Published in Mol Ther on May 01, 2002
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
Treatment of human disease by adeno-associated viral gene transfer. Hum Genet (2006) 1.84
Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci U S A (2009) 1.67
Pompe disease gene therapy. Hum Mol Genet (2011) 1.39
Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics (2008) 1.22
Adeno-associated virus vectors: potential applications for cancer gene therapy. Cancer Gene Ther (2005) 1.19
Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease. Mol Ther (2010) 1.17
Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy. Mol Ther (2008) 1.09
AAV vectors for cardiac gene transfer: experimental tools and clinical opportunities. Mol Ther (2011) 1.04
Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII. J Inherit Metab Dis (2007) 1.03
Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease. Mol Ther (2013) 0.99
Sexually dimorphic patterns of episomal rAAV genome persistence in the adult mouse liver and correlation with hepatocellular proliferation. Mol Ther (2009) 0.93
Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice. Mol Ther (2011) 0.91
Enhanced efficacy from gene therapy in Pompe disease using coreceptor blockade. Hum Gene Ther (2015) 0.90
An emerging adeno-associated viral vector pipeline for cardiac gene therapy. Hum Gene Ther (2013) 0.88
Preclinical toxicology and biodistribution studies of recombinant adeno-associated virus 1 human acid α-glucosidase. Hum Gene Ther Clin Dev (2013) 0.84
Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice. Mol Ther Methods Clin Dev (2015) 0.83
BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease. Clin Immunol (2015) 0.82
Progress and problems when considering gene therapy for GSD-II. Acta Myol (2007) 0.81
Adeno-associated virus-mediated gene therapy for metabolic myopathy. Hum Gene Ther (2013) 0.80
The Skeletal Muscle Environment and Its Role in Immunity and Tolerance to AAV Vector-Mediated Gene Transfer. Curr Gene Ther (2015) 0.80
Adipocytes as a vehicle for ex vivo gene therapy: Novel replacement therapy for diabetes and other metabolic diseases. J Diabetes Investig (2011) 0.79
Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease. Hum Gene Ther (2016) 0.78
Targeted approaches to induce immune tolerance for Pompe disease therapy. Mol Ther Methods Clin Dev (2016) 0.77
Preclinical Development of New Therapy for Glycogen Storage Diseases. Curr Gene Ther (2015) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Rapid disuse atrophy of diaphragm fibers in mechanically ventilated humans. N Engl J Med (2008) 8.88
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
Human mesenchymal stem cells differentiate to a cardiomyocyte phenotype in the adult murine heart. Circulation (2002) 7.97
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A (2008) 7.16
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors. Methods (2002) 5.30
A 1-year randomized trial of calcium acetate versus sevelamer on progression of coronary artery calcification in hemodialysis patients with comparable lipid control: the Calcium Acetate Renagel Evaluation-2 (CARE-2) study. Am J Kidney Dis (2008) 3.93
Next generation of adeno-associated virus 2 vectors: point mutations in tyrosines lead to high-efficiency transduction at lower doses. Proc Natl Acad Sci U S A (2008) 3.84
Adult hematopoietic stem cells provide functional hemangioblast activity during retinal neovascularization. Nat Med (2002) 3.81
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol (2009) 3.69
Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo. Circ Res (2006) 3.63
Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy. Proc Natl Acad Sci U S A (2009) 3.58
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med (2016) 3.40
Cardiorenal interactions: insights from the ESCAPE trial. J Am Coll Cardiol (2008) 3.35
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
Mechanical ventilation-induced diaphragmatic atrophy is associated with oxidative injury and increased proteolytic activity. Am J Respir Crit Care Med (2002) 2.99
Calcium upregulation by percutaneous administration of gene therapy in cardiac disease (CUPID Trial), a first-in-human phase 1/2 clinical trial. J Card Fail (2009) 2.89
Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57
Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell (2003) 2.55
beta-Adrenergic receptor polymorphisms and responses during titration of metoprolol controlled release/extended release in heart failure. Clin Pharmacol Ther (2005) 2.20
Design of a phase 1/2 trial of intracoronary administration of AAV1/SERCA2a in patients with heart failure. J Card Fail (2008) 2.09
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol (2010) 2.02
Characterization and prognostic value of persistent hyponatremia in patients with severe heart failure in the ESCAPE Trial. Arch Intern Med (2007) 1.98
Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol. Clin Pharmacol Ther (2003) 1.96
Xanthine oxidase contributes to mechanical ventilation-induced diaphragmatic oxidative stress and contractile dysfunction. J Appl Physiol (1985) (2008) 1.92
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol (2006) 1.92
Mechanical ventilation results in progressive contractile dysfunction in the diaphragm. J Appl Physiol (1985) (2002) 1.89
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther (2006) 1.88
Both high level pressure support ventilation and controlled mechanical ventilation induce diaphragm dysfunction and atrophy. Crit Care Med (2012) 1.87
Trolox attenuates mechanical ventilation-induced diaphragmatic dysfunction and proteolysis. Am J Respir Crit Care Med (2004) 1.85
Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults. Hum Gene Ther (2006) 1.83
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med (2002) 1.82
Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells. J Exp Med (2002) 1.78
High-efficiency transduction and correction of murine hemophilia B using AAV2 vectors devoid of multiple surface-exposed tyrosines. Mol Ther (2010) 1.78
Caspase-3 regulation of diaphragm myonuclear domain during mechanical ventilation-induced atrophy. Am J Respir Crit Care Med (2006) 1.70
Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci U S A (2009) 1.67
Activation of the endoplasmic reticulum stress response in autoimmune myositis: potential role in muscle fiber damage and dysfunction. Arthritis Rheum (2005) 1.67
Validation of manual muscle testing and a subset of eight muscles for adult and juvenile idiopathic inflammatory myopathies. Arthritis Care Res (Hoboken) (2010) 1.65
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol (2008) 1.65
Nuclear factor-κB signaling contributes to mechanical ventilation-induced diaphragm weakness*. Crit Care Med (2012) 1.64
Cardiac and clinical phenotype in Barth syndrome. Pediatrics (2006) 1.61
Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand... Autophagy (2007) 1.60
Autophagy in lysosomal storage disorders. Autophagy (2012) 1.59
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther (2005) 1.59
The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris. Sci Signal (2014) 1.58
The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver. Blood (2011) 1.56
Autophagy and lysosomes in Pompe disease. Autophagy (2006) 1.54
Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults. Hum Gene Ther (2004) 1.54
Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012. Hum Gene Ther (2013) 1.54
N-Acetylcysteine protects the rat diaphragm from the decreased contractility associated with controlled mechanical ventilation. Crit Care Med (2011) 1.54
Mechanical ventilation reduces rat diaphragm blood flow and impairs oxygen delivery and uptake. Crit Care Med (2012) 1.53
Oxidative stress is required for mechanical ventilation-induced protease activation in the diaphragm. J Appl Physiol (1985) (2010) 1.53
Beta1-adrenergic receptor polymorphisms and left ventricular remodeling changes in response to beta-blocker therapy. Pharmacogenet Genomics (2005) 1.53
Phosphofructokinase deficiency; past, present and future. Curr Mol Med (2002) 1.52
LateTIME: a phase-II, randomized, double-blinded, placebo-controlled, pilot trial evaluating the safety and effect of administration of bone marrow mononuclear cells 2 to 3 weeks after acute myocardial infarction. Tex Heart Inst J (2010) 1.52
Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material. Hum Gene Ther (2010) 1.51
Mechanical ventilation depresses protein synthesis in the rat diaphragm. Am J Respir Crit Care Med (2004) 1.50
Mechanical ventilation induces diaphragmatic mitochondrial dysfunction and increased oxidant production. Free Radic Biol Med (2009) 1.50
Mechanical ventilation-induced oxidative stress in the diaphragm. J Appl Physiol (1985) (2003) 1.47
Mitochondrial-targeted antioxidants protect skeletal muscle against immobilization-induced muscle atrophy. J Appl Physiol (1985) (2011) 1.46
Comparison of dobutamine versus milrinone therapy in hospitalized patients awaiting cardiac transplantation: a prospective, randomized trial. Am Heart J (2003) 1.45
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med (2013) 1.44
The slow cardiac myosin regulatory light chain in heart failure. Clin Cardiol (2011) 1.43
QRS duration variability in patients with heart failure. Am J Cardiol (2002) 1.42
Sustained restoration of autonomic balance with long- but not short-acting metoprolol in patients with heart failure. J Card Fail (2006) 1.41
Pompe disease gene therapy. Hum Mol Genet (2011) 1.39
Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1, and -DQA1 allelic profiles distinguish European American patients with different myositis autoantibodies. Medicine (Baltimore) (2006) 1.39
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease. Autophagy (2010) 1.38
Cardiac overexpression of angiotensin converting enzyme 2 protects the heart from ischemia-induced pathophysiology. Hypertension (2008) 1.37
Transcriptional pathways associated with skeletal muscle disuse atrophy in humans. Physiol Genomics (2007) 1.35
Mechanical ventilation induces alterations of the ubiquitin-proteasome pathway in the diaphragm. J Appl Physiol (1985) (2004) 1.34
Safety of local delivery of low- and intermediate-dose adenovirus gene transfer vectors to individuals with a spectrum of morbid conditions. Hum Gene Ther (2002) 1.33
Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors. Mol Ther (2007) 1.31
Successful production of pseudotyped rAAV vectors using a modified baculovirus expression system. Mol Ther (2005) 1.30
Improved method of recombinant AAV2 delivery for systemic targeted gene therapy. Mol Ther (2002) 1.29
Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies. Hum Gene Ther (2009) 1.26
Apocynin attenuates diaphragm oxidative stress and protease activation during prolonged mechanical ventilation. Crit Care Med (2009) 1.26
Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem J (2005) 1.24
Age-related differences in lower-limb muscle cross-sectional area and torque production in boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil (2010) 1.24
Effects of quercetin and EGCG on mitochondrial biogenesis and immunity. Med Sci Sports Exerc (2009) 1.23
Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. Radiology (2013) 1.22