Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Gene and splicing therapies for neuromuscular diseases

(2015) Aurelie Goyenvalle   Frontiers in Bioscience-Landmark

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

(2015) Gianina Ravenscroft et al.   BRAIN

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

(2014) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Sequence motifs associated with hepatotoxicity of locked nucleic acid—modified antisense oligonucleotides

(2014) Andrew D. Burdick et al.   NUCLEIC ACIDS RESEARCH

Acute Kidney Injury During Therapy With an Antisense Oligonucleotide Directed Against PCSK9

(2013) Eveline P. van Poelgeest et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Structure and nuclease resistance of 2′,4′-constrained 2′-O-methoxyethyl (cMOE) and 2′-O-ethyl (cEt) modified DNAs

(2012) Pradeep S. Pallan et al.   CHEMICAL COMMUNICATIONS

Antisense Oligonucleotide-Mediated Exon Skipping for Duchenne Muscular Dystrophy: Progress and Challenges

(2012) Virginia Arechavala-Gomeza et al.   CURRENT GENE THERAPY

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

(2012) J. J. Dowling et al.   Disease Models & Mechanisms

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice

(2012) Leonela Amoasii et al.   PLoS Genetics

Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

(2011) Belinda S. Cowling et al.   AMERICAN JOURNAL OF PATHOLOGY

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

(2011) Ning Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

(2010) Anne Toussaint et al.   ACTA NEUROPATHOLOGICA

Association of Long-term Administration of the Survivin mRNA-Targeted Antisense Oligonucleotide LY2181308 With Reversible Kidney Injury in a Patient With Metastatic Melanoma

(2010) William G. Herrington et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

(2010) Jon A Kenniston et al.   EMBO JOURNAL

Dynamin 2 Mutants Linked to Centronuclear Myopathies Form Abnormally Stable Polymers

(2010) Lei Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dynamin 2 and human diseases

(2010) Anne-Cécile Durieux et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

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

Short Antisense Oligonucleotides with Novel 2′−4′ Conformationaly Restricted Nucleoside Analogues Show Improved Potency without Increased Toxicity in Animals

(2008) Punit P. Seth et al.   JOURNAL OF MEDICINAL CHEMISTRY

Centronuclear (myotubular) myopathy

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