Barry Byrne, M.D.

Barry J Byrne, M.D., Ph.D.

(352) 294-5757

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Publications

Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy.
Muscle & nerve
2021

Gene delivery to the hypoglossal motor system: preclinical studies and translational potential.
Gene therapy
2021

Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Molecular therapy : the journal of the American Society of Gene Therapy
2021

Considerations for Systemic Use of Gene Therapy.
Molecular therapy : the journal of the American Society of Gene Therapy
2021

The CINRG Becker Natural History Study: Baseline characteristics.
Muscle & nerve
2020

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
Journal of neurology
2020

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Archives of disease in childhood
2020

Micro-dystrophin AAV Vectors Made by Transient Transfection and Herpesvirus System Are Equally Potent in Treating mdx Mouse Muscle Disease.
Molecular therapy. Methods & clinical development
2020

Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases.
Brain sciences
2020

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome.
Molecular genetics and metabolism reports
2020

Advancements in AAV-mediated Gene Therapy for Pompe Disease.
Journal of neuromuscular diseases
2020

Adeno-Associated Virus (AAV) Capsid Stability and Liposome Remodeling During Endo/Lysosomal pH Trafficking.
Viruses
2020

Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.
Human gene therapy
2019

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.
Neuromuscular disorders : NMD
2019

Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy.
Current gene therapy
2019

Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
Annals of translational medicine
2019

Neuromuscular Gene Therapy: Catching the Wave of Positive Early Studies Is Expected to Crest in Product Approvals.
Molecular therapy : the journal of the American Society of Gene Therapy
2019

Myocardial glucose and fatty acid metabolism is altered and associated with lower cardiac function in young adults with Barth syndrome.
Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
2019

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
JAMA neurology
2019

Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.
International journal of molecular sciences
2019

Dynamic respiratory muscle function in late-onset Pompe disease.
Scientific reports
2019

Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease.
Lung
2019

Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial.
Neurology
2019

Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.
Journal of inherited metabolic disease
2019

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.
Molecular therapy. Methods & clinical development
2019

AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.
Human gene therapy
2019

AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice.
Molecular therapy. Methods & clinical development
2019

Two-Year Longitudinal Changes in Lower Limb Strength and Its Relation to Loss in Function in a Large Cohort of Patients With Duchenne Muscular Dystrophy.
American journal of physical medicine & rehabilitation
2018

Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy.
PloS one
2018

Safety First: Perspective on Patient-Centered Development of AAV Gene Therapy Products.
Molecular therapy : the journal of the American Society of Gene Therapy
2018

Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.
JIMD reports
2018

Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies.
PloS one
2018

Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history.
Muscle & nerve
2018

Atomic structure of a rationally engineered gene delivery vector, AAV2.5.
Journal of structural biology
2018

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Muscle & nerve
2018

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.
Molecular neurobiology
2018

Sodium Chloride Enhances Recombinant Adeno-Associated Virus Production in a Serum-Free Suspension Manufacturing Platform Using the Herpes Simplex Virus System.
Human gene therapy methods
2017

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.
Human gene therapy. Clinical development
2017

Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.
Experimental neurology
2017

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome.
Physiological reports
2017

Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells.
Molecular therapy. Methods & clinical development
2017

Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study.
JIMD reports
2017

Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.
The Lancet. Child & adolescent health
2017

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.
Molecular therapy : the journal of the American Society of Gene Therapy
2017

Combination therapy for inhibitor reversal in haemophilia A using monoclonal anti-CD20 and rapamycin.
Thrombosis and haemostasis
2017

Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.
American journal of physiology. Lung cellular and molecular physiology
2017

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Orphanet journal of rare diseases
2017

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.
Neurology
2017

13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease.
Molecular therapy. Methods & clinical development
2017

Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors.
Human gene therapy. Clinical development
2016

Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
Physiological genomics
2016

Targeted approaches to induce immune tolerance for Pompe disease therapy.
Molecular therapy. Methods & clinical development
2016

Respiratory motor function in individuals with centronuclear myopathies.
Muscle & nerve
2016

