Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, and Parkinson's Disease Mechanisms and Treatments.
Integrative genetic analysis illuminates ALS heritability and identifies risk genes
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
Integrative genetic analyses illuminates ALS heritability and identifies novel risk genes
Integrative genetic analyses illuminates ALS heritability and identifies novel risk genes
Integrative genetic analyses illuminates ALS heritability and identifies novel risk genes
TDP-43 Regulation of AChE Expression Can Mediate ALS-Like Phenotype in Zebrafish
Developmental and epilepsy spectrum of <i>KCNB1</i> encephalopathy with long‐term outcome
Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
ATXN2 trinucleotide repeat length correlates with risk of ALS
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia