Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Parkinson's Disease Mechanisms and Treatments, Neurogenetic and Muscular Disorders Research, and Neurological diseases and metabolism.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Preface: promoting research in PLS: current knowledge and future challenges
Identification of TMEM230 mutations in familial Parkinson's disease
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