Data from the ROPAD study corroborate an association between ITSN1 loss-of-function variants and Parkinson’s disease

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease2024 · 16 citations
2. 2Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families2025
3. 3Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study2024 · 105 citations
4. 4Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes2022 · 484 citations
5. 5Movement Disorder Society‐sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS‐UPDRS): Scale presentation and clinimetric testing results2008 · 7,797 citations