Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, and Parkinson's Disease Mechanisms and Treatments.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function
Autologous Hematopoietic Stem Cell Transplantation for Stiff-Person Spectrum Disorder
Preface: promoting research in PLS: current knowledge and future challenges
Reply to ‘TMEM230 variants in Parkinson’s disease’ and ‘Doubts about TMEM230 as a gene for parkinsonism’
Identification of TMEM230 mutations in familial Parkinson's disease
Defining SOD1 ALS natural history to guide therapeutic clinical trial design
Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis
Compound heterozygote mutations in <i>SPG7</i> in a family with adult-onset primary lateral sclerosis
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation
Genetic and epigenetic studies of amyotrophic lateral sclerosis