Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing, and RNA modifications and cancer.
Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly
ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA‐binding protein IMP1 facilitates its trafficking into motor neuron axons
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth
Spinal muscular atrophy: The role of SMN in axonal mRNA regulation
Coaggregation of RNA-Binding Proteins in a Model of TDP-43 Proteinopathy with Selective RGG Motif Methylation and a Role for RRM1 Ubiquitination