Terunori Sano

The paper identifies molecular features of WM heterotopic neurons in MOGHE using spatial transcriptomics and supports findings with immunohistochemistry and a mouse model.

The paper integrates transcriptomic and proteomic data from mTOR-related epilepsy patients to identify impaired oxidative phosphorylation as a molecular hallmark.

The paper uses spatial multi-omics to analyze FCDIIb tissue, revealing cell-type-specific effects of mTOR mutations on metabolic and immune pathways in drug-resistant epilepsy.

This study identifies HAPLN2 aggregation as a feature of brain aging in mice, linking it to microglial activation and potential brain inflammation.

The paper identifies APOE rare missense variants in the Japanese population and finds two variants associated with protective effects against Alzheimer's disease.

The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.