Area of research
Molecular Biology · Genetics
Research interest
Research interests include Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Hereditary Neurological Disorders, and Cardiomyopathy and Myosin Studies.
Current clinical applications of AAV-mediated gene therapy
Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Intermediate filament dysregulation in astrocytes in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)
Intermediate filament dysregulation and astrocytopathy in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
Water T2 could predict functional decline in patients with dysferlinopathy
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429)
The Role of <i>PIEZO2</i> in Human Mechanosensation
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
The Clinical Outcome Study for dysferlinopathy
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter
Severe congenital <i>RYR1</i> -associated myopathy