Reply: Respiratory motor function in centronuclear myopathy.
Muscle & nerve
2016

Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice.
Respiratory physiology & neurobiology
2016

Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
Human molecular genetics
2016

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.
Annals of neurology
2016

Generation and characterization of anti-Adeno-associated virus serotype 8 (AAV8) and anti-AAV9 monoclonal antibodies.
Journal of virological methods
2016

Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series.
Physical therapy
2016

Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.
Human gene therapy
2016

An injectable capillary-like microstructured alginate hydrogel improves left ventricular function after myocardial infarction in rats.
International journal of cardiology
2016

Altered activation of the diaphragm in late-onset Pompe disease.
Respiratory physiology & neurobiology
2016

A scalable method for the production of high-titer and high-quality adeno-associated type 9 vectors using the HSV platform.
Molecular therapy. Methods & clinical development
2016

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.
Journal of neuromuscular diseases
2015

Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines.
American journal of respiratory cell and molecular biology
2015

Perspectives on best practices for gene therapy programs.
Human gene therapy
2015

Peripheral nerve and neuromuscular junction pathology in Pompe disease.
Human molecular genetics
2015

Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.
Plant biotechnology journal
2015

Gene Therapy: Strategies to Treat Motor Unit Dysfunction.
Journal of neuromuscular diseases
2015

Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning.
Human gene therapy. Clinical development
2015

Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome.
Journal of inherited metabolic disease
2015

Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease.
Annals of neurology
2015

Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice.
Molecular therapy. Methods & clinical development
2015

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.
Molecular therapy : the journal of the American Society of Gene Therapy
2015

BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease.
Clinical immunology (Orlando, Fla.)
2015

Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction.
Muscle & nerve
2015

Adeno-Associated Virus Type 2 and Hepatocellular Carcinoma?
Human gene therapy
2015

Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.
Human gene therapy
2014

Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice.
Molecular therapy : the journal of the American Society of Gene Therapy
2014

Selective Knockout of Acid Alpha-Glucosidase Gaa Gene Expression in the Medulla Alters Breathing
The FASEB's Journal
2014

New mechanistic and therapeutic targets for pediatric heart failure: report from a National Heart, Lung, and Blood Institute working group.
Circulation
2014

Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study.
PloS one
2014

Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
PloS one
2014

Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS.
Neurology
2014

Copackaging of multiple adeno-associated viral vectors in a single production step.
Human gene therapy methods
2014

Charting a clear path: the ASGCT Standardized Pathways Conference.
Molecular therapy : the journal of the American Society of Gene Therapy
2014

Acid Alpha-Glucosidase Gene Replacement Therapy To the Diaphragm Remodels Ventilatory Function in Severe Pompe Disease
The FASEB's Journal
2014

A simplified purification protocol for recombinant adeno-associated virus vectors.
Molecular therapy. Methods & clinical development
2014

Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases.
Molecular therapy : the journal of the American Society of Gene Therapy
2013

The respiratory neuromuscular system in Pompe disease.
Respiratory physiology & neurobiology
2013

The Importance of Targeting the Central Nervous System for Treatment of Respiratory Insufficiency in Pompe Disease
Molecular Genetics and Metabolism
2013

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome.
Journal of inherited metabolic disease
2013

Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy.
Radiology
2013

Restoration of the Motor and Behavior Phenotype With Aav9 in Aromatic L-Amino Acid Decarboxylase Deficiency Mice
Molecular Therapy
2013

Respiratory Function in a Canine Model of X-Linked Myotubular Myopathy Following Regional Limb Infusion With Recombinant Aav8-Mtm1
Molecular Therapy
2013

Preclinical toxicology and biodistribution studies of recombinant adeno-associated virus 1 human acid α-glucosidase.
Human gene therapy. Clinical development
2013

Pom-001 Phase 1/2 Study of Bmn 701, Gilt-Tagged Recombinant Human (Rh) Gaa in Late-Onset Pompe Disease: Initial Experience in 22 Patients
Molecular Genetics and Metabolism
2013

Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.
Human gene therapy
2013

Pathway for approval of a gene therapy orphan product: treading new ground.
Molecular therapy : the journal of the American Society of Gene Therapy
2013

One Year Outcomes of Diaphragm Gene Therapy in Ventilator Dependent Children With Pompe Disease
Molecular Genetics and Metabolism
2013

Magnetic Resonance Imaging and Spectroscopy To Evaluate Muscle Involvement in Pompe Disease
Molecular Genetics and Metabolism
2013

Magnetic Resonance Imaging and Spectroscopy Detect Changes With Age, Corticosteroid Treatment, and Functional Progression in Dmd
Neuromuscular Disorders
2013

Magnetic Resonance Imaging (Mri) To Evaluate the Effect of Enzyme Replacement Therapy in Late Onset Pompe Disease (Lopd)
Neuromuscular Disorders
2013

Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease.
Molecular therapy : the journal of the American Society of Gene Therapy
2013

Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice.
The Journal of biological chemistry
2013

Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012.
Human gene therapy
2013

Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients
Molecular Therapy
2013

Fatigue and Motor Gains in Children With Pompe Disease Undergoing Gene Replacement Therapy for Chronic Ventilatory Failure
Molecular Genetics and Metabolism
2013

Diaphragm Pacing Augments Ventilatory Function in Pompe Disease
Molecular Genetics and Metabolism
2013

Clinical Trial Readiness for Gene Replacement To the Diaphragm: Translational Respiratory Endpoints in Ventilator-Dependent Neuromuscular Diseases
Molecular Therapy
2013

B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.
The Journal of pediatrics
2013

B and T Cell Immunomodulation Attenuates Anaphylaxis in a Novel Mouse Model of Pompe Disease
Molecular Therapy
2013

Altered glycosylation of platelet-derived von Willebrand factor confers resistance to ADAMTS13 proteolysis.
Blood
2013

Adeno-associated virus-mediated gene therapy for metabolic myopathy.
Human gene therapy
2013

Acid Alpha-Glucosidase Gene Replacement Therapy To the Diaphragm in Ventilator-Dependent Pompe Disease: One-Year Respiratory Motor Outcomes
Molecular Therapy
2013

Aav9 Vector Encoding Hgaa Improves Synaptic Pathology of the Neuromuscular Junction in Pompe Disease
Neuromuscular Disorders
2013

A Phase 2a Study To Investigate Drug-Drug Interactions Between Escalating Doses of At2220 (Duvoglustat Hydrochloride) and Acid Alfa-Glucosidase in Subjects With Pompe Disease
Molecular Genetics and Metabolism
2013

Transient B cell depletion or improved transgene expression by codon optimization promote tolerance to factor VIII in gene therapy.
PloS one
2012

The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
American journal of medical genetics. Part A
2012

Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy.
Science translational medicine
2012

Structural insight into the unique properties of adeno-associated virus serotype 9.
Journal of virology
2012

Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice.
Molecular therapy : the journal of the American Society of Gene Therapy
2012

Signs of progress in gene therapy for muscular dystrophy also warrant caution.
Molecular therapy : the journal of the American Society of Gene Therapy
2012

Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9.
Human gene therapy methods
2012

Pom-001 Phase 1/2 Study of Bmn 701, Gilt-Tagged Recombinant Human (Rh) Gaa in Late-Onset Pompe Disease: Preliminary Report
Molecular Genetics and Metabolism
2012

Phase I/Ii Trial of Adeno-Associated Virus Acid-Alpha-Glucosidase (Aav-Gaa) Diaphragm Gene Therapy for Ventilatory Failure in Pompe Disease
Molecular Genetics and Metabolism
2012

Mapping the T helper cell response to acid α-glucosidase in Pompe mice.
Molecular genetics and metabolism
2012

MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy.
Neuromuscular disorders : NMD
2012

High Dose Rituximab Pretreatment in a New Human Cd2O-Gaa-/- Mouse Model Causes Complete B-Cell Depletion and Reduction in Effector and Memory T-Cell Activation
Molecular Genetics and Metabolism
2012

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Archives of ophthalmology (Chicago, Ill. : 1960)
2012

