Associated Papers
Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.
Sorrentino U et al.
Annals of Neurology, 2025
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
O'Neill AG et al.
The Journal of Biological Chemistry, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
O'Neill AG et al.
Biorxiv : the Preprint Server for Biology, 2023
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M et al.
The Lancet. Neurology, 2020
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