Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Amyotrophic Lateral Sclerosis Research, Peripheral Neuropathies and Disorders, and Neurogenetic and Muscular Disorders Research.
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
Mutation in noncoding <scp>RNA RNU12</scp> causes early onset cerebellar ataxia
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum
Novel mutations target distinct subgroups of medulloblastoma