Area of research
Cardiology and Cardiovascular Medicine · Molecular Biology
Research interest
Research interests include Biology, Genetics, Myopathy, Mutation, ORAI1, and Frameshift mutation.
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy