Area of research
Molecular Biology · Psychiatry and Mental health
Research interest
Research interests include Muscle Physiology and Disorders, Epilepsy research and treatment, Genetic Neurodegenerative Diseases, and Nosocomial Infections in ICU.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Could the 2017 ILAE and the four-dimensional epilepsy classifications be merged to a new “Integrated Epilepsy Classification”?
Classification of paroxysmal events and the four‐dimensional epilepsy classification system
Critique of the 2017 epileptic seizure and epilepsy classifications
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>