Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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
Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
Lin J et al.
Journal of Neurology, 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
IMPDH dysregulation in disease: a mini review.
Burrell AL et al.
Biochemical Society Transactions, 2022
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M et al.
The Lancet. Neurology, 2020
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