Gene therapy for aromatic L-amino acid decarboxylase deficiency.
Science translational medicine
2012

Gene therapy approaches for lysosomal storage disease: next-generation treatment.
Human gene therapy
2012

Diffuse Disease of the Myocardium: Radiologic-Pathologic Correlation
American Journal of Roentgenology
2012

Clinical Methods of Intramuscular Diaphragm Injections for Gene Therapy
Molecular Therapy
2012

Blunted Ventilatory Response To Central Nervous Stimulation in a Canine Model of X-Linked Myotubular Myopathy
Molecular Therapy
2012

An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery.
Genetic vaccines and therapy
2012

An Ongoing Phase 2a Study To Investigate the Effect of At2220 (Duvoglustat Hcl) On the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects With Pompe Disease: Preliminary Results
Journal of Inherited Metabolic Disease
2012

An Ongoing Phase 2a Study To Investigate the Effect of At2220 (Duvoglustat Hcl) On the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects With Pompe Disease: Preliminary Results
Journal of Inherited Metabolic Disease
2012

An Ongoing Phase 2a Study To Investigate Drug-Drug Interactions Between Escalating Doses of At2220 (Duvoglustat Hydrochloride) and Acid Alpha Glucosidase in Subjects With Pompe Disease - Preliminary Results
Neuromuscular Disorders
2012

An Injectable Acellular Capillary Hydrogel Improves Left Ventricular Function After Myocardial Infarction
Journal of the American College of Cardiology
2012

A new approach to winning: insulin-like growth factor-I signaling in competitive sport.
Human gene therapy
2012

A degradable, bioactive, gelatinized alginate hydrogel to improve stem cell/growth factor delivery and facilitate healing after myocardial infarction.
Medical hypotheses
2012

A Novel Phase 2a Study Design To Investigate Drug-Drug Interactions Between Escalating Doses of At2220 (Duvoglustat Hydrochloride) and Acid Alpha-Glucosidase in Subjects With Pompe Disease
Neuromuscular Disorders
2012

The Pompe Registry: Baseline Data From the First Five Years
Molecular Genetics and Metabolism
2011

The Heterogeneity of Pompe Disease: Early Data On Genotype From the Pompe Registry
Molecular Genetics and Metabolism
2011

Structural studies of adeno-associated virus serotype 8 capsid transitions associated with endosomal trafficking.
Journal of virology
2011

Raav1 Vector-Mediated Expression of Tafazzin in Patient Fibroblasts and Murine Model of Barth Syndrome
Molecular Therapy
2011

Prevention and Reversal of Antibody Responses Against Factor IX in Gene Therapy for Hemophilia B.
Frontiers in microbiology
2011

Pompe disease: design, methodology, and early findings from the Pompe Registry.
Molecular genetics and metabolism
2011

Pompe disease gene therapy.
Human molecular genetics
2011

Pompe Disease: Design, Methodology, and Early Findings From the Pompe Registry (Vol 103, Pg 1, 2011)
Molecular Genetics and Metabolism
2011

Next Generation Treatment of Pompe Disease Using Systemic Gene Transfer With Aav9
Molecular Genetics and Metabolism
2011

Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.
American journal of physiology. Heart and circulatory physiology
2011

Immune Modulation in Early Onset Pompe Disease
Molecular Genetics and Metabolism
2011

Hypoglossal neuropathology and respiratory activity in pompe mice.
Frontiers in physiology
2011

Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease.
Journal of biomedicine & biotechnology
2011

Effect of intracoronary delivery of autologous bone marrow mononuclear cells 2 to 3 weeks following acute myocardial infarction on left ventricular function: the LateTIME randomized trial.
JAMA
2011

Design of a Multi-Center Study To Examine Skeletal Muscles of Children With Duchenne Muscular Dystrophy Using Mri/Mrs
Neuromuscular Disorders
2011

Clinical Manifestations of Heterozygous Expression of a Mutation That Causes Glycogen Storage Disease Type Ia in Dogs
Journal of Veterinary Internal Medicine
2011

Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency.
Human gene therapy
2011

AAV6-mediated gene silencing fALS short.
Molecular therapy : the journal of the American Society of Gene Therapy
2011

AAV vectors for cardiac gene transfer: experimental tools and clinical opportunities.
Molecular therapy : the journal of the American Society of Gene Therapy
2011

A simple method to increase the transduction efficiency of single-stranded adeno-associated virus vectors in vitro and in vivo.
Human gene therapy
2011

Tracking Pompe Disease Symptoms in a Broad Patient Population Through the Pompe Registry: a Comparison Between Patients in the Asia-Pacific Region and the Rest of the World
Clinical Therapeutics
2010

The effect of DNA-dependent protein kinase on adeno-associated virus replication.
PloS one
2010

Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
Annals of neurology
2010

Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.
Circulation
2010

PRX-08066, a novel 5-hydroxytryptamine receptor 2B antagonist, reduces monocrotaline-induced pulmonary arterial hypertension and right ventricular hypertrophy in rats.
The Journal of pharmacology and experimental therapeutics
2010

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.
Texas Heart Institute journal
2010

Intramyocardial injection of autologous bone marrow mononuclear cells for patients with chronic ischemic heart disease and left ventricular dysfunction (First Mononuclear Cells injected in the US [FOCUS]): Rationale and design.
American heart journal
2010

Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease.
Molecular therapy : the journal of the American Society of Gene Therapy
2010

Expression of terminal alpha2-6-linked sialic acid on von Willebrand factor specifically enhances proteolysis by ADAMTS13.
Blood
2010

Diagnosis of Pompe Disease: Timing and Methods Used as Reported To the Pompe Registry
Clinical Therapeutics
2010

Clinical Signs and Symptoms of Pompe Disease in 143 Infantile-Onset and 424 Late-Onset Patients: a Report From the Pompe Registry
Clinical Therapeutics
2010

Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material.
Human gene therapy
2010

Anti-Cd20 To Control Antibody Formation Against Fviii in Gene and Protein Replacement Therapy
Blood
2010

An Exploratory Analysis of Scoliosis in 182 Children and Adults With Pompe Disease From the Pompe Registry
Clinical Therapeutics
2010

Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia.
Human gene therapy
2010

Vision 1 year after gene therapy for Leber's congenital amaurosis.
The New England journal of medicine
2009

Treatment Strategies for Pompe Disease: Lessons From Preclincal and Clinical Studies
Molecular Genetics and Metabolism
2009

Tolerance induction to cytoplasmic beta-galactosidase by hepatic AAV gene transfer: implications for antigen presentation and immunotoxicity.
PloS one
2009

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy.
Proceedings of the National Academy of Sciences of the United States of America
2009

Rationale and design for TIME: A phase II, randomized, double-blind, placebo-controlled pilot trial evaluating the safety and effect of timing of administration of bone marrow mononuclear cells after acute myocardial infarction.
American heart journal
2009

Rapid Raav-Mediated Improvement of Respiratory Function in An Animal Model of Pompe Disease
Molecular Therapy
2009

Psychosocial Functioning in Youth with Barth Syndrome.
Children's health care : journal of the Association for the Care of Children's Health
2009

Production, purification and preliminary X-ray crystallographic studies of adeno-associated virus serotype 9.
Acta crystallographica. Section F, Structural biology and crystallization communications
2009

Preclinical Toxicology and Biodistribution Studies of Recombinant Adeno-Associated Virus 1 (Ravv1) Human Acid Alpha-Flucosidase (Gaa) in Nzw Rabbits By Intrathoracic Direct Injection in the Diaphragm
Molecular Therapy
2009

Novel Adhesive Glove Device Use Results in Improved Intra-Arrest Hemodynamics and Post-Arrest Cardiac Function With Active Compression-Decompression Cpr in a Swine Model of Cardiac Arrest
Critical Care Medicine
2009

Neural deficits contribute to respiratory insufficiency in Pompe disease.
Proceedings of the National Academy of Sciences of the United States of America
2009

Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.
Annals of neurology
2009

Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies.
Human gene therapy
2009

