Overview
Trained in neuromuscular medicine, my clinical career has focused on the care of patients with genetically mediated neuromuscular disorders, rare peripheral neuropathies, and immune-mediated nerve and muscle disorders and performing high quality electrodiagnostic testing (nerve conduction studies/electromyography). As a researcher, the core aim of my work is applying high resolution ultrasound in the care of patients with neuromuscular diseases. My early work focused on peripheral nerve and is now moving toward muscle imaging. My current research includes muscle ultrasound in late onset Pompe disease and peripheral nerve imaging in acute inflammatory demyelinating radiculoneuropathy. Since 2016, I have collaborated with Dr. Kathryn Nightingale’s biomedical engineering laboratory on applying shear wave imaging to diseases of the nerve and muscle. I am interested in clinical trials for neuromuscular disorders and novel technologies for diagnosing and monitoring neuromuscular disease.
Current Appointments & Affiliations
Recent Publications
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Journal Article Mol Genet Metab · November 2025 BACKGROUND: Infantile-onset Pompe disease (IOPD) is caused by a deficiency of the enzyme acid alfa glucosidase, resulting in glycogen accumulation in muscles and other tissues. Without treatment, affected infants typically die within two years. Enzyme repl ... Full text Link to item CiteExpert consensus on the combined investigation of polyneuropathies with electrodiagnostic tests and neuromuscular ultrasound.
Journal Article Clin Neurophysiol · July 2025 Consensus was sought from 17 nominated global expert leaders to provide guidance on the combined use of neuromuscular ultrasound (NMUS) and electrodiagnostic tests (EDX) in the investigation of peripheral neuropathy (PN) in clinical practice. Consensus was ... Full text Link to item CiteImmune dysregulation in chronic inflammatory demyelinating polyneuropathy.
Journal Article J Neuroimmunol · June 15, 2024 OBJECTIVE: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disorder of the peripheral nerves with an incompletely understood underlying pathophysiology. This investigation focused on defining B and T cell frequencies, T cell funct ... Full text Link to item CiteRecent Grants
Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialInvestigator · Awarded by Genzyme Corporation · 2022 - 2030A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)
Clinical TrialPrincipal Investigator · Awarded by Avidity Biosciences · 2025 - 2028: An Open-label, Multicenter Study to Evaluate the Long-term Safety and Efficacy of Ulviprubart (ABC008) in Subjects Who Have Completed a Trial of Ulviprubart for the Treatment of Inclusion Body Myosi
Clinical TrialPrincipal Investigator · Awarded by Abcuro, Inc. · 2025 - 2028View All Grants