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Publications

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

Reply to: "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant": "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant"

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

Cortical pencil lining on SWI MRI in NBIA and healthy aging