Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research focused on Neurology and Myopathy, with related work in Disease, Pathogenesis, Glutamatergic. Notable publications include 'Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders', 'Lrp4 in astrocytes modulates glutamatergic transmission', and 'Clinical features of NOTCH2NLC -related neuronal intranuclear inclusion disease'.
Clinical features of<i>NOTCH2NLC</i>-related neuronal intranuclear inclusion disease
Expression of expanded GGC repeats within <i>NOTCH2NLC</i> causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease
NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report
Correction: NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report
A case of adult-onset neuronal intranuclear inclusion disease without abnormal high-intensity signal in the corticomedullary junction in diffusion-weighted imaging
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Lrp4 in astrocytes modulates glutamatergic transmission