Area of research
Molecular Biology · Neurology
Research interest
Research interests include Muscle Physiology and Disorders, Prion Diseases and Protein Misfolding, RNA Research and Splicing, and Amyotrophic Lateral Sclerosis Research.
iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling
Author response: iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy
Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy
PLAAC: a web and command-line application to identify proteins with prion-like amino acid composition
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Stress granules as crucibles of ALS pathogenesis
Exome sequencing to identify de novo mutations in sporadic ALS trios
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy
Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis