Published in Skelet Muscle on February 09, 2011
Silencing disease genes in the laboratory and the clinic. J Pathol (2011) 1.72
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping. Hum Mol Genet (2012) 1.10
Progress in gene therapy of dystrophic heart disease. Gene Ther (2012) 0.96
Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy. Mol Ther (2012) 0.88
Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy. PLoS One (2014) 0.77
Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide. Proc Natl Acad Sci U S A (1978) 7.90
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51
The muscular dystrophies. Lancet (2002) 6.41
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med (2003) 4.03
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med (2006) 3.74
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles. Proc Natl Acad Sci U S A (2004) 3.34
Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol (2009) 3.01
Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice. Mol Ther (2008) 2.69
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide. J Gene Med (2006) 2.18
Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. Hum Mol Genet (1998) 2.07
Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer. Proc Natl Acad Sci U S A (2008) 2.06
Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol (2006) 1.99
Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle. Hum Mol Genet (2003) 1.88
Long-term improvement in mdx cardiomyopathy after therapy with peptide-conjugated morpholino oligomers. Cardiovasc Res (2009) 1.82
Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function. Hum Mol Genet (2008) 1.69
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med (2009) 1.66
Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum Gene Ther (2007) 1.63
Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse. Mol Ther (2007) 1.57
Improved cell-penetrating peptide-PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle. Nucleic Acids Res (2008) 1.52
Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholino. Gene Ther (2009) 1.52
Effective exon skipping and restoration of dystrophin expression by peptide nucleic acid antisense oligonucleotides in mdx mice. Mol Ther (2007) 1.48
Morpholinos and their peptide conjugates: therapeutic promise and challenge for Duchenne muscular dystrophy. Biochim Biophys Acta (2010) 1.47
Antisense, RNAi, and gene silencing strategies for therapy: mission possible or impossible? Drug Discov Today (2008) 1.37
A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice. Hum Mol Genet (2009) 1.34
Vitravene--another piece in the mosaic. Antisense Nucleic Acid Drug Dev (1998) 1.16
Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun (1996) 1.07
A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99
Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev (2002) 4.80
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. Hum Mol Genet (2006) 3.39
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06
Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov (2003) 2.32
Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes. Genome Biol (2010) 2.20
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. Nature (2012) 2.04
High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet (2007) 2.01
Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet (2006) 1.85
Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet (2003) 1.85
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet (2009) 1.76
Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat Rev Genet (2013) 1.70
Novel markers reveal subpopulations of subplate neurons in the murine cerebral cortex. Cereb Cortex (2008) 1.67
Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep (2004) 1.66
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet (2011) 1.56
Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle. Mol Biol Cell (2002) 1.44
Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol (2007) 1.39
Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration. J Cell Sci (2006) 1.34
Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther (2009) 1.31
Therapeutic approaches to muscular dystrophy. Hum Mol Genet (2011) 1.30
A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. J Neurosci (2003) 1.29
Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One (2011) 1.29
Identification and characterization of murine SCARA5, a novel class A scavenger receptor that is expressed by populations of epithelial cells. J Biol Chem (2006) 1.25
A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse. Proc Natl Acad Sci U S A (2007) 1.22
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet (2005) 1.21
Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. Hum Mol Genet (2010) 1.19
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther (2013) 1.16
Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci (2010) 1.14
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. PLoS Genet (2011) 1.13
ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Hum Mol Genet (2004) 1.12
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping. Hum Mol Genet (2012) 1.10
Identification of valid housekeeping genes for quantitative RT-PCR analysis of cardiosphere-derived cells preconditioned under hypoxia or with prolyl-4-hydroxylase inhibitors. Mol Biol Rep (2011) 1.10
The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet (2015) 1.08
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet (2004) 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
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain (2011) 1.08
Muscular dystrophy--reason for optimism? Cell (2002) 1.07
Dystrophin- and MLP-deficient mouse hearts: marked differences in morphology and function, but similar accumulation of cytoskeletal proteins. FASEB J (2004) 1.07
A- and B-utrophin have different expression patterns and are differentially up-regulated in mdx muscle. J Biol Chem (2002) 1.07
Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem (2007) 1.07
