Published in Hum Gene Ther on October 01, 2014
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Uniform low-level dystrophin expression in the heart partially preserved cardiac function in an aged mouse model of Duchenne cardiomyopathy. J Mol Cell Cardiol (2016) 0.75
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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A (2008) 1.59
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Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. Mol Ther (2010) 1.48
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Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve (2014) 1.41
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Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Mol Ther (2010) 1.32
Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy. Dev Med Child Neurol (2013) 1.30
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics (2002) 1.30
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Codon and mRNA sequence optimization of microdystrophin transgenes improves expression and physiological outcome in dystrophic mdx mice following AAV2/8 gene transfer. Mol Ther (2008) 1.24
Early regional myocardial dysfunction in young patients with Duchenne muscular dystrophy. J Am Soc Echocardiogr (2008) 1.24
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Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle. Neuromuscul Disord (2003) 1.20
Physiological characterization of muscle strength with variable levels of dystrophin restoration in mdx mice following local antisense therapy. Mol Ther (2010) 1.20
Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging (2011) 1.19
Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol (2010) 1.18
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain (2011) 1.17
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Expression of opsin genes early in ocular development of humans and mice. Exp Eye Res (2003) 1.14
Characterization of the role of gamma2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome. Am J Physiol Heart Circ Physiol (2005) 1.14
Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx mice. Hum Mol Genet (2002) 1.13
Zebrafish melanopsin: isolation, tissue localisation and phylogenetic position. Brain Res Mol Brain Res (2002) 1.12
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa. Acta Derm Venereol (2012) 1.11
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11
Protective effects of heat shock protein 27 in a model of ALS occur in the early stages of disease progression. Neurobiol Dis (2007) 1.11
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol (2007) 1.10
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet (2009) 1.09
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In vivo fluorescence lifetime tomography of a FRET probe expressed in mouse. Biomed Opt Express (2011) 1.07
Heat shock protein 27 protects the heart against myocardial infarction. Basic Res Cardiol (2004) 1.06
Another cause of hyperglyceroluria: aquaporin 7 gene mutation. J Pediatr Gastroenterol Nutr (2013) 1.05
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Ann Neurol (2005) 1.04
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. Mol Ther (2009) 1.04
Hsp27 overexpression in the R6/2 mouse model of Huntington's disease: chronic neurodegeneration does not induce Hsp27 activation. Hum Mol Genet (2007) 1.03
Revertant mosaicism--patchwork in the skin. N Engl J Med (2009) 1.03
Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. PLoS Comput Biol (2012) 1.02
Heat shock protein 27 protects against atherogenesis via an estrogen-dependent mechanism: role of selective estrogen receptor beta modulation. Arterioscler Thromb Vasc Biol (2009) 1.02
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest (2010) 1.01
Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: results from a 12 month, double-blind, randomized placebo-controlled trial. Neuromuscul Disord (2011) 1.00
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol (2011) 0.99
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat (2014) 0.99
Metformin treatment has no beneficial effect in a dose-response survival study in the SOD1(G93A) mouse model of ALS and is harmful in female mice. PLoS One (2011) 0.98
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.98
Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord (2013) 0.97
Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy. Nucleic Acid Ther (2014) 0.97
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. J Biomed Biotechnol (2012) 0.97
Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol (2011) 0.96
ACTIVLIM: a Rasch-built measure of activity limitations in children and adults with neuromuscular disorders. Neuromuscul Disord (2007) 0.95
Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. PLoS One (2010) 0.95
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet (2010) 0.95
Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat (2009) 0.94
An IL-7 fusion protein that shows increased thymopoietic ability. J Immunol (2005) 0.94
Microbubble stability is a major determinant of the efficiency of ultrasound and microbubble mediated in vivo gene transfer. Ultrasound Med Biol (2009) 0.93
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat (2009) 0.92
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev (2011) 0.92
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics (2014) 0.92
Overexpression of heat shock protein 27 reduces cortical damage after cerebral ischemia. J Cereb Blood Flow Metab (2009) 0.92
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr (2013) 0.92
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid (2006) 0.91
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics (2013) 0.91
Association of CYP1B1 with hypersensitivity induced by taxane therapy in breast cancer patients. Breast Cancer Res Treat (2010) 0.90
CINRG pilot trial of oxatomide in steroid-naïve Duchenne muscular dystrophy. Eur J Paediatr Neurol (2007) 0.90
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr (2012) 0.89
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Hum Mol Genet (2013) 0.88
Structure and evolution of the teleost extraretinal rod-like opsin (errlo) and ocular rod opsin (rho) genes: is teleost rho a retrogene? J Exp Zool B Mol Dev Evol (2003) 0.88
Identification of a repressor in the first intron of the human alpha2(I) collagen gene (COL1A2). J Biol Chem (2005) 0.88
The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. PLoS One (2012) 0.87
Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse. Hum Mol Genet (2012) 0.87
Role of a 5'-enhancer in the transcriptional regulation of the human endothelial cell protein C receptor gene. Blood (2006) 0.87
The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus. FASEB J (2006) 0.87
Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. J Neuropathol Exp Neurol (2010) 0.86
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy. Hum Gene Ther (2012) 0.86
Cooperativity between far upstream enhancer and proximal promoter elements of the human {alpha}2(I) collagen (COL1A2) gene instructs tissue specificity in transgenic mice. J Biol Chem (2004) 0.86
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. Hum Genet (2004) 0.86
Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis (2007) 0.86
Electroporation for gene transfer to skeletal muscles: current status. BioDrugs (2004) 0.85
Heat shock protein 27 overexpression mitigates cytokine-induced islet apoptosis and streptozotocin-induced diabetes. Endocrinology (2009) 0.85
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. J Clin Invest (2012) 0.85
The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey. Genet Test (2008) 0.85
Natural gene therapy in dystrophic epidermolysis bullosa. Arch Dermatol (2011) 0.85