Area of research
Molecular Biology · Aerospace Engineering
Research interest
Research interests include Medicine, Duchenne muscular dystrophy, Spinal muscular atrophy, Internal medicine, Genetics, and Clinical endpoint.
AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial
Complement activation in a phase Ib study of fordadistrogene movaparvovec for Duchenne muscular dystrophy
Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping
The care of patients with Duchenne, Becker, and other muscular dystrophies in the <scp>COVID</scp>‐19 pandemic
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Spinal muscular atrophy care in the COVID‐19 pandemic era
Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents
AVXS-101 Gene Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update
Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration
IRF2BPL Is Associated with Neurological Phenotypes
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases
Assessment of obstetric brachial plexus injury with preoperative ultrasound