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain (2004) 1.06
Evaluating the links between schizophrenia and sleep and circadian rhythm disruption. J Neural Transm (Vienna) (2012) 1.05
A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration. Neuromuscul Disord (2004) 1.05
AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy. Mol Ther (2013) 1.03
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis (2009) 1.02
SNARE proteins and schizophrenia: linking synaptic and neurodevelopmental hypotheses. Acta Biochim Pol (2008) 1.02
Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem (2001) 1.00
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther (2009) 1.00
Abnormal cardiac morphology, function and energy metabolism in the dystrophic mdx mouse: an MRI and MRS study. J Mol Cell Cardiol (2008) 1.00
The role of utrophin in the potential therapy of Duchenne muscular dystrophy. Neuromuscul Disord (2002) 0.99
Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk. Hum Mol Genet (2009) 0.99
Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol (2009) 0.99
Utrophin up-regulation by an artificial transcription factor in transgenic mice. PLoS One (2007) 0.98
A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet (2008) 0.98
In vivo MRI characterization of progressive cardiac dysfunction in the mdx mouse model of muscular dystrophy. PLoS One (2012) 0.98
Discovery of 2-arylbenzoxazoles as upregulators of utrophin production for the treatment of Duchenne muscular dystrophy. J Med Chem (2011) 0.96
Progress in therapy for Duchenne muscular dystrophy. Exp Physiol (2011) 0.96
Disrupted circadian rhythms in a mouse model of schizophrenia. Curr Biol (2012) 0.96
Safety, tolerability, and pharmacokinetics of SMT C1100, a 2-arylbenzoxazole utrophin modulator, following single- and multiple-dose administration to healthy male adult volunteers. J Clin Pharmacol (2015) 0.95
Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Hum Mol Genet (2013) 0.93
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease. Mamm Genome (2007) 0.92
The allure of stem cell therapy for muscular dystrophy. Neuromuscul Disord (2007) 0.92
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. Hum Mol Genet (2003) 0.91
Mediation of Af4 protein function in the cerebellum by Siah proteins. Proc Natl Acad Sci U S A (2004) 0.90
Analysis of human neurological disorders using mutagenesis in the mouse. Clin Sci (Lond) (2005) 0.89
Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice. Hum Mol Genet (2009) 0.88
Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy. Mol Ther (2012) 0.88
A combined metabolomic and proteomic investigation of the effects of a failure to express dystrophin in the mouse heart. J Proteome Res (2008) 0.88
Behavioural characterisation of the robotic mouse mutant. Behav Brain Res (2007) 0.87
Intermediate filament-like protein syncoilin in normal and myopathic striated muscle. Neuromuscul Disord (2007) 0.86
The robotic mouse: understanding the role of AF4, a cofactor of transcriptional elongation and chromatin remodelling, in purkinje cell function. Cerebellum (2009) 0.86
Isolation and culture of motor neurons from the newborn mouse spinal cord. Brain Res Brain Res Protoc (2004) 0.86
Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy. Curr Gene Ther (2012) 0.86
Syncoilin upregulation in muscle of patients with neuromuscular disease. Muscle Nerve (2005) 0.85
Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum (2011) 0.85
AF4 is a critical regulator of the IGF-1 signaling pathway during Purkinje cell development. J Neurosci (2009) 0.85
Microarray analysis of mdx mice expressing high levels of utrophin: therapeutic implications for dystrophin deficiency. Neuromuscul Disord (2008) 0.84
Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. PLoS One (2011) 0.84
Is good housekeeping the key to motor neuron survival? Cell (2008) 0.83
Gene expression profiling studies on Caenorhabditis elegans dystrophin mutants dys-1(cx-35) and dys-1(cx18). Genomics (2006) 0.82
Muscular dystrophies related to the cytoskeleton/nuclear envelope. Novartis Found Symp (2005) 0.81
Syncoilin isoform organization and differential expression in murine striated muscle. J Struct Biol (2008) 0.81
Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol Cell Neurosci (2002) 0.80
The role of intermediate filament proteins in the development of neurological disease. Crit Rev Neurobiol (2007) 0.80
Syncoilin modulates peripherin filament networks and is necessary for large-calibre motor neurons. J Cell Sci (2010) 0.80
New insights into behaviour using mouse ENU mutagenesis. Hum Mol Genet (2012) 0.80
Analysis of skeletal muscle function in the C57BL6/SV129 syncoilin knockout mouse. Mamm Genome (2008) 0.80
Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit. Neuromuscul Disord (2004) 0.79
Syncoilin accumulation in two patients with desmin-related myopathy. Neuromuscul Disord (2003) 0.78
Spinal muscular atrophy at the crossroads of basic science and therapy. Neuromuscul Disord (2012) 0.78
Engineering U7snRNA gene to reframe transcripts. Methods Mol Biol (2012) 0.78
Preconditioning of Cardiosphere-Derived Cells With Hypoxia or Prolyl-4-Hydroxylase Inhibitors Increases Stemness and Decreases Reliance on Oxidative Metabolism. Cell Transplant (2015) 0.78
Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. Biochem Biophys Res Commun (2008) 0.78
Ets, Ap-1 and GATA factor families regulate the utrophin B promoter: potential regulatory mechanisms for endothelial-specific expression. FEBS Lett (2003) 0.77
Cardiac α-actin over-expression therapy in dominant ACTA1 disease. Hum Mol Genet (2013) 0.76
MLP accumulation and remodelling in the infarcted rat heart. Eur J Heart Fail (2005) 0.76
Engineering exon-skipping vectors expressing U7 snRNA constructs for Duchenne muscular dystrophy gene therapy. Methods Mol Biol (2011) 0.76
A new way to regulate the NMJ. Nat Med (2007) 0.76