Intracardiac foreign body in a dog.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2009

Innovative vector design: cross-packaged, self-complementary and now trans-splicing AAV vectors.
Human gene therapy
2009

Improved Brain Blood Flow During Acd-Cpr, Using a Novel Device for Active Chest Decompression in Swine Model of Cardiac Arrest
Circulation
2009

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Human gene therapy
2009

Development of An Improved Assay for Measuring Gaa Enzyme Activity in Ficoll-Isolated Peripheral Blood Mononuclear Cells
Molecular Genetics and Metabolism
2009

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics
2009

Clinical Signs and Symptoms of Pompe Disease in 120 Infantile-Onset and 373 Late-Onset Patients: a Report From the Pompe Registry
Molecular Genetics and Metabolism
2009

Analysis of regional congenital cardiac surgical outcomes in Florida using the Society of Thoracic Surgeons Congenital Heart Surgery Database.
Cardiology in the young
2009

Administration of Raav2/8 and Raav2/1 Vectors Mediates Sustained Correction of a Canine Model of Glycogen Storage Disease Type Ia
Molecular Therapy
2009

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.
Human gene therapy
2008

Tissue specific promoters improve specificity of AAV9 mediated transgene expression following intra-vascular gene delivery in neonatal mice.
Genetic vaccines and therapy
2008

The Pompe Registry: Tracking Pompe'S Disease Symptoms in a Broad Patient Population

2008

The Pompe Registry: Tracking Pompe Disease Symptoms in a Broad Patient Population
Neuromuscular Disorders
2008

The Pompe Registry: Centralized Data Collection To Track the Natural Course of Pompe Disease.
Molecular Genetics and Metabolism
2008

The Pompe Registry: Centralized Data Collection To Track the Natural Course of Pompe Disease.
Molecular Genetics and Metabolism
2008

Relative persistence of AAV serotype 1 vector genomes in dystrophic muscle.
Genetic vaccines and therapy
2008

Pharmacological Chaperone Therapy for Pompe Disease: Phase 1 Clinical Trials and Ex Vivo Response Study Results
Neuromuscular Disorders
2008

Identification of New Aav Vector Pseudotypes Suitable for Small Intestine and Colon Gene Transfer
Inflammatory Bowel Diseases
2008

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Proceedings of the National Academy of Sciences of the United States of America
2008

Gene delivery to intestinal epithelial cells in vitro and in vivo with recombinant adeno-associated virus types 1, 2 and 5.
Digestive diseases and sciences
2008

Clinical Response To Recombinant Acid Alpha-Glucosidase Is Predicted By Cardiac Outcome Measures in Children With Pompe Disease
Circulation
2008

Clinical Benefit of Treatment With Alglucosidase Alfa in Infants and Children With Advanced Pompe Disease
Clinical Therapeutics
2008

Apparently nonspecific enzyme elevations after portal vein delivery of recombinant adeno-associated virus serotype 2 vector in hepatitis C virus-infected chimpanzees.
Human gene therapy
2008

Alglucosidase Alpha in Infants and Children With Pompe'S Disease

2008

Alglucosidase Alfa in Infants and Children With Pompe Disease
Neuromuscular Disorders
2008

Alglucosidase Alfa (Myozyme (R)) in Infants and Children With Rapidly Progressive Pompe Disease
Clinical Therapeutics
2008

Alglucosidase Alea in Infants and Children With Pompe Disease
Journal of Inherited Metabolic Disease
2008

AAV-mediated knockdown of phospholamban leads to improved contractility and calcium handling in cardiomyocytes.
The journal of gene medicine
2008

Structure of adeno-associated virus serotype 8, a gene therapy vector.
Journal of virology
2007

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Neurology
2007

Preclinical characterization of a recombinant adeno-associated virus type 1-pseudotyped vector demonstrates dose-dependent injection site inflammation and dissemination of vector genomes to distant sites.
Human gene therapy
2007

Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors.
Molecular therapy : the journal of the American Society of Gene Therapy
2007

