The progress of AAV-mediated gene therapy in neuromuscular disorders

Utrophin up-regulation by artificial transcription factors induces muscle rescue and impacts the neuromuscular junction in mdx mice

(2018) Cinzia Pisani et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Severe Toxicity in Nonhuman Primates and Piglets Following High-Dose Intravenous Administration of an Adeno-Associated Virus Vector Expressing Human SMN

(2018) Christian Hinderer et al.   HUMAN GENE THERAPY

Severe Toxicity in Nonhuman Primates and Piglets with Systemic High-Dose Administration of Adeno-Associated Virus Serotype 9–Like Vectors: Putting Patients First

(2018) Terence R. Flotte et al.   HUMAN GENE THERAPY

The Neurotropic Properties of AAV-PHP.B Are Limited to C57BL/6J Mice

(2018) Juliette Hordeaux et al.   MOLECULAR THERAPY

S/MAR Element Facilitates Episomal Long-Term Persistence of Adeno-Associated Virus Vector Genomes in Proliferating Cells

(2017) Claudia Hagedorn et al.   HUMAN GENE THERAPY

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

(2017) David L. Mack et al.   MOLECULAR THERAPY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

(2017) Virginie Mariot et al.   Nature Communications

PABPN1 gene therapy for oculopharyngeal muscular dystrophy

(2017) A. Malerba et al.   Nature Communications

Corrigendum: Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy

(2017) Niclas E. Bengtsson et al.   Nature Communications

Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy

(2017) Caroline Le Guiner et al.   Nature Communications

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing

(2016) Philipp Odermatt et al.   MOLECULAR THERAPY

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment

(2016) Palittiya Sintusek et al.   PLoS One

In vivo tissue-tropism of adeno-associated viral vectors

(2016) Arun Srivastava   Current Opinion in Virology

Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study

(2016) Nathalie M. Goemans et al.   PLoS One

Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA

(2015) Andrea Dal Mas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A large animal model of spinal muscular atrophy and correction of phenotype

(2015) Sandra I. Duque et al.   ANNALS OF NEUROLOGY

Viral Vectors for Gene Therapy: Translational and Clinical Outlook

(2015) Melissa A. Kotterman et al.   Annual Review of Biomedical Engineering

Viral vector-mediated gene therapies

(2015) Katrin Hollinger et al.   CURRENT OPINION IN NEUROLOGY

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

(2015) Haiyan Zhou et al.   HUMAN MOLECULAR GENETICS

Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus

(2015) Yongping Yue et al.   HUMAN MOLECULAR GENETICS

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

A Phase 1/2a Follistatin Gene Therapy Trial for Becker Muscular Dystrophy

(2015) Jerry R Mendell et al.   MOLECULAR THERAPY

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

(2015) Samuel G. Jacobson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

(2015) C. Long et al.   SCIENCE

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

(2015) M. Tabebordbar et al.   SCIENCE

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

(2015) C. E. Nelson et al.   SCIENCE

The potential of adeno-associated viral vectors for gene delivery to muscle tissue

(2014) Dan Wang et al.   Expert Opinion on Drug Delivery

Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9–Survival Motor Neuron 1 for Spinal Muscular Atrophy

(2014) Marco A. Passini et al.   HUMAN GENE THERAPY

Full-Length Dystrophin Reconstitution with Adeno-Associated Viral Vectors

(2014) William Lostal et al.   HUMAN GENE THERAPY

Observational study of spinal muscular atrophy type I and implications for clinical trials

(2014) R. S. Finkel et al.   NEUROLOGY

Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B

(2014) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2014) M. K. Childers et al.   Science Translational Medicine

Triple Trans-Splicing Adeno-Associated Virus Vectors Capable of Transferring the Coding Sequence for Full-Length Dystrophin Protein into Dystrophic Mice

(2013) Taeyoung Koo et al.   HUMAN GENE THERAPY

Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice

(2013) Sofia Benkhelifa-Ziyyat et al.   MOLECULAR THERAPY

Vascular Delivery of rAAVrh74.MCK.GALGT2 to the Gastrocnemius Muscle of the Rhesus Macaque Stimulates the Expression of Dystrophin and Laminin α2 Surrogates

(2013) Louis G. Chicoine et al.   MOLECULAR THERAPY

Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping

(2012) Aurélie Goyenvalle et al.   HUMAN MOLECULAR GENETICS

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

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

(2012) Juliana Gurgel-Giannetti et al.   NEUROMUSCULAR DISORDERS

The Muscular Dystrophies

(2012) Kevin Flanigan   SEMINARS IN NEUROLOGY

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Long-term functional adeno-associated virus-microdystrophin expression in the dystrophic CXMDj dog

(2011) Taeyoung Koo et al.   JOURNAL OF GENE MEDICINE

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

(2011) Sebahattin Cirak et al.   MOLECULAR THERAPY

Long-term Restoration of Cardiac Dystrophin Expression in Golden Retriever Muscular Dystrophy Following rAAV6-mediated Exon Skipping

(2011) Lawrence T Bish 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

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

Combination of Myostatin Pathway Interference and Dystrophin Rescue Enhances Tetanic and Specific Force in Dystrophic mdx Mice

(2010) Julie Dumonceaux et al.   MOLECULAR THERAPY

Widespread Muscle Expression of an AAV9 Human Mini-dystrophin Vector After Intravenous Injection in Neonatal Dystrophin-deficient Dogs

(2010) Joe N Kornegay et al.   MOLECULAR THERAPY

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Dystrophin Immunity in Duchenne's Muscular Dystrophy

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

A viral assembly factor promotes AAV2 capsid formation in the nucleolus

(2010) F. Sonntag et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

(2010) C. F. Valori et al.   Science Translational Medicine

Persistent Expression of FLAG-tagged Micro dystrophin in Nonhuman Primates Following Intramuscular and Vascular Delivery

(2009) Louise R Rodino-Klapac et al.   MOLECULAR THERAPY

Follistatin Gene Delivery Enhances Muscle Growth and Strength in Nonhuman Primates

(2009) J. Kota et al.   Science Translational Medicine

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

A Single Intravenous Injection of Adeno-associated Virus Serotype-9 Leads to Whole Body Skeletal Muscle Transduction in Dogs

(2008) Yongping Yue et al.   MOLECULAR THERAPY

Microutrophin Delivery Through rAAV6 Increases Lifespan and Improves Muscle Function in Dystrophic Dystrophin/Utrophin-deficient Mice

(2008) Guy L Odom et al.   MOLECULAR THERAPY

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors

(2008) A. M. Haidet et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA