Published in PLoS One on March 31, 2009
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Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. PLoS One (2011) 1.05
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A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice. Hum Mol Genet (2008) 0.86
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
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AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
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Abnormal myocardial deformation properties in obese, non-hypertensive children: an ambulatory blood pressure monitoring, standard echocardiographic, and strain rate imaging study. Eur Heart J (2006) 2.35
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Effect of dynamic myocardial dyssynchrony on mitral regurgitation during supine bicycle exercise stress echocardiography in patients with idiopathic dilated cardiomyopathy and 'narrow' QRS. Eur Heart J (2007) 2.25
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C-reactive protein is released in the coronary circulation and causes endothelial dysfunction in patients with acute coronary syndromes. Int J Cardiol (2011) 2.14
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors. J Virol (2007) 2.05
Effects of telmisartan added to Angiotensin-converting enzyme inhibitors on mortality and morbidity in hemodialysis patients with chronic heart failure a double-blind, placebo-controlled trial. J Am Coll Cardiol (2010) 1.90
Carvedilol increases two-year survivalin dialysis patients with dilated cardiomyopathy: a prospective, placebo-controlled trial. J Am Coll Cardiol (2003) 1.89
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology (2013) 1.85
Inappropriate exercise-induced increase in pulmonary artery pressure in patients with systemic sclerosis. Heart (2010) 1.61
Prolonged left ventricular twist in cardiomyopathies: a potential link between systolic and diastolic dysfunction. Eur J Echocardiogr (2011) 1.57
One-step treatment of patent ductus arteriosus and pulmonary artery stenosis by cardiac catheterization. Catheter Cardiovasc Interv (2003) 1.57
Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model. Proc Natl Acad Sci U S A (2006) 1.55
Left ventricular early myocardial dysfunction after chronic misuse of anabolic androgenic steroids: a Doppler myocardial and strain imaging analysis. Br J Sports Med (2006) 1.52
The human visual cortex responds to gene therapy-mediated recovery of retinal function. J Clin Invest (2011) 1.52
Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material. Hum Gene Ther (2010) 1.51
Influence of biventricular pacing on myocardial dispersion of repolarization in dilated cardiomyopathy patients. Europace (2006) 1.51
Pulmonary artery growth following arterial duct stenting in congenital heart disease with duct-dependent pulmonary circulation. Catheter Cardiovasc Interv (2009) 1.51
RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet (2007) 1.47
Use and efficacy of saline hydration and N-acetyl cysteine to prevent contrast-induced nephropathy in low-risk populations undergoing coronary artery angiography. Intern Emerg Med (2011) 1.45
Non sustained ventricular tachycardia in hypertrophic cardiomyopathy and new ultrasonic derived parameters. J Am Soc Echocardiogr (2010) 1.45
Versatility of AAV vectors for retinal gene transfer. Vision Res (2007) 1.44
Analysis of endothelin-1 and endothelin-1 receptor A gene polymorphisms in patients with pulmonary arterial hypertension. Intern Emerg Med (2011) 1.44
The incremental prognostic value of echocardiography in asymptomatic stage a heart failure. J Am Soc Echocardiogr (2010) 1.42
Visceral adiposity and arterial stiffness: echocardiographic epicardial fat thickness reflects, better than waist circumference, carotid arterial stiffness in a large population of hypertensives. Eur J Echocardiogr (2009) 1.41
Natural antisense transcripts associated with genes involved in eye development. Hum Mol Genet (2005) 1.40
Arterial duct stenting in low-weight newborns with duct-dependent pulmonary circulation. Catheter Cardiovasc Interv (2011) 1.40
Rapid ultrasound score as an indicator of atherosclerosis' clinical manifestations in a population of hypertensives: the interrelationship between flow-mediated dilatation of brachial artery, carotid intima thickness, renal resistive index and retina resistive index of central artery. Anadolu Kardiyol Derg (2013) 1.38
LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet A (2006) 1.37
Systemic but not intraocular Epo gene transfer protects the retina from light-and genetic-induced degeneration. Mol Ther (2004) 1.35
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J (2010) 1.35
BATS: a Bayesian user-friendly software for analyzing time series microarray experiments. BMC Bioinformatics (2008) 1.32
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myol (2012) 1.31
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol (2007) 1.29
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci U S A (2007) 1.25
Transcatheter closure of complex atrial septal defects: feasibility and mid-term results. J Cardiovasc Med (Hagerstown) (2006) 1.23
Range of right heart measurements in top-level athletes: the training impact. Int J Cardiol (2011) 1.22
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet (2006) 1.21
Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol Ther (2007) 1.21
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet (2007) 1.20
An atypical assessment of Ebstein's anomaly in an 86-year-old man. Monaldi Arch Chest Dis (2011) 1.18
Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum Genet (2002) 1.17
Long-term benefit of adeno-associated virus/antisense-mediated exon skipping in dystrophic mice. Hum Gene Ther (2008) 1.17
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet (2011) 1.16
Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res (2004) 1.16
AAV-mediated gene transfer for retinal diseases. Expert Opin Biol Ther (2006) 1.15
PEGylation of a vesicular stomatitis virus G pseudotyped lentivirus vector prevents inactivation in serum. J Virol (2004) 1.15
Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21. PLoS One (2011) 1.15
Restoration of deficient membrane proteins in the cardiomyopathic hamster by in vivo cardiac gene transfer. Circulation (2002) 1.14
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet (2007) 1.13
A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet (2009) 1.12
Chimeric adeno-associated virus/antisense U1 small nuclear RNA effectively rescues dystrophin synthesis and muscle function by local treatment of mdx mice. Hum Gene Ther (2006) 1.11
Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit. Prenat Diagn (2002) 1.10
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci (2012) 1.09
Right ventricular morphology and function in top-level athletes: a three-dimensional echocardiographic study. J Am Soc Echocardiogr (2012) 1.09
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol (2005) 1.08
Association between left ventricular structure and cardiac performance during effort in two morphological forms of athlete's heart. Int J Cardiol (2002) 1.07
Long-term inducible gene expression in the eye via adeno-associated virus gene transfer in nonhuman primates. Hum Gene Ther (2005) 1.07
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet A (2008) 1.07
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat (2008) 1.07
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One (2013) 1.07
Pulsed Doppler tissue imaging and myocardial function in thalassemia major. Heart Vessels (2003) 1.06
Association between left atrial myocardial function and exercise capacity in patients with either idiopathic or ischemic dilated cardiomyopathy: a two-dimensional speckle strain study. Int J Cardiol (2008) 1.06
Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet (2002) 1.06
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. Mol Ther (2010) 1.06
Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics (2009) 1.06
Dispersion of repolarization and beta-thalassemia major: the prognostic role of QT and JT dispersion for identifying the high-risk patients for sudden death. Eur J Haematol (2011) 1.06
Cardiovascular involvement in systemic autoimmune diseases. Autoimmun Rev (2008) 1.05
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet (2011) 1.05
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. PLoS One (2011) 1.05
Arterial stiffness and ventricular stiffness: a couple of diseases or a coupling disease? A review from the cardiologist's point of view. Eur J Echocardiogr (2008) 1.05
Effective delivery of large genes to the retina by dual AAV vectors. EMBO Mol Med (2013) 1.04
Different effects of cardiac resynchronization therapy on left atrial function in patients with either idiopathic or ischaemic dilated cardiomyopathy: a two-dimensional speckle strain study. Eur Heart J (2007) 1.04
Increased heterogenity of ventricular repolarization in obese nonhypertensive children. Pacing Clin Electrophysiol (2010) 1.04
Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor. Diabetes (2005) 1.04
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. Clin Chem (2011) 1.03