Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

Immune responses to AAV vectors: overcoming barriers to successful gene therapy

(2013) F. Mingozzi et al.   BLOOD

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

(2013) Romain Joubert et al.   HUMAN MOLECULAR GENETICS

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

(2013) Michael W. Lawlor et al.   HUMAN MOLECULAR GENETICS

AAV Genome Loss From Dystrophic Mouse Muscles During AAV-U7 snRNA-mediated Exon-skipping Therapy

(2013) Maëva Le Hir et al.   MOLECULAR THERAPY

Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer

(2012) G. Buchlis et al.   BLOOD

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C

(2012) Serge Herson et al.   BRAIN

Gene Therapy Approaches for Lysosomal Storage Disease: Next-Generation Treatment

(2012) Barry J. Byrne et al.   HUMAN GENE THERAPY

Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

Successful Regional Delivery and Long-term Expression of a Dystrophin Gene in Canine Muscular Dystrophy: A Preclinical Model for Human Therapies

(2012) Zejing Wang et al.   MOLECULAR THERAPY

Muscle function in A canine model of X-linked myotubular myopathy

(2012) Robert W. Grange et al.   MUSCLE & NERVE

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

(2011) Christopher R. Pierson et al.   HUMAN MOLECULAR GENETICS

Therapeutic approaches to muscular dystrophy

(2011) A. Goyenvalle et al.   HUMAN MOLECULAR GENETICS

Safety and Feasibility of High-pressure Transvenous Limb Perfusion With 0.9% Saline in Human Muscular Dystrophy

(2011) Zheng Fan et al.   MOLECULAR THERAPY

Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector

(2011) Dawn E Bowles et al.   MOLECULAR THERAPY

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Establishing Clinical End Points of Respiratory Function in Large Animals for Clinical Translation

(2011) Melissa A. Goddard et al.   Physical Medicine and Rehabilitation Clinics of North America

Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D

(2010) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Peripheral transvenular delivery of adeno-associated viral vectors to skeletal muscle as a novel therapy for hemophilia B

(2010) V. R. Arruda et al.   BLOOD

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

Dystrophin Immunity in Duchenne's Muscular Dystrophy

(2010) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

(2010) A. H. Beggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Simplified Baculovirus-AAV Expression Vector System Coupled With One-step Affinity Purification Yields High-titer rAAV Stocks From Insect Cells

(2009) Richard H Smith et al.   MOLECULAR THERAPY

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

(2008) Anna Buj-Bello et al.   HUMAN MOLECULAR GENETICS

Safety and Efficacy of Regional Intravenous (RI) Versus Intramuscular (IM) Delivery of rAAV1 and rAAV8 to Nonhuman Primate Skeletal Muscle

(2008) Alice Toromanoff et al.   MOLECULAR THERAPY

Systemic Microdystrophin Gene Delivery Improves Skeletal Muscle Structure and Function in Old Dystrophic mdx Mice

(2008) Paul Gregorevic et al.   MOLECULAR THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases