Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Cardiomyopathy and Myosin Studies, Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, and Neurogenetic and Muscular Disorders Research.
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
New family with <i>HSPB</i> 8-associated autosomal dominant rimmed vacuolar myopathy
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy