5.09
RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform. Annu Rev Pharmacol Toxicol (2010) 4.86
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 4.62
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis (1996) 3.71
Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. Mol Ther (2009) 3.33
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet (2008) 3.24
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev (2010) 3.02
Antisense oligonucleotide therapy for neurodegenerative disease. J Clin Invest (2006) 3.00
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest (2010) 2.62
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
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol (2007) 2.29
Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain. Nature (1995) 2.21
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis (2007) 2.10
Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci Transl Med (2010) 2.02
Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann Neurol (2008) 2.01
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet (2010) 1.89
Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic Acids Res (2006) 1.84
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum Genet (2001) 1.81
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet (2010) 1.80
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A (2004) 1.79
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest (2004) 1.73
Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet (2010) 1.73
Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One (2009) 1.67
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci (2009) 1.64
Therapeutics development for spinal muscular atrophy. NeuroRx (2006) 1.62
Development of an ultrasensitive noncompetitive hybridization-ligation enzyme-linked immunosorbent assay for the determination of phosphorothioate oligodeoxynucleotide in plasma. Anal Biochem (2002) 1.57
Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet (2008) 1.57
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Hum Mol Genet (2009) 1.53
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
Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice. J Mol Med (Berl) (2008) 1.38
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest (2008) 1.37
Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci (2010) 1.32
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet (2009) 1.21
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. Hum Mol Genet (2009) 1.19
Medical considerations of long-term survival of Werdnig-Hoffmann disease. Am J Phys Med Rehabil (2007) 1.13
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain (2009) 1.11
Molecular mechanisms of spinal muscular atrophy. J Child Neurol (2007) 1.07
Spinal muscular atrophy. Neurotherapeutics (2008) 1.06
Quantitation of phosphorothioate oligonucleotides in human plasma. Anal Biochem (1996) 1.06
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev (2005) 1.02
Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet (2002) 16.29
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
miR-122 regulation of lipid metabolism revealed by in vivo antisense targeting. Cell Metab (2006) 12.41
The nuclear-retained noncoding RNA MALAT1 regulates alternative splicing by modulating SR splicing factor phosphorylation. Mol Cell (2010) 8.66
MicroRNA-143 regulates adipocyte differentiation. J Biol Chem (2004) 6.78
The gene encoding the splicing factor SF2/ASF is a proto-oncogene. Nat Struct Mol Biol (2007) 6.16
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci (2011) 6.01
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet (2002) 5.80
Regulating gene expression through RNA nuclear retention. Cell (2005) 5.58
The noncoding RNA MALAT1 is a critical regulator of the metastasis phenotype of lung cancer cells. Cancer Res (2012) 5.04
Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol (2013) 4.57
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet (2006) 4.56
Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis. Neuron (2012) 4.48
Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2. Genes Dev (2008) 4.24
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 4.04
Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol (2003) 3.75
RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov (2012) 3.70
Efficient reduction of target RNAs by small interfering RNA and RNase H-dependent antisense agents. A comparative analysis. J Biol Chem (2002) 3.32
Comprehensive splice-site analysis using comparative genomics. Nucleic Acids Res (2006) 3.30
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron (2013) 3.25
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet (2008) 3.24
The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism. Proc Natl Acad Sci U S A (2010) 3.08
SR proteins function in coupling RNAP II transcription to pre-mRNA splicing. Mol Cell (2007) 3.04
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev (2010) 3.02
Antisense oligonucleotide therapy for neurodegenerative disease. J Clin Invest (2006) 3.00
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A (2013) 2.95
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat Neurosci (2012) 2.93
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med (2013) 2.89
Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature (2012) 2.63
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest (2010) 2.62
The lncRNA Malat1 is dispensable for mouse development but its transcription plays a cis-regulatory role in the adult. Cell Rep (2012) 2.45
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol (2013) 2.43
Loss of erbB signaling in oligodendrocytes alters myelin and dopaminergic function, a potential mechanism for neuropsychiatric disorders. Proc Natl Acad Sci U S A (2007) 2.29
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol (2007) 2.29
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet (2005) 2.29
Manipulation of alternative splicing by a newly developed inhibitor of Clks. J Biol Chem (2004) 2.26
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. Mol Cell Proteomics (2008) 2.24
Prelamin A and lamin A appear to be dispensable in the nuclear lamina. J Clin Invest (2006) 2.23
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol (2011) 2.11
Nuclear export and retention signals in the RS domain of SR proteins. Mol Cell Biol (2002) 2.04
Hypoxia up-regulates expression of peroxisome proliferator-activated receptor gamma angiopoietin-related gene (PGAR) in cardiomyocytes: role of hypoxia inducible factor 1alpha. J Mol Cell Cardiol (2002) 2.02
Hypoxia-inducible factor-1 mediates activation of cultured vascular endothelial cells by inducing multiple angiogenic factors. Circ Res (2003) 2.00
Potent inhibition of microRNA in vivo without degradation. Nucleic Acids Res (2008) 1.98
Antisense oligonucleotides containing locked nucleic acid improve potency but cause significant hepatotoxicity in animals. Nucleic Acids Res (2006) 1.98
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A (2011) 1.90
The splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation. Nat Struct Mol Biol (2012) 1.88
Involvement of SR proteins in mRNA surveillance. Mol Cell (2004) 1.84
Mechanisms of single-stranded phosphorothioate modified antisense oligonucleotide accumulation in hepatocytes. Nucleic Acids Res (2011) 1.84
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther (2008) 1.82
Inhibiting glycosphingolipid synthesis improves glycemic control and insulin sensitivity in animal models of type 2 diabetes. Diabetes (2007) 1.82
Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin. Mol Ther (2011) 1.82
BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet (2002) 1.80
SF2/ASF autoregulation involves multiple layers of post-transcriptional and translational control. Nat Struct Mol Biol (2010) 1.78
A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). Genes Dev (2010) 1.77
CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression. Nat Biotechnol (2008) 1.73
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res (2007) 1.71
A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70
Identity, distribution, and development of polydendrocytes: NG2-expressing glial cells. J Neurocytol (2003) 1.70
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology (2003) 1.70
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res (2005) 1.70
Determinants of the inherent strength of human 5' splice sites. RNA (2005) 1.69
Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Res (2003) 1.66
Regulation of heterogenous nuclear ribonucleoprotein A1 transport by phosphorylation in cells stressed by osmotic shock. Proc Natl Acad Sci U S A (2005) 1.65
Preexisting immunity and low expression in primates highlight translational challenges for liver-directed AAV8-mediated gene therapy. Mol Ther (2010) 1.63
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab (2007) 1.61
A systematic review of matrix metalloproteinase 9 as a biomarker of survival in patients with osteosarcoma. Tumour Biol (2014) 1.58
Delivery of AAV-IGF-1 to the CNS extends survival in ALS mice through modification of aberrant glial cell activity. Mol Ther (2008) 1.57
Structure-activity relationship of heterobase-modified 2'-C-methyl ribonucleosides as inhibitors of hepatitis C virus RNA replication. J Med Chem (2004) 1.57
Pharmacokinetics of a tumor necrosis factor-alpha phosphorothioate 2'-O-(2-methoxyethyl) modified antisense oligonucleotide: comparison across species. Drug Metab Dispos (2003) 1.57
A splicing-independent function of SF2/ASF in microRNA processing. Mol Cell (2010) 1.55