Kevin M. Flanigan

Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

The muscular dystrophies.

Correlation of knee strength to functional outcomes in Becker muscular dystrophy.

Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathy.

Identification of new dystroglycan complexes in skeletal muscle.

Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect.

The ZZ domain of dystrophin in DMD: making sense of missense mutations.

A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle.

Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates.

Duchenne and Becker muscular dystrophies.

Dystrophin quantification: Biological and translational research implications.

Reliability and validity of active-seated: An outcome in dystrophinopathy.

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.

Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration.

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB.

Duchenne muscular dystrophy: meeting the therapeutic challenge.

Modeling functional decline over time in sporadic inclusion body myositis.

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.

N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy.

Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy.

The 100-meter timed test: Normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials.

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK. to Leg Skeletal Muscles in the Rhesus Macaque.

Evaluation of biomarkers for Sanfilippo syndrome.

Lack of toxicity in non-human primates receiving clinically relevant doses of an AAV9.U7snRNA vector designed to induce DMD exon 2 skipping.