Long-term skeletal muscle protection after gene transfer in a mouse model of LGMD-2D.
Molecular therapy : the journal of the American Society of Gene Therapy
2007

Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo.
Circulation research
2006

Pompe disease diagnosis and management guideline.
Genetics in medicine : official journal of the American College of Medical Genetics
2006

Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults.
Human gene therapy
2006

Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer.
Gene therapy
2006

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics
2006

Cardiac and clinical phenotype in Barth syndrome.
Pediatrics
2006

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
Pediatric cardiology
2005

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.
Gene therapy
2005

Successful production of pseudotyped rAAV vectors using a modified baculovirus expression system.
Molecular therapy : the journal of the American Society of Gene Therapy
2005

Production, purification, crystallization and preliminary X-ray analysis of adeno-associated virus serotype 8.
Acta crystallographica. Section F, Structural biology and crystallization communications
2005

Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II.
Human gene therapy
2005

Herpesvirus-based infectious titering of recombinant adeno-associated viral vectors.
Molecular therapy : the journal of the American Society of Gene Therapy
2005

Expression of erythropoietin in cats treated with a recombinant adeno-associated viral vector.
American journal of veterinary research
2005

Biosynthesis of amphotericin derivatives lacking exocyclic carboxyl groups.
The Journal of biological chemistry
2005

Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Development (Cambridge, England)
2004

Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults.
Human gene therapy
2004

Noninvasive monitoring and tracking of muscle stem cell transplants.
Transplantation
2004

Non-invasive analysis of myoblast transplants in rodent cardiac muscle.
The international journal of cardiovascular imaging
2004

Inverted terminal repeat sequences of adeno-associated virus enhance the antibody and CD8(+) responses to a HIV-1 p55Gag/LAMP DNA vaccine chimera.
Virology
2004

Analysis and manipulation of amphotericin biosynthetic genes by means of modified phage KC515 transduction techniques.
Gene
2004

A new method for recombinant adeno-associated virus vector delivery to murine diaphragm.
Molecular therapy : the journal of the American Society of Gene Therapy
2004

HIV-1 p55Gag encoded in the lysosome-associated membrane protein-1 as a DNA plasmid vaccine chimera is highly expressed, traffics to the major histocompatibility class II compartment, and elicits enhanced immune responses.
The Journal of biological chemistry
2003

Dual vectors expressing murine factor VIII result in sustained correction of hemophilia A mice.
Human gene therapy
2003

Cell therapy in the heart: cell production, transplantation, and applications.
Methods in molecular biology (Clifton, N.J.)
2003

Biosynthesis of deoxyamphotericins and deoxyamphoteronolides by engineered strains of Streptomyces nodosus.
Chemistry & biology
2003

Adeno-associated virus mediated gene delivery into coronary microvessels of chronically instrumented dogs.
Journal of applied physiology (Bethesda, Md. : 1985)
2003

Virus-based gene delivery systems.
Clinical pharmacokinetics
2002

Uniform long-term gene expression using adeno-associated virus (AAV) by ex vivo recirculation in rat-cardiac isografts.
The Thoracic and cardiovascular surgeon
2002

Transduction of human and mouse pancreatic islet cells using a bicistronic recombinant adeno-associated viral vector.
Molecular therapy : the journal of the American Society of Gene Therapy
2002

Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
Human molecular genetics
2002

Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors.
Methods (San Diego, Calif.)
2002

Oxygen saturation as a screening test for critical congenital heart disease: a preliminary study.
Pediatric cardiology
2002

Improved method of recombinant AAV2 delivery for systemic targeted gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy
2002

Human mesenchymal stem cells differentiate to a cardiomyocyte phenotype in the adult murine heart.
Circulation
2002

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.
Molecular therapy : the journal of the American Society of Gene Therapy
2002

Adult hematopoietic stem cells provide functional hemangioblast activity during retinal neovascularization.
Nature medicine
2002

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Current molecular medicine
2002

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Human gene therapy
2001

Human melatonin regulation is not mediated by the three cone photopic visual system.
The Journal of clinical endocrinology and metabolism
2001

