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.
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
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