Forearm blood flow and local responses to peptide vasodilators: a novel pharmacodynamic measure in the phase I trial of antagonist G, a neuropeptide growth factor antagonist.
Clinical cancer research : an official journal of the American Association for Cancer Research
2001

Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Human molecular genetics
2001

CMV-beta-actin promoter directs higher expression from an adeno-associated viral vector in the liver than the cytomegalovirus or elongation factor 1 alpha promoter and results in therapeutic levels of human factor X in mice.
Human gene therapy
2001

Action spectrum for melatonin regulation in humans: evidence for a novel circadian photoreceptor.
The Journal of neuroscience : the official journal of the Society for Neuroscience
2001

Ultrasonographic evidence of a mushroom-shaped choroidal metastasis.
American journal of ophthalmology
2000

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
The EMBO journal
2000

Purification, crystallization and preliminary crystallographic studies of an integral membrane protein, cytochrome bo3 ubiquinol oxidase from Escherichia coli.
Acta crystallographica. Section D, Biological crystallography
2000

In vitro system to study realistic pulsatile flow and stretch signaling in cultured vascular cells.
American journal of physiology. Cell physiology
2000

Development and clinical evaluation of a recombinant-antigen-based cytomegalovirus immunoglobulin M automated immunoassay using the Abbott AxSYM analyzer.
Journal of clinical microbiology
2000

Sustained vessel dilation induced by increased pulsatile perfusion of porcine carotid arteries in vitro.
Acta physiologica Scandinavica
1999

Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield.
Gene therapy
1999

Myoblast cell grafting into heart muscle: cellular biology and potential applications.
Annual review of physiology
1999

High-titer recombinant adeno-associated virus production utilizing a recombinant herpes simplex virus type I vector expressing AAV-2 Rep and Cap.
Gene therapy
1999

Effective gene transfer in the rat myocardium via adenovirus vectors using a coronary recirculation model.
The Thoracic and cardiovascular surgeon
1999

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
The Journal of biological chemistry
1998

Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors.
Proceedings of the National Academy of Sciences of the United States of America
1998

In vivo murine left ventricular pressure-volume relations by miniaturized conductance micromanometry.
The American journal of physiology
1998

Expression of Legionella pneumophila virulence traits in response to growth conditions.
Infection and immunity
1998

Electroporation-mediated gene transfer in cardiac tissue.
FEBS letters
1998

Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
Gene therapy
1998

Recombinant adeno-associated virus type 2 replication and packaging is entirely supported by a herpes simplex virus type 1 amplicon expressing Rep and Cap.
Journal of virology
1997

Human small intestinal epithelial cells secrete interleukin-7 and differentially express two different interleukin-7 mRNA Transcripts: implications for extrathymic T-cell differentiation.
Human immunology
1997

Pulse pressure-related changes in coronary flow in vivo are modulated by nitric oxide and adenosine.
Circulation research
1996

Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein.
Proceedings of the National Academy of Sciences of the United States of America
1996

Mutation spectrum of 2-chloroethyl methanesulfonate in Drosophila melanogaster premeiotic germ cells.
Mutation research
1995

Abdominal pain as a presenting symptom of supraventricular tachycardia.
Clinical pediatrics
1995

Comparative cytologic yield and quality of three Pap smear instruments.
Family medicine
1993

Chicken vinculin and meta-vinculin are derived from a single gene by alternative splicing of a 207-base pair exon unique to meta-vinculin.
The Journal of biological chemistry
1992

Effects of green or white light for treatment of seasonal depression.
Psychiatry research
1991

Sleep patterns and dexamethasone suppression in nondepressed bulimics.
Biological psychiatry
1990

Effects of routine pupillary dilation on functional daylight vision.
Archives of ophthalmology (Chicago, Ill. : 1960)
1988

Mapping of the late promoter of simian virus 40.
Proceedings of the National Academy of Sciences of the United States of America
1984

Definition of the simian virus 40 early promoter region and demonstration of a host range bias in the enhancement effect of the simian virus 40 72-base-pair repeat.
Proceedings of the National Academy of Sciences of the United States of America
1983